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Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1)

 SCN1A_HUMAN             Reviewed;        2009 AA.
P35498; E9PG49; Q16172; Q585T7; Q8IUJ6; Q96LA3; Q9C008;
01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
08-DEC-2000, sequence version 2.
30-AUG-2017, entry version 192.
RecName: Full=Sodium channel protein type 1 subunit alpha;
AltName: Full=Sodium channel protein brain I subunit alpha;
AltName: Full=Sodium channel protein type I subunit alpha;
AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.1;
Name=SCN1A; Synonyms=NAC1, SCN1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS GEFS+2 MET-875
AND HIS-1648.
PubMed=10742094; DOI=10.1038/74159;
Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G.,
An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D.,
Buresi C., Malafosse A.;
"Mutations of SCN1A, encoding a neuronal sodium channel, in two
families with GEFS+2.";
Nat. Genet. 24:343-345(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Jeong S.-Y., Goto J., Kanazawa I.;
"Cloning of cDNA for human voltage-gated sodium channel alpha subunit,
SCN1A.";
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Brain;
Sugawara T., Mazaki E.M., Yamakawa K.;
"Homo sapiens neuronal voltage-gated sodium channel type I (Nav1.1)
mRNA.";
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), VARIANT THR-1067,
AND ALTERNATIVE SPLICING.
TISSUE=Brain;
Ouchida M., Ohmori I.;
"Isoforms of human sodium channel SCN1A gene.";
Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1335-1428.
PubMed=8062593;
Malo M.S., Blanchard B.J., Andresen J.M., Srivastava K., Chen X.N.,
Li X., Jabs E.W., Korenberg J.R., Ingram V.M.;
"Localization of a putative human brain sodium channel gene (SCN1A) to
chromosome band 2q24.";
Cytogenet. Cell Genet. 67:178-186(1994).
[7]
NUCLEOTIDE SEQUENCE [MRNA] OF 1518-1940.
TISSUE=Brain;
PubMed=1317301; DOI=10.1016/0014-5793(92)80476-W;
Lu C.-M., Han J., Rado T.A., Brown G.B.;
"Differential expression of two sodium channel subtypes in human
brain.";
FEBS Lett. 303:53-58(1992).
[8]
INTERACTION WITH FGF13.
PubMed=21566136; DOI=10.1074/jbc.M111.245803;
Wang C., Wang C., Hoch E.G., Pitt G.S.;
"Identification of novel interaction sites that determine specificity
between fibroblast growth factor homologous factors and voltage-gated
sodium channels.";
J. Biol. Chem. 286:24253-24263(2011).
[9]
SUBUNIT, AND INTERACTION WITH THE CONOTOXIN GVIIJ.
PubMed=24497506; DOI=10.1073/pnas.1324189111;
Gajewiak J., Azam L., Imperial J., Walewska A., Green B.R.,
Bandyopadhyay P.K., Raghuraman S., Ueberheide B., Bern M., Zhou H.M.,
Minassian N.A., Hagan R.H., Flinspach M., Liu Y., Bulaj G.,
Wickenden A.D., Olivera B.M., Yoshikami D., Zhang M.M.;
"A disulfide tether stabilizes the block of sodium channels by the
conotoxin muO[section sign]-GVIIJ.";
Proc. Natl. Acad. Sci. U.S.A. 111:2758-2763(2014).
[10]
SUBUNIT, INTERACTION WITH THE SPIDER BETA/DELTA-THERAPHOTOXIN-PRE1A,
AND SITE SER-1574.
PubMed=28428547; DOI=10.1038/s41598-017-01129-0;
Wingerd J.S., Mozar C.A., Ussing C.A., Murali S.S., Chin Y.K.,
Cristofori-Armstrong B., Durek T., Gilchrist J., Vaughan C.W.,
Bosmans F., Adams D.J., Lewis R.J., Alewood P.F., Mobli M.,
Christie M.J., Rash L.D.;
"The tarantula toxin beta/delta-TRTX-Pre1a highlights the importance
of the S1-S2 voltage-sensor region for sodium channel subtype
selectivity.";
Sci. Rep. 7:974-988(2017).
[11]
VARIANTS GEFS+2 VAL-188; LEU-1353 AND MET-1656, AND VARIANTS THR-1067
AND GLY-1928.
PubMed=11254444; DOI=10.1086/319516;
Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L.,
Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N.,
Ben-Zeev B., Goikhman I., Singh R., Kremmidiotis G., Gardner A.,
Sutherland G.R., George A.L. Jr., Mulley J.C., Berkovic S.F.;
"Neuronal sodium-channel alpha1-subunit mutations in generalized
epilepsy with febrile seizures plus.";
Am. J. Hum. Genet. 68:859-865(2001).
[12]
VARIANT GEFS+2 ARG-1204.
PubMed=11254445; DOI=10.1086/319524;
Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H.;
"A novel SCN1A mutation associated with generalized epilepsy with
febrile seizures plus -- and prevalence of variants in patients with
epilepsy.";
Am. J. Hum. Genet. 68:866-873(2001).
[13]
VARIANT EIEE6 PHE-986.
PubMed=11359211; DOI=10.1086/320609;
Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C.,
De Jonghe P.;
"De novo mutations in the sodium-channel gene SCN1A cause severe
myoclonic epilepsy of infancy.";
Am. J. Hum. Genet. 68:1327-1332(2001).
[14]
VARIANTS GEFS+2 ALA-1428 AND VAL-1685.
PubMed=11524484; DOI=10.1212/WNL.57.4.703;
Sugawara T., Mazaki-Miyazaki E., Ito M., Nagafuji H., Fukuma G.,
Mitsudome A., Wada K., Kaneko S., Hirose S., Yamakawa K.;
"Na(v)1.1 mutations cause febrile seizures associated with afebrile
partial seizures.";
Neurology 57:703-705(2001).
[15]
VARIANT GEFS+2 THR-1270.
PubMed=11756608; DOI=10.1212/WNL.57.12.2265;
Abou-Khalil B., Ge Q., Desai R., Ryther R., Bazyk A., Bailey R.,
Haines J.L., Sutcliffe J.S., George A.L. Jr.;
"Partial and generalized epilepsy with febrile seizures plus and a
novel SCN1A mutation.";
Neurology 57:2265-2272(2001).
[16]
VARIANTS EIEE6 CYS-902; CYS-931; PRO-1265; PHE-1289 DEL; MET-1390;
ARG-1434; ARG-1450; CYS-1648 AND ARG-1674 AND ILE-1909, AND VARIANT
THR-1067.
PubMed=12083760; DOI=10.1016/S0006-291X(02)00617-4;
Ohmori I., Ouchida M., Ohtsuka Y., Oka E., Shimizu K.;
"Significant correlation of the SCN1A mutations and severe myoclonic
epilepsy in infancy.";
Biochem. Biophys. Res. Commun. 295:17-23(2002).
[17]
VARIANTS EIEE6 GLY-103; ILE-112; TRP-265; ASP-343; VAL-960; ILE-985;
ARG-1231; LEU-1263; ASP-1685; 1807-MET--GLU-1810 DEL; GLY-1812 AND
SER-1831, VARIANTS ICEGTC SER-808; ARG-979; ALA-983; ILE-1011;
PHE-1611; SER-1632; ILE-1709 AND LEU-1808, AND VARIANT THR-1067.
PubMed=12566275; DOI=10.1093/brain/awg053;
Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y.,
Fukushima K., Watanabe M., Hara K., Morikawa T., Yagi K., Yamakawa K.,
Inoue Y.;
"Mutations of sodium channel alpha subunit type 1 (SCN1A) in
intractable childhood epilepsies with frequent generalized tonic-
clonic seizures.";
Brain 126:531-546(2003).
[18]
VARIANTS GEFS+2 CYS-790 AND THR-1852.
PubMed=12919402; DOI=10.1046/j.1528-1157.2003.22503.x;
Annesi G., Gambardella A., Carrideo S., Incorpora G., Labate A.,
Pasqua A.A., Civitelli D., Polizzi A., Annesi F., Spadafora P.,
Tarantino P., Ciro Candiano I.C., Romeo N., De Marco E.V., Ventura P.,
LePiane E., Zappia M., Aguglia U., Pavone L., Quattrone A.;
"Two novel SCN1A missense mutations in generalized epilepsy with
febrile seizures plus.";
Epilepsia 44:1257-1258(2003).
[19]
VARIANT GEFS+2 VAL-188, AND CHARACTERIZATION OF VARIANT GEFS+2
VAL-188.
PubMed=12576172; DOI=10.1016/S0920-1211(02)00259-0;
Cossette P., Loukas A., Lafreniere R.G., Rochefort D.,
Harvey-Girard E., Ragsdale D.S., Dunn R.J., Rouleau G.A.;
"Functional characterization of the D188V mutation in neuronal
voltage-gated sodium channel causing generalized epilepsy with febrile
seizures plus (GEFS).";
Epilepsy Res. 53:107-117(2003).
[20]
VARIANTS EIEE6 HIS-393; GLN-939; ARG-959; ARG-1434; SER-1661 AND
GLU-1749.
PubMed=12754708; DOI=10.1002/humu.10217;
Claes L., Ceulemans B., Audenaert D., Smets K., Loefgren A.,
Del-Favero J., Ala-Mello S., Basel-Vanagaite L., Plecko B., Raskin S.,
Thiry P., Wolf N.I., Van Broeckhoven C., De Jonghe P.;
"De novo SCN1A mutations are a major cause of severe myoclonic
epilepsy of infancy.";
Hum. Mutat. 21:615-621(2003).
[21]
VARIANT GEFS+2 CYS-1657, CHARACTERIZATION OF VARIANTS GEFS+2 LEU-1353;
MET-1656; CYS-1657 AND VAL-1685, AND CHARACTERIZATION OF VARIANT EIEE6
PHE-986.
PubMed=14672992;
Lossin C., Rhodes T.H., Desai R.R., Vanoye C.G., Wang D., Carniciu S.,
Devinsky O., George A.L. Jr.;
"Epilepsy-associated dysfunction in the voltage-gated neuronal sodium
channel SCN1A.";
J. Neurosci. 23:11289-11295(2003).
[22]
VARIANTS GLN-542; THR-1034; LEU-1038; THR-1067 AND THR-1955.
PubMed=12610651; DOI=10.1038/sj.mp.4001241;
Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T.,
Mori M., Reichert J., Buxbaum J.D., Meisler M.H.;
"Sodium channels SCN1A, SCN2A and SCN3A in familial autism.";
Mol. Psychiatry 8:186-194(2003).
[23]
VARIANTS EIEE6 ASP-78; GLU-177; SER-227; ARG-280; ILE-297; ASN-426;
ARG-1233; ILE-1461; SER-1463; ALA-1668; THR-1780 AND
1812-TRP--LYS-1815 DELINS CYS.
PubMed=12821740; DOI=10.1212/01.WNL.0000069463.41870.2F;
Nabbout R., Gennaro E., Dalla Bernardina B., Dulac O., Madia F.,
Bertini E., Capovilla G., Chiron C., Cristofori G., Elia M.,
Fontana E., Gaggero R., Granata T., Guerrini R., Loi M., La Selva L.,
Lispi M.L., Matricardi A., Romeo A., Tzolas V., Valseriati D.,
Veggiotti P., Vigevano F., Vallee L., Dagna Bricarelli F., Bianchi A.,
Zara F.;
"Spectrum of SCN1A mutations in severe myoclonic epilepsy of
infancy.";
Neurology 60:1961-1967(2003).
[24]
VARIANTS EIEE6 PRO-1326 AND ASP-1881, AND VARIANT INFANTILE SPASMS
GLY-1957.
PubMed=14504318; DOI=10.1212/01.WNL.0000086379.71183.78;
Wallace R.H., Hodgson B.L., Grinton B.E., Gardiner R.M., Robinson R.,
Rodriguez-Casero V., Sadleir L., Morgan J., Harkin L.A., Dibbens L.M.,
Yamamoto T., Andermann E., Mulley J.C., Berkovic S.F., Scheffer I.E.;
"Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy
of infancy and infantile spasms.";
Neurology 61:765-769(2003).
[25]
CHARACTERIZATION OF VARIANT GEFS+2 ARG-1204.
PubMed=12535936; DOI=10.1016/S0306-4522(02)00698-X;
Spampanato J., Escayg A., Meisler M.H., Goldin A.L.;
"Generalized epilepsy with febrile seizures plus type 2 mutation
W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.";
Neuroscience 116:37-48(2003).
[26]
VARIANTS EIEE6 GLN-101; ARG-190; ILE-934; ALA-944; CYS-946; HIS-946;
PRO-1355; MET-1559 DEL; SER-1692; CYS-1694; PHE-1766 DEL AND CYS-1781.
PubMed=14738421; DOI=10.1111/j.0013-9580.2004.15103.x;
Fukuma G., Oguni H., Shirasaka Y., Watanabe K., Miyajima T.,
Yasumoto S., Ohfu M., Inoue T., Watanachai A., Kira R., Matsuo M.,
Muranaka H., Sofue F., Zhang B., Kaneko S., Mitsudome A., Hirose S.;
"Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene
SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in
borderline SMEI (SMEB).";
Epilepsia 45:140-148(2004).
[27]
VARIANT GEFS+2 TYR-1866, CHARACTERIZATION OF VARIANT GEFS+2 TYR-1866,
AND INTERACTION WITH SCN1B.
PubMed=15525788; DOI=10.1523/JNEUROSCI.2034-04.2004;
Spampanato J., Kearney J.A., de Haan G., McEwen D.P., Escayg A.,
Aradi I., MacDonald B.T., Levin S.I., Soltesz I., Benna P.,
Montalenti E., Isom L.L., Goldin A.L., Meisler M.H.;
"A novel epilepsy mutation in the sodium channel SCN1A identifies a
cytoplasmic domain for beta subunit interaction.";
J. Neurosci. 24:10022-10034(2004).
[28]
VARIANT EIEE6 ASN-252.
PubMed=15087100; DOI=10.1016/j.pediatrneurol.2003.10.012;
Ceulemans B.P.G.M., Claes L.R.F., Lagae L.G.;
"Clinical correlations of mutations in the SCN1A gene: from febrile
seizures to severe myoclonic epilepsy in infancy.";
Pediatr. Neurol. 30:236-243(2004).
[29]
VARIANT EIEE6 ASN-1713, AND VARIANT THR-1067.
PubMed=16122630; DOI=10.1016/j.braindev.2004.11.005;
Kimura K., Sugawara T., Mazaki-Miyazaki E., Hoshino K., Nomura Y.,
Tateno A., Hachimori K., Yamakawa K., Segawa M.;
"A missense mutation in SCN1A in brothers with severe myoclonic
epilepsy in infancy (SMEI) inherited from a father with febrile
seizures.";
Brain Dev. 27:424-430(2005).
[30]
VARIANT GEFS+2 LEU-1857.
PubMed=15715999; DOI=10.1016/j.eplepsyres.2004.11.005;
Nagao Y., Mazaki-Miyazaki E., Okamura N., Takagi M., Igarashi T.,
Yamakawa K.;
"A family of generalized epilepsy with febrile seizures plus type 2-a
new missense mutation of SCN1A found in the pedigree of several
patients with complex febrile seizures.";
Epilepsy Res. 63:151-156(2005).
[31]
VARIANTS ICEGTC SER-808 AND ILE-1011, AND CHARACTERIZATION OF VARIANTS
ICEGTC SER-808; ARG-979; ALA-983; ILE-1011; PHE-1611; SER-1632;
ILE-1709 AND LEU-1808.
PubMed=16210358; DOI=10.1113/jphysiol.2005.094326;
Rhodes T.H., Vanoye C.G., Ohmori I., Ogiwara I., Yamakawa K.,
George A.L. Jr.;
"Sodium channel dysfunction in intractable childhood epilepsy with
generalized tonic-clonic seizures.";
J. Physiol. (Lond.) 569:433-445(2005).
[32]
VARIANT FHM3 LYS-1489.
PubMed=16054936; DOI=10.1016/S0140-6736(05)66786-4;
Dichgans M., Freilinger T., Eckstein G., Babini E.,
Lorenz-Depiereux B., Biskup S., Ferrari M.D., Herzog J.,
van den Maagdenberg A.M.J.M., Pusch M., Strom T.M.;
"Mutation in the neuronal voltage-gated sodium channel SCN1A in
familial hemiplegic migraine.";
Lancet 366:371-377(2005).
[33]
VARIANT EIEE6 SER-946.
PubMed=15944908; DOI=10.1055/s-2005-865607;
Ebach K., Joos H., Doose H., Stephani U., Kurlemann G., Fiedler B.,
Hahn A., Hauser E., Hundt K., Holthausen H., Mueller U.,
Neubauer B.A.;
"SCN1A mutation analysis in myoclonic astatic epilepsy and severe
idiopathic generalized epilepsy of infancy with generalized tonic-
clonic seizures.";
Neuropediatrics 36:210-213(2005).
[34]
VARIANT FEB3A THR-145, AND CHARACTERIZATION OF VARIANT FEB3A THR-145.
PubMed=16326807; DOI=10.1073/pnas.0506818102;
Mantegazza M., Gambardella A., Rusconi R., Schiavon E., Annesi F.,
Cassulini R.R., Labate A., Carrideo S., Chifari R., Canevini M.P.,
Canger R., Franceschetti S., Annesi G., Wanke E., Quattrone A.;
"Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function
mutation associated with familial simple febrile seizures.";
Proc. Natl. Acad. Sci. U.S.A. 102:18177-18182(2005).
[35]
VARIANT GEFS+2 GLY-1742.
PubMed=15694566; DOI=10.1016/j.seizure.2004.12.007;
Pineda-Trujillo N., Carrizosa J., Cornejo W., Arias W., Franco C.,
Cabrera D., Bedoya G., Ruiz-Linares A.;
"A novel SCN1A mutation associated with severe GEFS+ in a large South
American pedigree.";
Seizure 14:123-128(2005).
[36]
VARIANT EIEE6 PRO-1393.
PubMed=17129991; DOI=10.1080/08035250600778628;
Stefanaki E., Aggelakou V., Orfanou M., Kokori E., Boutoufianakis S.;
"Epilepsy with a de novo missense mutation in the sodium channel a1
subunit: a case report.";
Acta Paediatr. 95:1703-1706(2006).
[37]
VARIANTS EIEE6 ASP-78; PRO-162; ASN-194; LYS-217; SER-227; ARG-280;
LEU-383; CYS-393; SER-393; ASN-426; ARG-812; LYS-846; PRO-942;
ARG-1233; GLN-1245; CYS-1422; ARG-1426; LEU-1451; SER-1463; SER-1475;
ALA-1668; ARG-1714; GLU-1762; PHE-1773 AND THR-1780.
PubMed=17054684; DOI=10.1111/j.1528-1167.2006.00641.x;
Mancardi M.M., Striano P., Gennaro E., Madia F., Paravidino R.,
Scapolan S., Dalla Bernardina B., Bertini E., Bianchi A.,
Capovilla G., Darra F., Elia M., Freri E., Gobbi G., Granata T.,
Guerrini R., Pantaleoni C., Parmeggiani A., Romeo A., Santucci M.,
Vecchi M., Veggiotti P., Vigevano F., Pistorio A., Gaggero R.,
Zara F.;
"Familial occurrence of febrile seizures and epilepsy in severe
myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.";
Epilepsia 47:1629-1635(2006).
[38]
CHARACTERIZATION OF VARIANTS EIEE6 GLU-177; SER-227; HIS-393; ASN-426;
GLN-939; ARG-959; PHE-1289 DEL AND ILE-1909.
PubMed=17054685; DOI=10.1111/j.1528-1167.2006.00643.x;
Ohmori I., Kahlig K.M., Rhodes T.H., Wang D.W., George A.L. Jr.;
"Nonfunctional SCN1A is common in severe myoclonic epilepsy of
infancy.";
Epilepsia 47:1636-1642(2006).
[39]
VARIANT GEFS+2 CYS-859, AND CHARACTERIZATION OF VARIANT GEFS+2
CYS-859.
PubMed=16525050; DOI=10.1523/JNEUROSCI.2977-05.2006;
Barela A.J., Waddy S.P., Lickfett J.G., Hunter J., Anido A.,
Helmers S.L., Goldin A.L., Escayg A.;
"An epilepsy mutation in the sodium channel SCN1A that decreases
channel excitability.";
J. Neurosci. 26:2714-2723(2006).
[40]
VARIANTS EIEE6 LEU-403; ASN-413; HIS-946; ASP-1238; GLY-1396 AND
GLN-1645.
PubMed=16713920; DOI=10.1016/S1474-4422(06)70446-X;
Berkovic S.F., Harkin L., McMahon J.M., Pelekanos J.T., Zuberi S.M.,
Wirrell E.C., Gill D.S., Iona X., Mulley J.C., Scheffer I.E.;
"De-novo mutations of the sodium channel gene SCN1A in alleged vaccine
encephalopathy: a retrospective study.";
Lancet Neurol. 5:488-492(2006).
[41]
VARIANT EIEE6 THR-1231.
PubMed=16458823; DOI=10.1016/j.pediatrneurol.2005.07.009;
Kearney J.A., Wiste A.K., Stephani U., Trudeau M.M., Siegel A.,
Ramachandrannair R., Elterman R.D., Muhle H., Reinsdorf J.,
Shields W.D., Meisler M.H., Escayg A.;
"Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of
infancy.";
Pediatr. Neurol. 34:116-120(2006).
[42]
VARIANTS CYS-393; PRO-395; GLU-422; GLY-626; VAL-1480; SER-1543;
GLN-1636 AND HIS-1657, VARIANTS EIEE6 HIS-79; CYS-84; TRP-101;
ARG-199; MET-226; THR-239; LEU-403; ASN-413; GLY-674; PRO-783;
GLU-944; LEU-945; GLU-950; ASP-1238; MET-1390; GLY-1396; PRO-1441;
VAL-1545; CYS-1596; GLN-1645; VAL-1707; ARG-1721 AND THR-1922, AND
VARIANT GEFS+2 VAL-973.
PubMed=17347258; DOI=10.1093/brain/awm002;
The infantile epileptic encephalopathy referral consortium;
Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T.,
Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K.,
Connolly M., Stanley T., Harbord M., Andermann F., Wang J.,
Batish S.D., Jones J.G., Seltzer W.K., Gardner A., Sutherland G.,
Berkovic S.F., Mulley J.C., Scheffer I.E.;
"The spectrum of SCN1A-related infantile epileptic encephalopathies.";
Brain 130:843-852(2007).
[43]
VARIANTS EIEE6 GLN-101; ILE-322; GLY-356; THR-358; CYS-393; HIS-393;
LEU-957; TYR-1414; TRP-1470; ARG-1588; TYR-1608; MET-1630; ARG-1658;
ARG-1716; VAL-1783 AND LYS-1787, AND VARIANTS GEFS+2 PRO-74; ARG-1204
AND SER-1687.
PubMed=17561957; DOI=10.1111/j.1528-1167.2007.01122.x;
Marini C., Mei D., Temudo T., Ferrari A.R., Buti D., Dravet C.,
Dias A.I., Moreira A., Calado E., Seri S., Neville B., Narbona J.,
Reid E., Michelucci R., Sicca F., Cross H.J., Guerrini R.;
"Idiopathic epilepsies with seizures precipitated by fever and SCN1A
abnormalities.";
Epilepsia 48:1678-1685(2007).
[44]
VARIANT GEFS+2 ILE-1366, AND VARIANT ICEGTC ILE-1366.
PubMed=17507202; DOI=10.1016/j.eplepsyres.2007.03.018;
Osaka H., Ogiwara I., Mazaki E., Okamura N., Yamashita S., Iai M.,
Yamada M., Kurosawa K., Iwamoto H., Yasui-Furukori N., Kaneko S.,
Fujiwara T., Inoue Y., Yamakawa K.;
"Patients with a sodium channel alpha 1 gene mutation show wide
phenotypic variation.";
Epilepsy Res. 75:46-51(2007).
[45]
VARIANT FHM3 GLN-1649.
PubMed=17397047; DOI=10.1002/humu.9486;
Vanmolkot K.R., Babini E., de Vries B., Stam A.H., Freilinger T.,
Terwindt G.M., Norris L., Haan J., Frants R.R., Ramadan N.M.,
Ferrari M.D., Pusch M., van den Maagdenberg A.M., Dichgans M.;
"The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated
with familial hemiplegic migraine: genetic and functional studies.
Mutation in brief #957. Online.";
Hum. Mutat. 28:522-522(2007).
[46]
CHARACTERIZATION OF VARIANT GEFS+2 THR-1852, SUBCELLULAR LOCATION, AND
INTERACTION WITH SCN1B.
PubMed=17928445; DOI=10.1523/JNEUROSCI.3515-07.2007;
Rusconi R., Scalmani P., Cassulini R.R., Giunti G., Gambardella A.,
Franceschetti S., Annesi G., Wanke E., Mantegazza M.;
"Modulatory proteins can rescue a trafficking defective epileptogenic
Nav1.1 Na+ channel mutant.";
J. Neurosci. 27:11037-11046(2007).
[47]
VARIANT PHE-790, AND POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS SYNDROME.
PubMed=17679682; DOI=10.1212/01.wnl.0000266666.10404.53;
Grosso S., Orrico A., Galli L., Di Bartolo R., Sorrentino V.,
Balestri P.;
"SCN1A mutation associated with atypical Panayiotopoulos syndrome.";
Neurology 69:609-611(2007).
[48]
VARIANT FOCAL EPILEPSY PHE-1771.
PubMed=18330841; DOI=10.1055/s-2008-1062703;
Okumura A., Kurahashi H., Hirose S., Okawa N., Watanabe K.;
"Focal epilepsy resulting from a de novo SCN1A mutation.";
Neuropediatrics 38:253-256(2007).
[49]
VARIANT FHM3 SER-1174.
PubMed=18021921; DOI=10.1016/j.pediatrneurol.2007.06.016;
Gargus J.J., Tournay A.;
"Novel mutation confirms seizure locus SCN1A is also familial
hemiplegic migraine locus FHM3.";
Pediatr. Neurol. 37:407-410(2007).
[50]
VARIANT GEFS+2 MET-978.
PubMed=17927801; DOI=10.1111/j.1600-0404.2007.00941.x;
Selmer K.K., Egeland T., Solaas M.H., Nakken K.O., Kjeldsen M.J.,
Friis M.L., Brandal K., Corey L.A., Undlien D.E.;
"Genetic screening of Scandinavian families with febrile seizures and
epilepsy or GEFS+.";
Acta Neurol. Scand. 117:289-292(2008).
[51]
VARIANTS EIEE6 SER-118; GLU-366; PRO-1207; MET-1335; SER-1358 AND
CYS-1462, VARIANT GEFS+2 GLN-377, AND VARIANT GLY-1928.
PubMed=18413471; DOI=10.1001/archneur.65.4.489;
Zucca C., Redaelli F., Epifanio R., Zanotta N., Romeo A., Lodi M.,
Veggiotti P., Airoldi G., Panzeri C., Romaniello R., De Polo G.,
Bonanni P., Cardinali S., Baschirotto C., Martorell L., Borgatti R.,
Bresolin N., Bassi M.T.;
"Cryptogenic epileptic syndromes related to SCN1A: twelve novel
mutations identified.";
Arch. Neurol. 65:489-494(2008).
[52]
VARIANT GEFS+2 THR-1867.
PubMed=18251839; DOI=10.1111/j.1528-1167.2007.01439_2.x;
Hindocha N., Nashef L., Elmslie F., Birch R., Zuberi S.,
Al-Chalabi A., Crotti L., Schwartz P.J., Makoff A.;
"Two cases of sudden unexpected death in epilepsy in a GEFS+ family
with an SCN1A mutation.";
Epilepsia 49:360-365(2008).
[53]
VARIANT CYS-1575.
PubMed=18031552; DOI=10.1111/j.1528-1167.2007.01411.x;
Ohmori I., Ouchida M., Kobayashi K., Jitsumori Y., Inoue T.,
Shimizu K., Matsui H., Ohtsuka Y., Maegaki Y.;
"Rasmussen encephalitis associated with SCN 1 A mutation.";
Epilepsia 49:521-526(2008).
[54]
VARIANT GEFS+2 HIS-935.
PubMed=18566737; DOI=10.1007/s10038-008-0306-y;
Sun H., Zhang Y., Liang J., Liu X., Ma X., Wu H., Xu K., Qin J.,
Qi Y., Wu X.;
"SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families
with generalized epilepsy with febrile seizures plus.";
J. Hum. Genet. 53:769-774(2008).
[55]
VARIANT EIEE6 CYS-280.
PubMed=18639757; DOI=10.1016/j.pediatrneurol.2008.04.003;
Miyama S., Goto T., Inoue Y., Yamakawa K.;
"Monozygotic twins with severe myoclonic epilepsy in infancy
discordant for clinical features.";
Pediatr. Neurol. 39:120-122(2008).
[56]
VARIANT THR-1067.
PubMed=19694741; DOI=10.1111/j.1365-2125.2009.03437.x;
Lakhan R., Kumari R., Misra U.K., Kalita J., Pradhan S., Mittal B.;
"Differential role of sodium channels SCN1A and SCN2A gene
polymorphisms with epilepsy and multiple drug resistance in the north
Indian population.";
Br. J. Clin. Pharmacol. 68:214-220(2009).
[57]
VARIANT EIEE6 LYS-1503.
PubMed=19783390; DOI=10.1016/j.braindev.2009.08.009;
Shi X., Yasumoto S., Nakagawa E., Fukasawa T., Uchiya S., Hirose S.;
"Missense mutation of the sodium channel gene SCN2A causes Dravet
syndrome.";
Brain Dev. 31:758-762(2009).
[58]
VARIANTS GLN-542 AND PHE-790, VARIANT FEB3A ASP-1308, VARIANT EIEE6
CYS-1648, VARIANTS GEFS+2 THR-899; ILE-976; ASN-1249 AND MET-1250, AND
POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS SYNDROME.
PubMed=19522081; DOI=10.1111/j.1399-0004.2009.01155.x;
Orrico A., Galli L., Grosso S., Buoni S., Pianigiani R., Balestri P.,
Sorrentino V.;
"Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150
Italian patients with idiopathic childhood epilepsies.";
Clin. Genet. 75:579-581(2009).
[59]
VARIANT GEFS+2 LEU-218, AND POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS
SYNDROME.
PubMed=19339291; DOI=10.1177/0883073808324537;
Livingston J.H., Cross J.H., Mclellan A., Birch R., Zuberi S.M.;
"A novel inherited mutation in the voltage sensor region of SCN1A is
associated with Panayiotopoulos syndrome in siblings and generalized
epilepsy with febrile seizures plus.";
J. Child Neurol. 24:503-508(2009).
[60]
VARIANTS GLN-542; HIS-604; THR-924; ILE-1079; THR-1109; ASP-1308;
CYS-1575 AND GLY-1928, AND VARIANTS EIEE6 VAL-58; PHE-61; HIS-79;
GLN-101; TRP-101; ASN-124; ARG-171; VAL-175; LYS-191; TYR-191;
GLY-194; GLU-223; SER-227; SER-232; TYR-243; ARG-277; LEU-281;
SER-281; ILE-322; PHE-340; ASP-343; ARG-345; ASP-355; ILE-357;
GLN-378; CYS-393; MET-400 DEL; CYS-426; PHE-525; GLY-626; ARG-843;
CYS-859; LYS-875; LEU-896; PHE-927; CYS-931; ILE-934; PRO-939;
ASN-943; SER-949; TYR-949; LYS-973; PRO-986; GLY-998; LYS-1068;
GLY-1239; TYR-1239; ASP-1255; VAL-1275; SER-1284; PHE-1289 DEL;
SER-1316; PRO-1328; LYS-1367; SER-1391; GLY-1416; ILE-1431; MET-1437;
PHE-1473 DEL; ILE-1483 DEL; GLY-1484; ILE-1538; ALA-1544; LYS-1561;
GLU-1579; GLU-1586; CYS-1596; LEU-1596; ILE-1612; GLY-1639; HIS-1648;
ARG-1658; MET-1658; LYS-1664; ARG-1675; PHE-1677; LYS-1714; CYS-1725;
ASN-1771; THR-1780; HIS-1781; MET-1782; SER-1782; THR-1783; VAL-1783;
LYS-1788; ILE-1808; SER-1812; 1813-GLU--PHE-1815 DEL AND PHE-1835.
PubMed=18930999; DOI=10.1136/jmg.2008.062323;
Depienne C., Trouillard O., Saint-Martin C., Gourfinkel-An I.,
Bouteiller D., Carpentier W., Keren B., Abert B., Gautier A.,
Baulac S., Arzimanoglou A., Cazeneuve C., Nabbout R., LeGuern E.;
"Spectrum of SCN1A gene mutations associated with Dravet syndrome:
analysis of 333 patients.";
J. Med. Genet. 46:183-191(2009).
[61]
VARIANTS FHM3 HIS-1489 AND LEU-1499.
PubMed=19332696; DOI=10.1212/01.wnl.0000345393.53132.8c;
Vahedi K., Depienne C., Le Fort D., Riant F., Chaine P.,
Trouillard O., Gaudric A., Morris M.A., LeGuern E.,
Tournier-Lasserve E., Bousser M.-G.;
"Elicited repetitive daily blindness: a new phenotype associated with
hemiplegic migraine and SCN1A mutations.";
Neurology 72:1178-1183(2009).
[62]
VARIANT GEFS+2 HIS-388.
PubMed=19464195; DOI=10.1016/j.seizure.2009.04.009;
Mahoney K., Moore S.J., Buckley D., Alam M., Parfrey P., Penney S.,
Merner N., Hodgkinson K., Young T.L.;
"Variable neurologic phenotype in a GEFS+ family with a novel mutation
in SCN1A.";
Seizure 18:492-497(2009).
[63]
VARIANT THR-1067.
PubMed=20682179; DOI=10.1016/j.arcmed.2010.04.007;
Ebrahimi A., Houshmand M., Tonekaboni S.H.,
Fallah Mahboob Passand M.S., Zainali S., Moghadasi M.;
"Two novel mutations in SCN1A gene in Iranian patients with
epilepsy.";
Arch. Med. Res. 41:207-214(2010).
[64]
VARIANTS GEFS+2 HIS-946 AND LEU-1765, AND CHARACTERIZATION OF VARIANTS
GEFS+2 HIS-946 AND LEU-1765.
PubMed=20550552; DOI=10.1111/j.1528-1167.2010.02645.x;
Liao W.P., Shi Y.W., Long Y.S., Zeng Y., Li T., Yu M.J., Su T.,
Deng P., Lei Z.G., Xu S.J., Deng W.Y., Liu X.R., Sun W.W., Yi Y.H.,
Xu Z.C., Duan S.;
"Partial epilepsy with antecedent febrile seizures and seizure
aggravation by antiepileptic drugs: associated with loss of function
of Na(v) 1.1.";
Epilepsia 51:1669-1678(2010).
[65]
VARIANTS EIEE6 ILE-1612 AND GLY-1756.
PubMed=20452746; DOI=10.1016/j.eplepsyres.2010.04.003;
Herini E.S., Gunadi Harahap I.S., Yusoff S., Morikawa S., Patria S.Y.,
Nishimura N., Sunartini Sutaryo S., Takada S., Matsuo M., Nishio H.;
"Generalized epilepsy with febrile seizures plus (GEFS+) spectrum:
clinical manifestations and SCN1A mutations in Indonesian patients.";
Epilepsy Res. 90:132-139(2010).
[66]
VARIANT GLU-1637.
PubMed=20392657; DOI=10.1016/j.ejpn.2010.03.002;
Nishri D., Blumkin L., Lev D., Leshinsky-Silver E., Abu-Rashid M.,
Birch R., Zuberi S.M., Lerman-Sagie T.;
"Hepatic coma culminating in severe brain damage in a child with a
SCN1A mutation.";
Eur. J. Paediatr. Neurol. 14:456-459(2010).
[67]
VARIANTS EIEE6 GLN-862 AND LYS-954.
PubMed=20110217; DOI=10.1177/0883073809357241;
Arlier Z., Bayri Y., Kolb L.E., Erturk O., Ozturk A.K., Bayrakli F.,
Bilguvar K., Moliterno J.A., Dervent A., Demirbilek V., Yalcinkaya C.,
Korkmaz B., Tuysuz B., Gunel M.;
"Four novel SCN1A mutations in Turkish patients with severe myoclonic
epilepsy of infancy (SMEI).";
J. Child Neurol. 25:1265-1268(2010).
[68]
VARIANT GEFS+2 THR-27, VARIANTS EIEE6 LEU-63; VAL-239 AND ARG-1433,
AND VARIANT ASP-1308.
PubMed=20729507; DOI=10.1177/0883073810365737;
Nicita F., Spalice A., Papetti L., Ursitti F., Parisi P., Gennaro E.,
Zara F., Iannetti P.;
"Genotype-phenotype correlations in a group of 15 SCN1A-mutated
Italian patients with GEFS+ spectrum (seizures plus, classical and
borderline severe myoclonic epilepsy of infancy).";
J. Child Neurol. 25:1369-1376(2010).
[69]
VARIANTS EIEE6 SER-90; THR-91; TRP-101; GLN-101; THR-239; ARG-259;
HIS-393; TYR-939; GLY-952; LYS-1210; PRO-1260; PRO-1287; MET-1335;
MET-1390; GLU-1433; GLU-1586 AND THR-1783.
PubMed=20431604; DOI=10.1038/jhg.2010.39;
Sun H., Zhang Y., Liu X., Ma X., Yang Z., Qin J., Jiang Y., Qi Y.,
Wu X.;
"Analysis of SCN1A mutation and parental origin in patients with
Dravet syndrome.";
J. Hum. Genet. 55:421-427(2010).
[70]
VARIANTS EIEE6 CYS-84; GLN-101; LYS-171; THR-175; ASN-194; SER-227;
PHE-406; ASN-413; PRO-783; GLU-944; LEU-945; HIS-946; GLU-950;
GLY-1396; LYS-1450; VAL-1545; GLN-1645; ARG-1726 AND THR-1783, AND
VARIANTS HIS-604; GLN-1636 AND HIS-1657.
PubMed=19589774; DOI=10.1136/jmg.2008.065912;
Heron S.E., Scheffer I.E., Iona X., Zuberi S.M., Birch R.,
McMahon J.M., Bruce C.M., Berkovic S.F., Mulley J.C.;
"De novo SCN1A mutations in Dravet syndrome and related epileptic
encephalopathies are largely of paternal origin.";
J. Med. Genet. 47:137-141(2010).
[71]
VARIANTS EIEE6 ASN-124; TYR-191; LYS-875; LYS-1367; SER-1514;
HIS-1648; MET-1658; LYS-1664 AND MET-1782.
PubMed=20522430; DOI=10.1136/jmg.2009.074328;
Depienne C., Trouillard O., Gourfinkel-An I., Saint-Martin C.,
Bouteiller D., Graber D., Barthez-Carpentier M.A., Gautier A.,
Villeneuve N., Dravet C., Livet M.O., Rivier-Ringenbach C., Adam C.,
Dupont S., Baulac S., Heron D., Nabbout R., Leguern E.;
"Mechanisms for variable expressivity of inherited SCN1A mutations
causing Dravet syndrome.";
J. Med. Genet. 47:404-410(2010).
[72]
VARIANT GEFS+2 LYS-1795.
PubMed=20600615; DOI=10.1016/j.neulet.2010.06.040;
Li N., Zhang J., Guo J.F., Yan X.X., Xia K., Tang B.S.;
"Novel mutation of SCN1A in familial generalized epilepsy with febrile
seizures plus.";
Neurosci. Lett. 480:211-214(2010).
[73]
VARIANTS EIEE6 ILE-1612 AND GLY-1756.
PubMed=19563458; DOI=10.1111/j.1442-200X.2009.02916.x;
Herini E.S., Gunadi H., van Kempen M.J., Yusoff S., Sutaryo S.,
Patria S.Y., Matsuo M., Lindhout D., Nishio H.;
"Novel SCN1A mutations in Indonesian patients with severe myoclonic
epilepsy in infancy.";
Pediatr. Int. 52:234-239(2010).
[74]
VARIANT GEFS+2 PHE-1309.
PubMed=20117752; DOI=10.1016/j.pediatrneurol.2009.09.007;
Dimova P.S., Yordanova I., Bojinova V., Jordanova A., Kremenski I.;
"Generalized epilepsy with febrile seizures plus: novel SCN1A
mutation.";
Pediatr. Neurol. 42:137-140(2010).
[75]
VARIANT GEFS+2 HIS-859, VARIANT EIEE6 GLY-865, CHARACTERIZATION OF
VARIANT GEFS+2 HIS-859, AND CHARACTERIZATION OF VARIANTS EIEE6
GLY-865; CYS-946 AND HIS-946.
PubMed=21864321; DOI=10.1111/j.1460-9568.2011.07826.x;
Volkers L., Kahlig K.M., Verbeek N.E., Das J.H., van Kempen M.J.,
Stroink H., Augustijn P., van Nieuwenhuizen O., Lindhout D.,
George A.L. Jr., Koeleman B.P., Rook M.B.;
"Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or
Dravet syndrome.";
Eur. J. Neurosci. 34:1268-1275(2011).
[76]
VARIANTS EIEE6 PHE-17 DEL; THR-68; ASN-79; CYS-84; PRO-98; GLN-101;
TRP-101; ARG-108; ASP-127; ARG-199; SER-227; THR-227; SER-232;
ARG-233; VAL-342; ASP-343; TRP-351; SER-359; ARG-363; ARG-384;
CYS-393; HIS-393; VAL-400; VAL-403; PHE-406; GLY-626; ASP-762;
THR-785; ILE-812; ARG-842; 854-GLY-LEU-855 DEL; CYS-859; GLN-862;
PRO-890; CYS-932; PRO-933; CYS-946; HIS-946; ARG-950; LYS-954;
LYS-956; LEU-957; ILE-976; VAL-979; ARG-993; 999-ASN-LEU-1000 DELINS
LEU-ILE-SER; LYS-1208; LYS-1221; PHE-1230; ASP-1238; ALA-1266;
ASN-1288; VAL-1320; PRO-1326; GLY-1350; ARG-1358; PRO-1370; HIS-1378;
THR-1378; ILE-1394; TYR-1396; SER-1417; PHE-1423; ALA-1429 DEL;
VAL-1433; LYS-1450; SER-1451; LYS-1454; HIS-1462; LYS-1476; LYS-1503;
GLY-1544; GLU-1586; ARG-1588; HIS-1592; PRO-1592; SER-1605; GLU-1637;
THR-1638; CYS-1648; GLU-1653; PRO-1660; PRO-1667; LEU-1668; ILE-1672;
THR-1673; THR-1683; ASP-1684; TRP-1688; ARG-1714; ASN-1763; ASN-1770;
PHE-1770; THR-1770; THR-1780; VAL-1783; LYS-1787; PRO-1832; LYS-1852;
LEU-1855; GLU-1880; THR-1909 DEL AND ARG-1927 DELINS ILE-ILE-GLN,
VARIANTS GEFS+2 LEU-218; ILE-254; GLY-291; THR-960; VAL-973; SER-1204;
PHE-1230; ASP-1414; HIS-1596; LEU-1739 AND THR-1867, AND VARIANTS
ASN-45; VAL-333; ASN-382; HIS-604; ILE-699; THR-924; HIS-931;
GLU-1006; ILE-1079; THR-1109; ASP-1308; ASP-1326; MET-1483 AND
PHE-1683.
PubMed=21248271; DOI=10.1212/WNL.0b013e31820c309b;
Zuberi S.M., Brunklaus A., Birch R., Reavey E., Duncan J.,
Forbes G.H.;
"Genotype-phenotype associations in SCN1A-related epilepsies.";
Neurology 76:594-600(2011).
[77]
VARIANTS EIEE6 VAL-1339 AND LEU-1630.
PubMed=22092154; DOI=10.1111/j.1528-1167.2011.03311.x;
Okumura A., Uematsu M., Imataka G., Tanaka M., Okanishi T., Kubota T.,
Sudo A., Tohyama J., Tsuji M., Ohmori I., Naiki M., Hiraiwa-Sofue A.,
Sato H., Saitoh S., Shimizu T.;
"Acute encephalopathy in children with Dravet syndrome.";
Epilepsia 53:79-86(2012).
[78]
VARIANTS LEU-982; CYS-1575 AND LEU-1977.
PubMed=22309220; DOI=10.1111/j.1528-1167.2011.03402.x;
Saitoh M., Shinohara M., Hoshino H., Kubota M., Amemiya K.,
Takanashi J.L., Hwang S.K., Hirose S., Mizuguchi M.;
"Mutations of the SCN1A gene in acute encephalopathy.";
Epilepsia 53:558-564(2012).
[79]
VARIANTS EIEE6 VAL-289; ARG-379 AND HIS-393.
PubMed=22612257; DOI=10.1111/j.1528-1167.2012.03516.x;
Lemke J.R., Riesch E., Scheurenbrand T., Schubach M., Wilhelm C.,
Steiner I., Hansen J., Courage C., Gallati S., Buerki S., Strozzi S.,
Simonetti B.G., Grunt S., Steinlin M., Alber M., Wolff M.,
Klopstock T., Prott E.C., Lorenz R., Spaich C., Rona S.,
Lakshminarasimhan M., Kroell J., Dorn T., Kraemer G., Synofzik M.,
Becker F., Weber Y.G., Lerche H., Boehm D., Biskup S.;
"Targeted next generation sequencing as a diagnostic tool in epileptic
disorders.";
Epilepsia 53:1387-1398(2012).
[80]
VARIANTS EIEE6 CYS-84; GLN-101; TRP-101; ILE-105; ARG-179; ARG-190;
ARG-226; SER-227; ARG-259; ARG-280; ALA-281; PRO-363; ARG-384;
HIS-393; TRP-409; CYS-426; MET-875; ILE-876; PHE-896; ILE-934;
PHE-940; CYS-946; HIS-946; LEU-987; GLY-1316; VAL-1339; MET-1344;
PRO-1355; VAL-1385; GLY-1418; PRO-1427; CYS-1453; HIS-1462; SER-1472;
TYR-1485; GLU-1503 DEL; LYS-1503; VAL-1545; ARG-1555; GLY-1608;
LEU-1630; ASN-1638; SER-1642; VAL-1662; PRO-1667; PHE-1677; THR-1683;
SER-1692; CYS-1694; GLY-1727; ARG-1741; PHE-1766 DEL; PHE-1771;
THR-1783; VAL-1783 AND THR-1792, VARIANTS ICEGTC SER-90; GLN-101;
SER-178; MET-252; ARG-290; HIS-393; ILE-896; ALA-944; GLN-1213;
CYS-1254; THR-1325; PRO-1328; LEU-1357; ARG-1376; ASP-1429; HIS-1462;
LYS-1511; VAL-1619; SER-1684; PRO-1724; CYS-1781 AND TRP-1861, AND
VARIANTS GLN-542; HIS- AND CYS-1575.
PubMed=23195492; DOI=10.1016/j.eplepsyres.2012.06.006;
Wang J.W., Shi X.Y., Kurahashi H., Hwang S.K., Ishii A., Higurashi N.,
Kaneko S., Hirose S.;
"Prevalence of SCN1A mutations in children with suspected Dravet
syndrome and intractable childhood epilepsy.";
Epilepsy Res. 102:195-200(2012).
[81]
VARIANTS EIEE6 ASN-194 AND ASP-1238.
PubMed=23662938; DOI=10.1111/epi.12203;
Kodera H., Kato M., Nord A.S., Walsh T., Lee M., Yamanaka G.,
Tohyama J., Nakamura K., Nakagawa E., Ikeda T., Ben-Zeev B., Lev D.,
Lerman-Sagie T., Straussberg R., Tanabe S., Ueda K., Amamoto M.,
Ohta S., Nonoda Y., Nishiyama K., Tsurusaki Y., Nakashima M.,
Miyake N., Hayasaka K., King M.C., Matsumoto N., Saitsu H.;
"Targeted capture and sequencing for detection of mutations causing
early onset epileptic encephalopathy.";
Epilepsia 54:1262-1269(2013).
[82]
VARIANT ALA-1275.
PubMed=23647072; DOI=10.1111/epi.12201;
Veeramah K.R., Johnstone L., Karafet T.M., Wolf D., Sprissler R.,
Salogiannis J., Barth-Maron A., Greenberg M.E., Stuhlmann T.,
Weinert S., Jentsch T.J., Pazzi M., Restifo L.L., Talwar D.,
Erickson R.P., Hammer M.F.;
"Exome sequencing reveals new causal mutations in children with
epileptic encephalopathies.";
Epilepsia 54:1270-1281(2013).
[83]
VARIANTS ASN-45 AND TRP-1988, AND VARIANT ICEGTC SER-359.
PubMed=23708187; DOI=10.1038/ng.2646;
Carvill G.L., Heavin S.B., Yendle S.C., McMahon J.M., O'Roak B.J.,
Cook J., Khan A., Dorschner M.O., Weaver M., Calvert S., Malone S.,
Wallace G., Stanley T., Bye A.M., Bleasel A., Howell K.B., Kivity S.,
Mackay M.T., Rodriguez-Casero V., Webster R., Korczyn A., Afawi Z.,
Zelnick N., Lerman-Sagie T., Lev D., Moeller R.S., Gill D.,
Andrade D.M., Freeman J.L., Sadleir L.G., Shendure J., Berkovic S.F.,
Scheffer I.E., Mefford H.C.;
"Targeted resequencing in epileptic encephalopathies identifies de
novo mutations in CHD2 and SYNGAP1.";
Nat. Genet. 45:825-830(2013).
[84]
VARIANTS EIEE6 THR-113; 450-GLN--LYS-2009 DEL AND ARG-1588.
PubMed=25818041; DOI=10.1111/epi.12954;
Mercimek-Mahmutoglu S., Patel J., Cordeiro D., Hewson S., Callen D.,
Donner E.J., Hahn C.D., Kannu P., Kobayashi J., Minassian B.A.,
Moharir M., Siriwardena K., Weiss S.K., Weksberg R., Snead O.C. III;
"Diagnostic yield of genetic testing in epileptic encephalopathy in
childhood.";
Epilepsia 56:707-716(2015).
[85]
VARIANTS LEU-982; CYS-1575 AND SER-1674.
PubMed=26311622; DOI=10.1016/j.eplepsyres.2015.08.001;
Saitoh M., Ishii A., Ihara Y., Hoshino A., Terashima H., Kubota M.,
Kikuchi K., Yamanaka G., Amemiya K., Hirose S., Mizuguchi M.;
"Missense mutations in sodium channel SCN1A and SCN2A predispose
children to encephalopathy with severe febrile seizures.";
Epilepsy Res. 117:1-6(2015).
[86]
VARIANT VAL-1440.
PubMed=26637798; DOI=10.1016/j.neuron.2015.11.009;
D'Gama A.M., Pochareddy S., Li M., Jamuar S.S., Reiff R.E., Lam A.T.,
Sestan N., Walsh C.A.;
"Targeted DNA Sequencing from Autism Spectrum Disorder Brains
Implicates Multiple Genetic Mechanisms.";
Neuron 88:910-917(2015).
[87]
VARIANTS EIEE6 GLN-101; 1284-TRP--LYS-2009 DEL AND LEU-1345.
PubMed=26993267; DOI=10.1136/jmedgenet-2015-103263;
Trump N., McTague A., Brittain H., Papandreou A., Meyer E., Ngoh A.,
Palmer R., Morrogh D., Boustred C., Hurst J.A., Jenkins L.,
Kurian M.A., Scott R.H.;
"Improving diagnosis and broadening the phenotypes in early-onset
seizure and severe developmental delay disorders through gene panel
analysis.";
J. Med. Genet. 53:310-317(2016).
[88]
VARIANTS EIEE6 ARG-190; PRO-228; ILE-1605 AND GLN-1645, AND VARIANT
ASP-616.
PubMed=27864847; DOI=10.1002/humu.23149;
Clinical Study Group;
Parrini E., Marini C., Mei D., Galuppi A., Cellini E., Pucatti D.,
Chiti L., Rutigliano D., Bianchini C., Virdo S., De Vita D.,
Bigoni S., Barba C., Mari F., Montomoli M., Pisano T., Rosati A.,
Guerrini R.;
"Diagnostic targeted resequencing in 349 patients with drug-resistant
pediatric epilepsies identifies causative mutations in 30 different
genes.";
Hum. Mutat. 38:216-225(2017).
-!- FUNCTION: Mediates the voltage-dependent sodium ion permeability
of excitable membranes. Assuming opened or closed conformations in
response to the voltage difference across the membrane, the
protein forms a sodium-selective channel through which Na(+) ions
may pass in accordance with their electrochemical gradient. Plays
a key role in brain, probably by regulating the moment when
neurotransmitters are released in neurons. Involved in sensory
perception of mechanical pain: activation in somatosensory neurons
induces pain without neurogenic inflammation and produces
hypersensitivity to mechanical, but not thermal stimuli.
{ECO:0000250|UniProtKB:A2APX8}.
-!- ENZYME REGULATION: Inactivation of this channel is specifically
inhibited by the spider toxins Hm1a and Hm1b (H.maculata, AC
P60992 and AC P0DOC5) in somatosensory neurons to elicit acute
pain and mechanical allodynia. {ECO:0000250|UniProtKB:A2APX8}.
-!- SUBUNIT: The voltage-sensitive sodium channel consists of an ion
conducting pore forming alpha-subunit regulated by one or more
beta-1 (SCN1B), beta-2 (SCN2B), beta-3 (SCN3B) and/or beta-4
(SCN4B). Beta-1 (SCN1B) and beta-3 (SCN3B) are non-covalently
associated with alpha, while beta-2 (SCN2B) and beta-4 (SCN4B) are
covalently linked by disulfide bonds. Interacts with FGF13
(PubMed:21566136). Interacts with SCN1B (PubMed:17928445,
PubMed:15525788). Interacts with the conotoxin GVIIJ
(PubMed:24497506). Interacts with the spider beta/delta-
theraphotoxin-Pre1a (PubMed:28428547).
{ECO:0000269|PubMed:15525788, ECO:0000269|PubMed:17928445,
ECO:0000269|PubMed:21566136, ECO:0000269|PubMed:24497506,
ECO:0000269|PubMed:28428547}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17928445};
Multi-pass membrane protein {ECO:0000250|UniProtKB:D0E0C2}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=P35498-1; Sequence=Displayed;
Name=2;
IsoId=P35498-2; Sequence=VSP_001031;
Name=3;
IsoId=P35498-3; Sequence=VSP_045399;
-!- DOMAIN: The sequence contains 4 internal repeats, each with 5
hydrophobic segments (S1, S2, S3, S5, S6) and one positively
charged segment (S4). Segments S4 are probably the voltage-sensors
and are characterized by a series of positively charged amino
acids at every third position. {ECO:0000305}.
-!- DOMAIN: The S3b-S4 and S1-S2 loops of repeat IV are targeted by
H.maculata toxins Hm1a and Hm1b, leading to inhibit fast
inactivation of Nav1.1/SCN1A. Selectivity for H.maculata toxins
Hm1a and Hm1b depends on S1-S2 loops of repeat IV.
{ECO:0000250|UniProtKB:A2APX8}.
-!- PTM: Phosphorylation at Ser-1516 by PKC in a highly conserved
cytoplasmic loop slows inactivation of the sodium channel and
reduces peak sodium currents. {ECO:0000250|UniProtKB:P04775}.
-!- DISEASE: Generalized epilepsy with febrile seizures plus 2
(GEFS+2) [MIM:604403]: A rare autosomal dominant, familial
condition with incomplete penetrance and large intrafamilial
variability. Patients display febrile seizures persisting
sometimes beyond the age of 6 years and/or a variety of afebrile
seizure types. This disease combines febrile seizures, generalized
seizures often precipitated by fever at age 6 years or more, and
partial seizures, with a variable degree of severity.
{ECO:0000269|PubMed:10742094, ECO:0000269|PubMed:11254444,
ECO:0000269|PubMed:11254445, ECO:0000269|PubMed:11524484,
ECO:0000269|PubMed:11756608, ECO:0000269|PubMed:12535936,
ECO:0000269|PubMed:12576172, ECO:0000269|PubMed:12919402,
ECO:0000269|PubMed:14672992, ECO:0000269|PubMed:15525788,
ECO:0000269|PubMed:15694566, ECO:0000269|PubMed:15715999,
ECO:0000269|PubMed:16525050, ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:17507202, ECO:0000269|PubMed:17561957,
ECO:0000269|PubMed:17927801, ECO:0000269|PubMed:17928445,
ECO:0000269|PubMed:18251839, ECO:0000269|PubMed:18413471,
ECO:0000269|PubMed:18566737, ECO:0000269|PubMed:19339291,
ECO:0000269|PubMed:19464195, ECO:0000269|PubMed:19522081,
ECO:0000269|PubMed:20117752, ECO:0000269|PubMed:20550552,
ECO:0000269|PubMed:20600615, ECO:0000269|PubMed:20729507,
ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21864321}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Epileptic encephalopathy, early infantile, 6 (EIEE6)
[MIM:607208]: A severe form of epileptic encephalopathy
characterized by generalized tonic, clonic, and tonic-clonic
seizures that are initially induced by fever and begin during the
first year of life. Later, patients also manifest other seizure
types, including absence, myoclonic, and simple and complex
partial seizures. Psychomotor development delay is observed around
the second year of life. Some patients manifest a borderline
disease phenotype and do not necessarily fulfill all diagnostic
criteria for core EIEE6. EIEE6 is considered to be the most severe
phenotype within the spectrum of generalized epilepsies with
febrile seizures-plus. {ECO:0000269|PubMed:11359211,
ECO:0000269|PubMed:12083760, ECO:0000269|PubMed:12566275,
ECO:0000269|PubMed:12754708, ECO:0000269|PubMed:12821740,
ECO:0000269|PubMed:14504318, ECO:0000269|PubMed:14672992,
ECO:0000269|PubMed:14738421, ECO:0000269|PubMed:15087100,
ECO:0000269|PubMed:15944908, ECO:0000269|PubMed:16122630,
ECO:0000269|PubMed:16458823, ECO:0000269|PubMed:16713920,
ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:17054685,
ECO:0000269|PubMed:17129991, ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:17561957, ECO:0000269|PubMed:18413471,
ECO:0000269|PubMed:18639757, ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:19522081, ECO:0000269|PubMed:19563458,
ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:19783390,
ECO:0000269|PubMed:20110217, ECO:0000269|PubMed:20431604,
ECO:0000269|PubMed:20452746, ECO:0000269|PubMed:20522430,
ECO:0000269|PubMed:20729507, ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:21864321, ECO:0000269|PubMed:22092154,
ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:23195492,
ECO:0000269|PubMed:23662938, ECO:0000269|PubMed:23708187,
ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26993267,
ECO:0000269|PubMed:27864847}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Intractable childhood epilepsy with generalized tonic-
clonic seizures (ICEGTC) [MIM:607208]: A disorder characterized by
generalized tonic-clonic seizures beginning usually in infancy and
induced by fever. Seizures are associated with subsequent mental
decline, as well as ataxia or hypotonia. ICEGTC is similar to
SMEI, except for the absence of myoclonic seizures.
{ECO:0000269|PubMed:12566275, ECO:0000269|PubMed:16210358,
ECO:0000269|PubMed:17507202, ECO:0000269|PubMed:23195492,
ECO:0000269|PubMed:23708187}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]: A
subtype of migraine associated with transient blindness in some
families. Migraine is a disabling symptom complex of periodic
headaches, usually temporal and unilateral. Headaches are often
accompanied by irritability, nausea, vomiting and photophobia,
preceded by constriction of the cranial arteries. The two major
subtypes are common migraine (migraine without aura) and classic
migraine (migraine with aura). Classic migraine is characterized
by recurrent attacks of reversible neurological symptoms (aura)
that precede or accompany the headache. Aura may include a
combination of sensory disturbances, such as blurred vision,
hallucinations, vertigo, numbness and difficulty in concentrating
and speaking. {ECO:0000269|PubMed:16054936,
ECO:0000269|PubMed:17397047, ECO:0000269|PubMed:18021921,
ECO:0000269|PubMed:19332696}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Febrile seizures, familial, 3A (FEB3A) [MIM:604403]:
Seizures associated with febrile episodes in childhood without any
evidence of intracranial infection or defined pathologic or
traumatic cause. It is a common condition, affecting 2-5% of
children aged 3 months to 5 years. The majority are simple febrile
seizures (generally defined as generalized onset, single seizures
with a duration of less than 30 minutes). Complex febrile seizures
are characterized by focal onset, duration greater than 30
minutes, and/or more than one seizure in a 24 hour period. The
likelihood of developing epilepsy following simple febrile
seizures is low. Complex febrile seizures are associated with a
moderately increased incidence of epilepsy.
{ECO:0000269|PubMed:16326807, ECO:0000269|PubMed:19522081}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Note=SCN1A mutations may be involved in Panayiotopoulos
syndrome, a benign age-related focal seizure disorder occurring in
early and mid-childhood. It is characterized by seizures, often
prolonged, with predominantly autonomic symptoms, and by an
electroencephalogram that shows shifting and/or multiple foci,
often with occipital predominance. Autonomic seizures in
Panayiotopoulos syndrome consist of episodes of disturbed
autonomic function with emesis as the predominant symptom.
Cardiorespiratory arrest is exceptional.
{ECO:0000269|PubMed:17679682, ECO:0000269|PubMed:19339291,
ECO:0000269|PubMed:19522081}.
-!- SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family.
Nav1.1/SCN1A subfamily. {ECO:0000305}.
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EMBL; AF225985; AAK00217.1; -; mRNA.
EMBL; AY043484; AAK95360.1; -; mRNA.
EMBL; AB093548; BAC21101.1; -; mRNA.
EMBL; AB093549; BAC21102.1; -; mRNA.
EMBL; AB098335; BAC45228.1; -; mRNA.
EMBL; AC010127; AAX81984.1; -; Genomic_DNA.
EMBL; S71446; AAB31605.1; -; Genomic_DNA.
EMBL; X65362; CAA46439.1; -; mRNA.
EMBL; M91803; -; NOT_ANNOTATED_CDS; mRNA.
CCDS; CCDS33316.1; -. [P35498-2]
CCDS; CCDS54413.1; -. [P35498-1]
CCDS; CCDS54414.1; -. [P35498-3]
PIR; I52964; I52964.
PIR; S29184; S29184.
RefSeq; NP_001159435.1; NM_001165963.1. [P35498-1]
RefSeq; NP_001159436.1; NM_001165964.1. [P35498-3]
RefSeq; NP_001189364.1; NM_001202435.1. [P35498-1]
RefSeq; NP_008851.3; NM_006920.4. [P35498-2]
RefSeq; XP_011509904.1; XM_011511602.2. [P35498-1]
RefSeq; XP_011509906.1; XM_011511604.2. [P35498-2]
RefSeq; XP_011509908.1; XM_011511606.2. [P35498-3]
RefSeq; XP_016860133.1; XM_017004644.1. [P35498-1]
RefSeq; XP_016860134.1; XM_017004645.1. [P35498-2]
RefSeq; XP_016860135.1; XM_017004646.1. [P35498-2]
RefSeq; XP_016860136.1; XM_017004647.1. [P35498-2]
RefSeq; XP_016860137.1; XM_017004648.1. [P35498-2]
RefSeq; XP_016860138.1; XM_017004649.1. [P35498-2]
RefSeq; XP_016860140.1; XM_017004651.1. [P35498-3]
RefSeq; XP_016860141.1; XM_017004652.1. [P35498-3]
UniGene; Hs.22654; -.
UniGene; Hs.629873; -.
UniGene; Hs.693440; -.
UniGene; Hs.740081; -.
ProteinModelPortal; P35498; -.
SMR; P35498; -.
BioGrid; 112228; 3.
DIP; DIP-59851N; -.
IntAct; P35498; 2.
MINT; MINT-6542725; -.
STRING; 9606.ENSP00000303540; -.
BindingDB; P35498; -.
ChEMBL; CHEMBL1845; -.
DrugBank; DB04855; Dronedarone.
DrugBank; DB01595; Nitrazepam.
DrugBank; DB04930; Permethrin.
DrugBank; DB01121; Phenacemide.
DrugBank; DB01438; Phenazopyridine.
DrugBank; DB00252; Phenytoin.
DrugBank; DB05232; Tetrodotoxin.
DrugBank; DB00273; Topiramate.
DrugBank; DB00313; Valproic Acid.
DrugBank; DB00909; Zonisamide.
GuidetoPHARMACOLOGY; 578; -.
TCDB; 1.A.1.10.7; the voltage-gated ion channel (vic) superfamily.
iPTMnet; P35498; -.
PhosphoSitePlus; P35498; -.
BioMuta; SCN1A; -.
DMDM; 12644229; -.
PaxDb; P35498; -.
PeptideAtlas; P35498; -.
PRIDE; P35498; -.
Ensembl; ENST00000303395; ENSP00000303540; ENSG00000144285. [P35498-1]
Ensembl; ENST00000375405; ENSP00000364554; ENSG00000144285. [P35498-2]
Ensembl; ENST00000409050; ENSP00000386312; ENSG00000144285. [P35498-3]
Ensembl; ENST00000423058; ENSP00000407030; ENSG00000144285. [P35498-1]
Ensembl; ENST00000635750; ENSP00000490799; ENSG00000144285. [P35498-2]
Ensembl; ENST00000637988; ENSP00000490780; ENSG00000144285. [P35498-2]
GeneID; 6323; -.
KEGG; hsa:6323; -.
UCSC; uc061pes.1; human. [P35498-1]
CTD; 6323; -.
DisGeNET; 6323; -.
GeneCards; SCN1A; -.
GeneReviews; SCN1A; -.
HGNC; HGNC:10585; SCN1A.
HPA; HPA078664; -.
MalaCards; SCN1A; -.
MIM; 182389; gene.
MIM; 604403; phenotype.
MIM; 607208; phenotype.
MIM; 609634; phenotype.
neXtProt; NX_P35498; -.
OpenTargets; ENSG00000144285; -.
Orphanet; 33069; Dravet syndrome.
Orphanet; 569; Familial or sporadic hemiplegic migraine.
Orphanet; 36387; Generalized epilepsy with febrile seizures-plus.
Orphanet; 2382; Lennox-Gastaut syndrome.
Orphanet; 293181; Malignant migrating partial seizures of infancy.
PharmGKB; PA301; -.
eggNOG; ENOG410INF8; Eukaryota.
eggNOG; COG1226; LUCA.
GeneTree; ENSGT00830000128242; -.
HOGENOM; HOG000231755; -.
HOVERGEN; HBG053100; -.
InParanoid; P35498; -.
KO; K04833; -.
OMA; CMSNHTT; -.
OrthoDB; EOG091G00FK; -.
PhylomeDB; P35498; -.
TreeFam; TF323985; -.
Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation.
SIGNOR; P35498; -.
GeneWiki; Nav1.1; -.
GenomeRNAi; 6323; -.
PRO; PR:P35498; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000144285; -.
CleanEx; HS_SCN1A; -.
ExpressionAtlas; P35498; baseline and differential.
Genevisible; P35498; HS.
GO; GO:0043194; C:axon initial segment; IEA:Ensembl.
GO; GO:0014704; C:intercalated disc; IEA:Ensembl.
GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
GO; GO:0033268; C:node of Ranvier; IEA:Ensembl.
GO; GO:0016604; C:nuclear body; IDA:HPA.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005886; C:plasma membrane; IDA:HPA.
GO; GO:0030315; C:T-tubule; IEA:Ensembl.
GO; GO:0001518; C:voltage-gated sodium channel complex; IEA:InterPro.
GO; GO:0030018; C:Z disc; ISS:BHF-UCL.
GO; GO:0005248; F:voltage-gated sodium channel activity; ISS:UniProtKB.
GO; GO:0007628; P:adult walking behavior; IEA:Ensembl.
GO; GO:0086002; P:cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL.
GO; GO:0050966; P:detection of mechanical stimulus involved in sensory perception of pain; ISS:UniProtKB.
GO; GO:0086010; P:membrane depolarization during action potential; IBA:GO_Central.
GO; GO:0050884; P:neuromuscular process controlling posture; IEA:Ensembl.
GO; GO:0019228; P:neuronal action potential; IBA:GO_Central.
GO; GO:0019227; P:neuronal action potential propagation; IEA:Ensembl.
GO; GO:0006814; P:sodium ion transport; ISS:UniProtKB.
InterPro; IPR005821; Ion_trans_dom.
InterPro; IPR008051; Na_channel_a1su.
InterPro; IPR001696; Na_channel_asu.
InterPro; IPR010526; Na_trans_assoc.
InterPro; IPR024583; Na_trans_cytopl.
Pfam; PF00520; Ion_trans; 4.
Pfam; PF06512; Na_trans_assoc; 1.
Pfam; PF11933; Na_trans_cytopl; 1.
PRINTS; PR00170; NACHANNEL.
PRINTS; PR01664; NACHANNEL1.
1: Evidence at protein level;
Alternative splicing; Autism; Autism spectrum disorder; Cell membrane;
Complete proteome; Disease mutation; Disulfide bond; Epilepsy;
Glycoprotein; Ion channel; Ion transport; Membrane; Phosphoprotein;
Polymorphism; Reference proteome; Repeat; Sodium; Sodium channel;
Sodium transport; Transmembrane; Transmembrane helix; Transport;
Voltage-gated channel.
CHAIN 1 2009 Sodium channel protein type 1 subunit
alpha.
/FTId=PRO_0000048489.
TOPO_DOM 1 128 Cytoplasmic. {ECO:0000305}.
TRANSMEM 129 147 Helical; Name=S1 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 148 154 Extracellular. {ECO:0000305}.
TRANSMEM 155 175 Helical; Name=S2 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 176 189 Cytoplasmic. {ECO:0000305}.
TRANSMEM 190 207 Helical; Name=S3 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 208 213 Extracellular. {ECO:0000305}.
TRANSMEM 214 230 Helical; Name=S4 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 231 249 Cytoplasmic. {ECO:0000305}.
TRANSMEM 250 269 Helical; Name=S5 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 270 367 Extracellular. {ECO:0000305}.
INTRAMEM 368 392 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 393 399 Extracellular. {ECO:0000305}.
TRANSMEM 400 420 Helical; Name=S6 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 421 768 Cytoplasmic. {ECO:0000305}.
TRANSMEM 769 787 Helical; Name=S1 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 788 798 Extracellular. {ECO:0000305}.
TRANSMEM 799 818 Helical; Name=S2 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 819 832 Cytoplasmic. {ECO:0000305}.
TRANSMEM 833 852 Helical; Name=S3 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 853 854 Extracellular. {ECO:0000305}.
TRANSMEM 855 872 Helical; Name=S4 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 873 888 Cytoplasmic. {ECO:0000305}.
TRANSMEM 889 907 Helical; Name=S5 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 908 936 Extracellular. {ECO:0000305}.
INTRAMEM 937 957 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 958 970 Extracellular. {ECO:0000305}.
TRANSMEM 971 991 Helical; Name=S6 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 992 1219 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1220 1237 Helical; Name=S1 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1238 1250 Extracellular. {ECO:0000305}.
TRANSMEM 1251 1269 Helical; Name=S2 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1270 1283 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1284 1302 Helical; Name=S3 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1303 1310 Extracellular. {ECO:0000305}.
TRANSMEM 1311 1329 Helical; Name=S4 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1330 1346 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1347 1366 Helical; Name=S5 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1367 1418 Extracellular. {ECO:0000305}.
INTRAMEM 1419 1440 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1441 1457 Extracellular. {ECO:0000305}.
TRANSMEM 1458 1479 Helical; Name=S6 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1480 1542 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1543 1560 Helical; Name=S1 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1561 1571 Extracellular. {ECO:0000305}.
TRANSMEM 1572 1590 Helical; Name=S2 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1591 1602 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1603 1620 Helical; Name=S3 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1621 1633 Extracellular. {ECO:0000305}.
TRANSMEM 1634 1650 Helical; Name=S4 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1651 1669 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1670 1687 Helical; Name=S5 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1688 1709 Extracellular. {ECO:0000305}.
INTRAMEM 1710 1732 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1733 1762 Extracellular. {ECO:0000305}.
TRANSMEM 1763 1785 Helical; Name=S6 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1786 2009 Cytoplasmic. {ECO:0000305}.
REPEAT 110 454 I. {ECO:0000305}.
REPEAT 750 1022 II. {ECO:0000305}.
REPEAT 1200 1514 III. {ECO:0000305}.
REPEAT 1523 1821 IV. {ECO:0000305}.
DOMAIN 1915 1944 IQ.
REGION 1561 1571 S1-S2 loop of repeat IV.
{ECO:0000250|UniProtKB:A2APX8}.
REGION 1619 1636 S3b-S4 loop of repeat IV.
{ECO:0000250|UniProtKB:A2APX8}.
SITE 1574 1574 Key residue that permits the spider
beta/delta-theraphotoxin-Pre1a to inhibit
fast inactivation of the channel.
{ECO:0000269|PubMed:28428547}.
MOD_RES 470 470 Phosphoserine.
{ECO:0000250|UniProtKB:P04774}.
MOD_RES 523 523 Phosphoserine.
{ECO:0000250|UniProtKB:P04774}.
MOD_RES 525 525 Phosphoserine.
{ECO:0000250|UniProtKB:P04774}.
MOD_RES 550 550 Phosphoserine.
{ECO:0000250|UniProtKB:P04774}.
MOD_RES 551 551 Phosphoserine.
{ECO:0000250|UniProtKB:A2APX8}.
MOD_RES 607 607 Phosphoserine.
{ECO:0000250|UniProtKB:P04774}.
MOD_RES 730 730 Phosphoserine.
{ECO:0000250|UniProtKB:P04774}.
MOD_RES 1516 1516 Phosphoserine; by PKC.
{ECO:0000250|UniProtKB:P04775}.
CARBOHYD 211 211 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 284 284 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 295 295 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 301 301 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 306 306 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 338 338 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1378 1378 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1392 1392 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1403 1403 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 277 345 {ECO:0000250|UniProtKB:D0E0C2}.
DISULFID 919 919 Interchain; with SCN2B or SCN4B.
{ECO:0000250|UniProtKB:P04775}.
DISULFID 919 919 Interchain; with the conotoxin GVIIJ
(when the channel is not linked to SCN2B
or SCN4B; the bond to SCN2B or SCN4B
protects the channel from the inhibition
by toxin).
{ECO:0000250|UniProtKB:P04775}.
DISULFID 959 968 {ECO:0000250|UniProtKB:D0E0C2}.
VAR_SEQ 654 681 Missing (in isoform 3).
{ECO:0000303|Ref.4}.
/FTId=VSP_045399.
VAR_SEQ 671 681 Missing (in isoform 2).
{ECO:0000303|Ref.2, ECO:0000303|Ref.3,
ECO:0000303|Ref.4}.
/FTId=VSP_001031.
VARIANT 17 17 Missing (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073441.
VARIANT 27 27 R -> T (in GEFS+2; dbSNP:rs121917906).
{ECO:0000269|PubMed:20729507}.
/FTId=VAR_064229.
VARIANT 45 45 D -> N (found in a patient with an
unclassified form of epilepsy; also found
in a patient with epilepsy-aphasia and
febrile seizures plus; unknown
pathological significance;
dbSNP:rs531894715).
{ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23708187}.
/FTId=VAR_073442.
VARIANT 58 58 G -> V (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073443.
VARIANT 61 61 L -> F (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073444.
VARIANT 63 63 F -> L (in EIEE6; dbSNP:rs121917907).
{ECO:0000269|PubMed:20729507}.
/FTId=VAR_064230.
VARIANT 68 68 I -> T (in EIEE6; borderline phenotype;
dbSNP:rs758871507).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073445.
VARIANT 74 74 S -> P (in GEFS+2; dbSNP:rs121917931).
{ECO:0000269|PubMed:17561957}.
/FTId=VAR_064295.
VARIANT 78 78 E -> D (in EIEE6; dbSNP:rs121917933).
{ECO:0000269|PubMed:12821740,
ECO:0000269|PubMed:17054684}.
/FTId=VAR_029660.
VARIANT 79 79 D -> H (in EIEE6; borderline phenotype;
dbSNP:rs121917982).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:18930999}.
/FTId=VAR_064346.
VARIANT 79 79 D -> N (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073446.
VARIANT 84 84 Y -> C (in EIEE6; dbSNP:rs121917964).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:19589774,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23195492,
ECO:0000269|PubMed:27864847}.
/FTId=VAR_043349.
VARIANT 90 90 F -> S (in EIEE6 and ICEGTC;
dbSNP:rs121918733).
{ECO:0000269|PubMed:20431604,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_064231.
VARIANT 91 91 I -> T (in EIEE6; dbSNP:rs121918734).
{ECO:0000269|PubMed:20431604}.
/FTId=VAR_064232.
VARIANT 98 98 A -> P (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073447.
VARIANT 101 101 R -> Q (in EIEE6 and ICEGTC;
dbSNP:rs121917918).
{ECO:0000269|PubMed:14738421,
ECO:0000269|PubMed:17561957,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:19589774,
ECO:0000269|PubMed:20431604,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23195492,
ECO:0000269|PubMed:26993267}.
/FTId=VAR_029661.
VARIANT 101 101 R -> W (in EIEE6; dbSNP:rs121917965).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:20431604,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_064233.
VARIANT 103 103 S -> G (in EIEE6; dbSNP:rs121918743).
{ECO:0000269|PubMed:12566275}.
/FTId=VAR_029662.
VARIANT 105 105 T -> I (in EIEE6; dbSNP:rs796053089).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073448.
VARIANT 108 108 L -> R (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073449.
VARIANT 112 112 T -> I (in EIEE6; dbSNP:rs121918745).
{ECO:0000269|PubMed:12566275}.
/FTId=VAR_029663.
VARIANT 113 113 P -> T (in EIEE6; dbSNP:rs794726711).
{ECO:0000269|PubMed:25818041}.
/FTId=VAR_078725.
VARIANT 118 118 R -> S (in EIEE6; dbSNP:rs121917959).
{ECO:0000269|PubMed:18413471}.
/FTId=VAR_043350.
VARIANT 124 124 I -> N (in EIEE6; dbSNP:rs121918761).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:20522430}.
/FTId=VAR_064234.
VARIANT 127 127 H -> D (in EIEE6; borderline phenotype;
dbSNP:rs148442069).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073450.
VARIANT 145 145 M -> T (in FEB3A; loss of function;
dbSNP:rs121918631).
{ECO:0000269|PubMed:16326807}.
/FTId=VAR_025366.
VARIANT 162 162 T -> P (in EIEE6; dbSNP:rs121917934).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064296.
VARIANT 171 171 I -> K (in EIEE6; dbSNP:rs121918766).
{ECO:0000269|PubMed:19589774}.
/FTId=VAR_064235.
VARIANT 171 171 I -> R (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073451.
VARIANT 175 175 A -> T (in EIEE6; dbSNP:rs121918767).
{ECO:0000269|PubMed:19589774}.
/FTId=VAR_064236.
VARIANT 175 175 A -> V (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073452.
VARIANT 177 177 G -> E (in EIEE6; results in a non-
functional channel; dbSNP:rs121918770).
{ECO:0000269|PubMed:12821740,
ECO:0000269|PubMed:17054685}.
/FTId=VAR_029664.
VARIANT 178 178 F -> S (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073453.
VARIANT 179 179 C -> R (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073454.
VARIANT 188 188 D -> V (in GEFS+2; results in increased
membrane excitability as suggested by
increased resistance to cumulative
inactivation during high frequency
activation; dbSNP:rs121917953).
{ECO:0000269|PubMed:11254444,
ECO:0000269|PubMed:12576172}.
/FTId=VAR_014267.
VARIANT 190 190 W -> R (in EIEE6; dbSNP:rs121918773).
{ECO:0000269|PubMed:14738421,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029665.
VARIANT 191 191 N -> K (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073455.
VARIANT 191 191 N -> Y (in EIEE6; dbSNP:rs121918762).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:20522430}.
/FTId=VAR_064237.
VARIANT 194 194 D -> G (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073456.
VARIANT 194 194 D -> N (in EIEE6; dbSNP:rs121917935).
{ECO:0000269|PubMed:17054684,
ECO:0000269|PubMed:19589774,
ECO:0000269|PubMed:23662938,
ECO:0000269|PubMed:27864847}.
/FTId=VAR_064238.
VARIANT 199 199 T -> R (in EIEE6; borderline phenotype
with spike wave activity;
dbSNP:rs121917983).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064347.
VARIANT 217 217 T -> K (in EIEE6; dbSNP:rs121917936).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064297.
VARIANT 218 218 F -> L (in GEFS+2; also found in patients
with Panayiotopoulos syndrome).
{ECO:0000269|PubMed:19339291,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_073457.
VARIANT 223 223 A -> E (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073458.
VARIANT 226 226 T -> M (in EIEE6; borderline phenotype;
also found in a patient with cryptogenic
generalized epilepsy; dbSNP:rs121917984).
{ECO:0000269|PubMed:17347258}.
/FTId=VAR_043351.
VARIANT 226 226 T -> R (in EIEE6; dbSNP:rs121917984).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073459.
VARIANT 227 227 I -> S (in EIEE6; borderline phenotype
with spike wave activity in some
patients; results in a non-functional
channel; dbSNP:rs121917937).
{ECO:0000269|PubMed:12821740,
ECO:0000269|PubMed:17054684,
ECO:0000269|PubMed:17054685,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:19589774,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029666.
VARIANT 227 227 I -> T (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073460.
VARIANT 228 228 S -> P (in EIEE6).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078192.
VARIANT 232 232 G -> S (in EIEE6).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_073461.
VARIANT 233 233 L -> R (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073462.
VARIANT 239 239 A -> T (in EIEE6; borderline phenotype
with spike wave activity in some
patients; dbSNP:rs121917985).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:20431604}.
/FTId=VAR_043352.
VARIANT 239 239 A -> V (in EIEE6; dbSNP:rs121917909).
{ECO:0000269|PubMed:20729507}.
/FTId=VAR_064239.
VARIANT 243 243 S -> Y (in EIEE6; dbSNP:rs794726755).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073463.
VARIANT 252 252 I -> M (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073464.
VARIANT 252 252 I -> N (in EIEE6; dbSNP:rs121918780).
{ECO:0000269|PubMed:15087100}.
/FTId=VAR_029667.
VARIANT 254 254 T -> I (in GEFS+2).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073465.
VARIANT 259 259 S -> R (in EIEE6; dbSNP:rs121918735).
{ECO:0000269|PubMed:20431604,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_064240.
VARIANT 265 265 G -> W (in EIEE6; dbSNP:rs121918749).
{ECO:0000269|PubMed:12566275}.
/FTId=VAR_029668.
VARIANT 277 277 C -> R (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073466.
VARIANT 280 280 W -> C (in EIEE6).
{ECO:0000269|PubMed:18639757}.
/FTId=VAR_073467.
VARIANT 280 280 W -> R (in EIEE6; dbSNP:rs121917938).
{ECO:0000269|PubMed:12821740,
ECO:0000269|PubMed:17054684,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029669.
VARIANT 281 281 P -> A (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073468.
VARIANT 281 281 P -> L (in EIEE6; dbSNP:rs796052964).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073469.
VARIANT 281 281 P -> S (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073470.
VARIANT 289 289 E -> V (in EIEE6).
{ECO:0000269|PubMed:22612257}.
/FTId=VAR_072743.
VARIANT 290 290 H -> R (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073471.
VARIANT 291 291 S -> G (in GEFS+2).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073472.
VARIANT 297 297 T -> I (in EIEE6; dbSNP:rs121918771).
{ECO:0000269|PubMed:12821740}.
/FTId=VAR_029670.
VARIANT 322 322 R -> I (in EIEE6; dbSNP:rs121917928).
{ECO:0000269|PubMed:17561957,
ECO:0000269|PubMed:18930999}.
/FTId=VAR_064298.
VARIANT 333 333 A -> V. {ECO:0000269|PubMed:21248271}.
/FTId=VAR_073473.
VARIANT 340 340 S -> F (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073474.
VARIANT 342 342 A -> V (in EIEE6; dbSNP:rs794726797).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073475.
VARIANT 343 343 G -> D (in EIEE6; dbSNP:rs121918753).
{ECO:0000269|PubMed:12566275,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_029671.
VARIANT 345 345 C -> R (in EIEE6; dbSNP:rs794726782).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073476.
VARIANT 351 351 C -> W (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073477.
VARIANT 355 355 G -> D (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073478.
VARIANT 356 356 R -> G (in EIEE6; dbSNP:rs121917920).
{ECO:0000269|PubMed:17561957}.
/FTId=VAR_064299.
VARIANT 357 357 N -> I (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073479.
VARIANT 358 358 P -> T (in EIEE6; dbSNP:rs121917923).
{ECO:0000269|PubMed:17561957}.
/FTId=VAR_064300.
VARIANT 359 359 N -> S (in EIEE6 and ICEGTC;
dbSNP:rs794726713).
{ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23708187}.
/FTId=VAR_073480.
VARIANT 363 363 T -> P (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073481.
VARIANT 363 363 T -> R (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073482.
VARIANT 366 366 D -> E (in EIEE6; dbSNP:rs121917958).
{ECO:0000269|PubMed:18413471}.
/FTId=VAR_043353.
VARIANT 377 377 R -> Q (in GEFS+2; dbSNP:rs121917957).
{ECO:0000269|PubMed:18413471}.
/FTId=VAR_043354.
VARIANT 378 378 L -> Q (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073483.
VARIANT 379 379 M -> R (in EIEE6).
{ECO:0000269|PubMed:22612257}.
/FTId=VAR_072744.
VARIANT 382 382 D -> N (probable disease-associated
mutation found in a patient with an
unclassified form of epilepsy).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073484.
VARIANT 383 383 F -> L (in EIEE6; dbSNP:rs121917939).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064301.
VARIANT 384 384 W -> R (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073485.
VARIANT 388 388 Y -> H (in GEFS+2; dbSNP:rs121918781).
{ECO:0000269|PubMed:19464195}.
/FTId=VAR_064241.
VARIANT 393 393 R -> C (in EIEE6; also in a patient with
myoclonic astatic epilepsy;
dbSNP:rs121917929).
{ECO:0000269|PubMed:17054684,
ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:17561957,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_043355.
VARIANT 393 393 R -> H (in EIEE6 and ICEGTC; results in a
non-functional channel;
dbSNP:rs121917927).
{ECO:0000269|PubMed:12754708,
ECO:0000269|PubMed:17054685,
ECO:0000269|PubMed:17561957,
ECO:0000269|PubMed:20431604,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:22612257,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029672.
VARIANT 393 393 R -> S (in EIEE6; dbSNP:rs121917929).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064302.
VARIANT 395 395 A -> P (probable disease-associated
mutation found in a patient with
cryptogenic generalized epilepsy;
dbSNP:rs121917988).
{ECO:0000269|PubMed:17347258}.
/FTId=VAR_043356.
VARIANT 400 400 M -> V (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073486.
VARIANT 400 400 Missing (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073487.
VARIANT 403 403 F -> L (in EIEE6; dbSNP:rs121917966).
{ECO:0000269|PubMed:16713920,
ECO:0000269|PubMed:17347258}.
/FTId=VAR_064303.
VARIANT 403 403 F -> V (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073488.
VARIANT 406 406 V -> F (in EIEE6; dbSNP:rs121918768).
{ECO:0000269|PubMed:19589774,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064242.
VARIANT 409 409 L -> W (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073489.
VARIANT 413 413 Y -> N (in EIEE6; dbSNP:rs121917967).
{ECO:0000269|PubMed:16713920,
ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:19589774}.
/FTId=VAR_064243.
VARIANT 422 422 V -> E (probable disease-associated
mutation found in a patient with
cryptogenic generalized epilepsy;
dbSNP:rs121917989).
{ECO:0000269|PubMed:17347258}.
/FTId=VAR_043357.
VARIANT 426 426 Y -> C (in EIEE6; dbSNP:rs796052973).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073490.
VARIANT 426 426 Y -> N (in EIEE6; results in decreased
peak current densities; causes a negative
shift in the half-maximal steady-state
inactivation and delayed recovery from
fast inactivation; dbSNP:rs121917940).
{ECO:0000269|PubMed:12821740,
ECO:0000269|PubMed:17054684,
ECO:0000269|PubMed:17054685}.
/FTId=VAR_029673.
VARIANT 450 2009 Missing (in EIEE6).
{ECO:0000269|PubMed:25818041}.
/FTId=VAR_078726.
VARIANT 525 525 S -> F (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073491.
VARIANT 542 542 R -> Q (found in a patient with
intractable epilepsy and in a patient
with generalized epilepsy with febril
seizures; also found in patients with
autism; unknown pathological
significance; dbSNP:rs121918817).
{ECO:0000269|PubMed:12610651,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:19522081,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029674.
VARIANT 604 604 R -> H (rare variant; found in patients
with early infantile epileptic
encephalopathy and in patients with
intractable epilepsy; unknown
pathological significance;
dbSNP:rs121918769).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:19589774,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_064244.
VARIANT 616 616 E -> D (probable disease-associated
mutation found in a patient with drug-
resistant epilepsy and mild cognitive
impairment).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078193.
VARIANT 626 626 S -> G (in EIEE6; also found in a patient
with cryptogenic generalized epilepsy;
dbSNP:rs121917990).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_043358.
VARIANT 674 674 D -> G (in EIEE6).
{ECO:0000269|PubMed:17347258}.
/FTId=VAR_073492.
VARIANT 699 699 V -> I. {ECO:0000269|PubMed:21248271}.
/FTId=VAR_073493.
VARIANT 762 762 N -> D (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073494.
VARIANT 783 783 L -> P (in EIEE6; dbSNP:rs121917968).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:19589774}.
/FTId=VAR_064245.
VARIANT 785 785 M -> T (in EIEE6; dbSNP:rs796053095).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073495.
VARIANT 790 790 Y -> C (in GEFS+2; dbSNP:rs121918782).
{ECO:0000269|PubMed:12919402}.
/FTId=VAR_029675.
VARIANT 790 790 Y -> F (probable disease-associated
mutation found in patients with
Panayiotopoulos syndrome;
dbSNP:rs121918782).
{ECO:0000269|PubMed:17679682,
ECO:0000269|PubMed:19522081}.
/FTId=VAR_073496.
VARIANT 808 808 T -> S (in ICEGTC; results in increased
peak current density and delayed slow
inactivation onset; recovery from slow
inactivation is delayed;
dbSNP:rs121918758).
{ECO:0000269|PubMed:12566275,
ECO:0000269|PubMed:16210358}.
/FTId=VAR_029676.
VARIANT 812 812 T -> I (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073497.
VARIANT 812 812 T -> R (in EIEE6; dbSNP:rs121917941).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064304.
VARIANT 842 842 L -> R (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073498.
VARIANT 843 843 S -> R (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073499.
VARIANT 846 846 E -> K (in EIEE6; dbSNP:rs121917942).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064305.
VARIANT 854 855 Missing (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073500.
VARIANT 859 859 R -> C (in GEFS+2 and EIEE6; causes a
positive shift in the voltage dependence
of channel activation, slower recovery
from slow inactivation and lower levels
of current compared with the wild-type
channel; dbSNP:rs121918784).
{ECO:0000269|PubMed:16525050,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064306.
VARIANT 859 859 R -> H (in GEFS+2; results in impaired
channel fast inactivation and
significantly increased persistent
current; dbSNP:rs398123588).
{ECO:0000269|PubMed:21864321}.
/FTId=VAR_073501.
VARIANT 862 862 R -> Q (in EIEE6; dbSNP:rs121918785).
{ECO:0000269|PubMed:20110217,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064246.
VARIANT 865 865 R -> G (in EIEE6; results in impaired
channel fast inactivation and
significantly increased persistent
current). {ECO:0000269|PubMed:21864321}.
/FTId=VAR_073502.
VARIANT 875 875 T -> K (in EIEE6; dbSNP:rs121918623).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:20522430}.
/FTId=VAR_064247.
VARIANT 875 875 T -> M (in GEFS+2 and EIEE6; borderline
phenotype; dbSNP:rs121918623).
{ECO:0000269|PubMed:10742094,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_010110.
VARIANT 876 876 L -> I (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073503.
VARIANT 890 890 L -> P (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073504.
VARIANT 896 896 V -> F (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073505.
VARIANT 896 896 V -> I (in ICEGTC; dbSNP:rs745378416).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073506.
VARIANT 896 896 V -> L (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073507.
VARIANT 899 899 I -> T (in GEFS+2).
{ECO:0000269|PubMed:19522081}.
/FTId=VAR_073508.
VARIANT 902 902 F -> C (in EIEE6; dbSNP:rs121918787).
{ECO:0000269|PubMed:12083760}.
/FTId=VAR_029677.
VARIANT 924 924 A -> T (in dbSNP:rs141950573).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_073509.
VARIANT 927 927 C -> F (in EIEE6; dbSNP:rs794726811).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073510.
VARIANT 931 931 R -> C (in EIEE6; dbSNP:rs121918788).
{ECO:0000269|PubMed:12083760,
ECO:0000269|PubMed:18930999}.
/FTId=VAR_029678.
VARIANT 931 931 R -> H (probable disease-associated
mutation found in a patient with an
unclassified form of epilepsy;
dbSNP:rs794726718).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073511.
VARIANT 932 932 W -> C (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073512.
VARIANT 933 933 H -> P (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073513.
VARIANT 934 934 M -> I (in EIEE6; dbSNP:rs121918774).
{ECO:0000269|PubMed:14738421,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029679.
VARIANT 935 935 N -> H (in GEFS+2).
{ECO:0000269|PubMed:18566737}.
/FTId=VAR_073514.
VARIANT 939 939 H -> P (in EIEE6; unknown pathological
significance).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073515.
VARIANT 939 939 H -> Q (in EIEE6; results in a non-
functional channel; dbSNP:rs121918795).
{ECO:0000269|PubMed:12754708,
ECO:0000269|PubMed:17054685}.
/FTId=VAR_029680.
VARIANT 939 939 H -> Y (in EIEE6; dbSNP:rs121918736).
{ECO:0000269|PubMed:20431604}.
/FTId=VAR_064248.
VARIANT 940 940 S -> F (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073516.
VARIANT 942 942 L -> P (in EIEE6; dbSNP:rs121917943).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064307.
VARIANT 943 943 I -> N (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073517.
VARIANT 944 944 V -> A (in EIEE6 and ICEGTC;
dbSNP:rs121917969).
{ECO:0000269|PubMed:14738421,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029681.
VARIANT 944 944 V -> E (in EIEE6).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:19589774}.
/FTId=VAR_064249.
VARIANT 945 945 F -> L (in EIEE6; dbSNP:rs121917970).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:19589774}.
/FTId=VAR_064250.
VARIANT 946 946 R -> C (in EIEE6; loss-of-function
mutation resulting in complete absence of
sodium current; dbSNP:rs121918775).
{ECO:0000269|PubMed:14738421,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:21864321,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029682.
VARIANT 946 946 R -> H (in EIEE6 and GEFS+2; GEFS+2
phenotype consists of partial epilepsy
with antecedent febrile seizures and
seizure aggravation by antiepileptic
drugs; loss-of-function mutation
resulting in complete absence of sodium
current; dbSNP:rs121917971).
{ECO:0000269|PubMed:14738421,
ECO:0000269|PubMed:16713920,
ECO:0000269|PubMed:19589774,
ECO:0000269|PubMed:20550552,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:21864321,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029683.
VARIANT 946 946 R -> S (in EIEE6; dbSNP:rs121918775).
{ECO:0000269|PubMed:15944908}.
/FTId=VAR_057995.
VARIANT 949 949 C -> S (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073518.
VARIANT 949 949 C -> Y (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073519.
VARIANT 950 950 G -> E (in EIEE6; dbSNP:rs121917972).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:19589774}.
/FTId=VAR_064251.
VARIANT 950 950 G -> R (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073520.
VARIANT 952 952 W -> G (in EIEE6; dbSNP:rs121918737).
{ECO:0000269|PubMed:20431604}.
/FTId=VAR_064252.
VARIANT 954 954 E -> K (in EIEE6; dbSNP:rs121918786).
{ECO:0000269|PubMed:20110217,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064253.
VARIANT 956 956 M -> K (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073521.
VARIANT 957 957 W -> L (in EIEE6; dbSNP:rs121917917).
{ECO:0000269|PubMed:17561957,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064308.
VARIANT 959 959 C -> R (in EIEE6; results in a non-
functional channel; dbSNP:rs121918796).
{ECO:0000269|PubMed:12754708,
ECO:0000269|PubMed:17054685}.
/FTId=VAR_029684.
VARIANT 960 960 M -> T (in GEFS+2).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073522.
VARIANT 960 960 M -> V (in EIEE6; dbSNP:rs121918750).
{ECO:0000269|PubMed:12566275}.
/FTId=VAR_029685.
VARIANT 973 973 M -> K (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073523.
VARIANT 973 973 M -> V (in GEFS+2; dbSNP:rs121917991).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_043359.
VARIANT 976 976 M -> I (in EIEE6 and GEFS+2).
{ECO:0000269|PubMed:19522081,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_073524.
VARIANT 978 978 I -> M (in GEFS+2; unknown pathological
significance).
{ECO:0000269|PubMed:17927801}.
/FTId=VAR_073525.
VARIANT 979 979 G -> R (in ICEGTC; loss-of-function
mutation resulting in absence of sodium
current; dbSNP:rs121918754).
{ECO:0000269|PubMed:12566275,
ECO:0000269|PubMed:16210358}.
/FTId=VAR_029686.
VARIANT 979 979 G -> V (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073526.
VARIANT 982 982 V -> L (found in a patient with acute
encephalopathy with biphasic seizures and
late reduced diffusion; unknown
pathological significance).
{ECO:0000269|PubMed:22309220,
ECO:0000269|PubMed:26311622}.
/FTId=VAR_075569.
VARIANT 983 983 V -> A (in ICEGTC; reduced function;
decreased peak current density; results
in a negative shift of inactivation and
positive shift of activation;
dbSNP:rs121918756).
{ECO:0000269|PubMed:12566275,
ECO:0000269|PubMed:16210358}.
/FTId=VAR_029687.
VARIANT 985 985 N -> I (in EIEE6; dbSNP:rs121918747).
{ECO:0000269|PubMed:12566275}.
/FTId=VAR_029688.
VARIANT 986 986 L -> F (in EIEE6; complete loss of
function; dbSNP:rs121918625).
{ECO:0000269|PubMed:11359211,
ECO:0000269|PubMed:14672992}.
/FTId=VAR_014268.
VARIANT 986 986 L -> P (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073527.
VARIANT 987 987 F -> L (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073528.
VARIANT 993 993 S -> R (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073529.
VARIANT 998 998 D -> G (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073530.
VARIANT 999 1000 NL -> LIS (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073531.
VARIANT 1006 1006 D -> E (probable disease-associated
mutation found in a patient with an
unclassified form of epilepsy;
dbSNP:rs375909896).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073532.
VARIANT 1011 1011 N -> I (in ICEGTC; results in reduced
peak current density and hyperpolarizing
shift in inactivation;
dbSNP:rs121918759).
{ECO:0000269|PubMed:12566275,
ECO:0000269|PubMed:16210358}.
/FTId=VAR_029689.
VARIANT 1034 1034 I -> T (associated with autism;
dbSNP:rs121918818).
{ECO:0000269|PubMed:12610651}.
/FTId=VAR_029690.
VARIANT 1038 1038 F -> L (associated with autism).
{ECO:0000269|PubMed:12610651}.
/FTId=VAR_029691.
VARIANT 1067 1067 A -> T (in dbSNP:rs2298771).
{ECO:0000269|PubMed:11254444,
ECO:0000269|PubMed:12083760,
ECO:0000269|PubMed:12566275,
ECO:0000269|PubMed:12610651,
ECO:0000269|PubMed:16122630,
ECO:0000269|PubMed:19694741,
ECO:0000269|PubMed:20682179,
ECO:0000269|Ref.4}.
/FTId=VAR_014269.
VARIANT 1068 1068 E -> K (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073533.
VARIANT 1079 1079 V -> I. {ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_073534.
VARIANT 1109 1109 P -> T (in dbSNP:rs753452775).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_073535.
VARIANT 1174 1174 T -> S (in FHM3; dbSNP:rs121918799).
{ECO:0000269|PubMed:18021921}.
/FTId=VAR_064309.
VARIANT 1204 1204 W -> R (in GEFS+2; causes hyperpolarized
shifts in the voltage dependence of
activation and steady-state inactivation;
dbSNP:rs121917930).
{ECO:0000269|PubMed:11254445,
ECO:0000269|PubMed:12535936,
ECO:0000269|PubMed:17561957}.
/FTId=VAR_014270.
VARIANT 1204 1204 W -> S (in GEFS+2).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073536.
VARIANT 1207 1207 L -> P (in EIEE6; dbSNP:rs121917963).
{ECO:0000269|PubMed:18413471}.
/FTId=VAR_043360.
VARIANT 1208 1208 R -> K (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073537.
VARIANT 1210 1210 T -> K (in EIEE6; dbSNP:rs121918738).
{ECO:0000269|PubMed:20431604}.
/FTId=VAR_064254.
VARIANT 1213 1213 R -> Q (in ICEGTC; dbSNP:rs566081370).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073538.
VARIANT 1221 1221 E -> K (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073539.
VARIANT 1230 1230 L -> F (in EIEE6 and GEFS+2).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073540.
VARIANT 1231 1231 S -> R (in EIEE6; dbSNP:rs121918746).
{ECO:0000269|PubMed:12566275}.
/FTId=VAR_029692.
VARIANT 1231 1231 S -> T (in EIEE6; dbSNP:rs121918800).
{ECO:0000269|PubMed:16458823}.
/FTId=VAR_064310.
VARIANT 1233 1233 G -> R (in EIEE6; dbSNP:rs121917911).
{ECO:0000269|PubMed:12821740,
ECO:0000269|PubMed:17054684}.
/FTId=VAR_029693.
VARIANT 1238 1238 E -> D (in EIEE6; dbSNP:rs121917973).
{ECO:0000269|PubMed:16713920,
ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23662938}.
/FTId=VAR_043361.
VARIANT 1239 1239 D -> G (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073541.
VARIANT 1239 1239 D -> Y (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073542.
VARIANT 1245 1245 R -> Q (in EIEE6; dbSNP:rs121917912).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064311.
VARIANT 1249 1249 K -> N (in GEFS+2).
{ECO:0000269|PubMed:19522081}.
/FTId=VAR_073543.
VARIANT 1250 1250 T -> M (in GEFS+2; dbSNP:rs140731963).
{ECO:0000269|PubMed:19522081}.
/FTId=VAR_073544.
VARIANT 1254 1254 Y -> C (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073545.
VARIANT 1255 1255 A -> D (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073546.
VARIANT 1260 1260 T -> P (in EIEE6; dbSNP:rs121918739).
{ECO:0000269|PubMed:20431604}.
/FTId=VAR_064255.
VARIANT 1263 1263 F -> L (in EIEE6; dbSNP:rs121918752).
{ECO:0000269|PubMed:12566275}.
/FTId=VAR_029694.
VARIANT 1265 1265 L -> P (in EIEE6; dbSNP:rs121918794).
{ECO:0000269|PubMed:12083760}.
/FTId=VAR_029695.
VARIANT 1266 1266 E -> A (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073547.
VARIANT 1270 1270 K -> T (in GEFS+2; dbSNP:rs121918626).
{ECO:0000269|PubMed:11756608}.
/FTId=VAR_014271.
VARIANT 1275 1275 G -> A (found in a child with sporadic
epilepsy; unknown pathological
significance).
{ECO:0000269|PubMed:23647072}.
/FTId=VAR_077831.
VARIANT 1275 1275 G -> V (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073548.
VARIANT 1284 2009 Missing (in EIEE6).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078727.
VARIANT 1284 1284 W -> S (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073549.
VARIANT 1287 1287 L -> P (in EIEE6; dbSNP:rs121918740).
{ECO:0000269|PubMed:20431604}.
/FTId=VAR_064256.
VARIANT 1288 1288 D -> N (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073550.
VARIANT 1289 1289 Missing (in EIEE6; results in a non-
functional channel).
{ECO:0000269|PubMed:12083760,
ECO:0000269|PubMed:17054685,
ECO:0000269|PubMed:18930999}.
/FTId=VAR_029696.
VARIANT 1308 1308 E -> D (in FEB3A; also found in patients
with early infantile epileptic
encephalopathy; unknown pathological
significance; dbSNP:rs121917910).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:19522081,
ECO:0000269|PubMed:20729507,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064257.
VARIANT 1309 1309 L -> F (in GEFS+2; dbSNP:rs121918801).
{ECO:0000269|PubMed:20117752}.
/FTId=VAR_064258.
VARIANT 1316 1316 R -> G (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073551.
VARIANT 1316 1316 R -> S (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073552.
VARIANT 1320 1320 A -> V (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073553.
VARIANT 1325 1325 R -> T (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073554.
VARIANT 1326 1326 A -> D (probable disease-associated
mutation found in a patient with an
unclassified form of epilepsy).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073555.
VARIANT 1326 1326 A -> P (in EIEE6; dbSNP:rs121918803).
{ECO:0000269|PubMed:14504318,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_029698.
VARIANT 1328 1328 S -> P (in ICEGTC and EIEE6).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073556.
VARIANT 1335 1335 V -> M (in EIEE6; dbSNP:rs121917960).
{ECO:0000269|PubMed:18413471,
ECO:0000269|PubMed:20431604}.
/FTId=VAR_043362.
VARIANT 1339 1339 A -> V (in EIEE6; dbSNP:rs794726789).
{ECO:0000269|PubMed:22092154,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073557.
VARIANT 1344 1344 I -> M (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073558.
VARIANT 1345 1345 P -> L (in EIEE6).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078728.
VARIANT 1350 1350 V -> G (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073559.
VARIANT 1353 1353 V -> L (in GEFS+2; complete loss of
function; dbSNP:rs121917954).
{ECO:0000269|PubMed:11254444,
ECO:0000269|PubMed:14672992}.
/FTId=VAR_014272.
VARIANT 1355 1355 L -> P (in EIEE6; dbSNP:rs121918776).
{ECO:0000269|PubMed:14738421,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029697.
VARIANT 1357 1357 F -> L (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073560.
VARIANT 1358 1358 W -> R (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073561.
VARIANT 1358 1358 W -> S (in EIEE6; dbSNP:rs121917961).
{ECO:0000269|PubMed:18413471}.
/FTId=VAR_043363.
VARIANT 1366 1366 V -> I (in GEFS+2 and ICEGTC;
dbSNP:rs121918805).
{ECO:0000269|PubMed:17507202}.
/FTId=VAR_043364.
VARIANT 1367 1367 N -> K (in EIEE6; dbSNP:rs121918760).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:20522430}.
/FTId=VAR_064259.
VARIANT 1370 1370 A -> P (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073562.
VARIANT 1376 1376 C -> R (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073563.
VARIANT 1378 1378 N -> H (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073564.
VARIANT 1378 1378 N -> T (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073565.
VARIANT 1385 1385 F -> V (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073566.
VARIANT 1390 1390 V -> M (in EIEE6; some patients have a
borderline EIEE6 phenotype;
dbSNP:rs121917986).
{ECO:0000269|PubMed:12083760,
ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:20431604}.
/FTId=VAR_029699.
VARIANT 1391 1391 N -> S (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073567.
VARIANT 1393 1393 H -> P (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:17129991}.
/FTId=VAR_073568.
VARIANT 1394 1394 T -> I (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073569.
VARIANT 1396 1396 C -> G (in EIEE6; some patients have a
borderline EIEE6 phenotype;
dbSNP:rs121917987).
{ECO:0000269|PubMed:16713920,
ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:19589774}.
/FTId=VAR_064260.
VARIANT 1396 1396 C -> Y (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073570.
VARIANT 1414 1414 N -> D (in GEFS+2).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073571.
VARIANT 1414 1414 N -> Y (in EIEE6; dbSNP:rs121917925).
{ECO:0000269|PubMed:17561957}.
/FTId=VAR_064312.
VARIANT 1416 1416 D -> G (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073572.
VARIANT 1417 1417 N -> S (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073573.
VARIANT 1418 1418 V -> G (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073574.
VARIANT 1422 1422 Y -> C (in EIEE6; dbSNP:rs121917913).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064313.
VARIANT 1423 1423 L -> F (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073575.
VARIANT 1426 1426 L -> R (in EIEE6; dbSNP:rs121917944).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064314.
VARIANT 1427 1427 Q -> P (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073576.
VARIANT 1428 1428 V -> A (in GEFS+2; dbSNP:rs121918627).
{ECO:0000269|PubMed:11524484}.
/FTId=VAR_029700.
VARIANT 1429 1429 A -> D (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073577.
VARIANT 1429 1429 Missing (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073578.
VARIANT 1431 1431 F -> I (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073579.
VARIANT 1433 1433 G -> E (in EIEE6; dbSNP:rs121918741).
{ECO:0000269|PubMed:20431604}.
/FTId=VAR_064261.
VARIANT 1433 1433 G -> R (in EIEE6; dbSNP:rs121917908).
{ECO:0000269|PubMed:20729507}.
/FTId=VAR_064262.
VARIANT 1433 1433 G -> V (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073580.
VARIANT 1434 1434 W -> R (in EIEE6; dbSNP:rs121918789).
{ECO:0000269|PubMed:12083760,
ECO:0000269|PubMed:12754708}.
/FTId=VAR_029701.
VARIANT 1437 1437 I -> M (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073581.
VARIANT 1440 1440 A -> V (found in a patient with autism;
unknown pathological significance).
{ECO:0000269|PubMed:26637798}.
/FTId=VAR_078729.
VARIANT 1441 1441 A -> P (in EIEE6; dbSNP:rs121917974).
{ECO:0000269|PubMed:17347258}.
/FTId=VAR_064348.
VARIANT 1450 1450 Q -> K (in EIEE6; dbSNP:rs121918806).
{ECO:0000269|PubMed:19589774,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064263.
VARIANT 1450 1450 Q -> R (in EIEE6; dbSNP:rs121918790).
{ECO:0000269|PubMed:12083760}.
/FTId=VAR_029702.
VARIANT 1451 1451 P -> L (in EIEE6; dbSNP:rs121917945).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064315.
VARIANT 1451 1451 P -> S (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073582.
VARIANT 1453 1453 Y -> C (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073583.
VARIANT 1454 1454 E -> K (in EIEE6; dbSNP:rs796053012).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073584.
VARIANT 1461 1461 L -> I (in EIEE6; dbSNP:rs121918772).
{ECO:0000269|PubMed:12821740}.
/FTId=VAR_029703.
VARIANT 1462 1462 Y -> C (in EIEE6; dbSNP:rs121917962).
{ECO:0000269|PubMed:18413471}.
/FTId=VAR_043365.
VARIANT 1462 1462 Y -> H (in EIEE6 and ICEGTC; borderline
EIEE6 phenotype).
{ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073585.
VARIANT 1463 1463 F -> S (in EIEE6; dbSNP:rs121917946).
{ECO:0000269|PubMed:12821740,
ECO:0000269|PubMed:17054684}.
/FTId=VAR_029704.
VARIANT 1470 1470 G -> W (in EIEE6; dbSNP:rs121917924).
{ECO:0000269|PubMed:17561957}.
/FTId=VAR_064316.
VARIANT 1472 1472 F -> S (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073586.
VARIANT 1473 1473 Missing (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073587.
VARIANT 1475 1475 L -> S (in EIEE6; dbSNP:rs121917947).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064317.
VARIANT 1476 1476 N -> K (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073588.
VARIANT 1480 1480 G -> V (probable disease-associated
mutation found in a patient with
myoclonic astatic epilepsy;
dbSNP:rs121917996).
{ECO:0000269|PubMed:17347258}.
/FTId=VAR_043366.
VARIANT 1483 1483 I -> M (probable disease-associated
mutation found in a patient with an
unclassified form of epilepsy).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073589.
VARIANT 1483 1483 Missing (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073590.
VARIANT 1484 1484 D -> G (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073591.
VARIANT 1485 1485 N -> Y (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073592.
VARIANT 1489 1489 Q -> H (in FHM3; dbSNP:rs121918633).
{ECO:0000269|PubMed:19332696}.
/FTId=VAR_057996.
VARIANT 1489 1489 Q -> K (in FHM3; dbSNP:rs121918628).
{ECO:0000269|PubMed:16054936}.
/FTId=VAR_025281.
VARIANT 1499 1499 F -> L (in FHM3; dbSNP:rs121918632).
{ECO:0000269|PubMed:19332696}.
/FTId=VAR_057997.
VARIANT 1503 1503 E -> K (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:19783390,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073593.
VARIANT 1503 1503 Missing (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073594.
VARIANT 1511 1511 M -> K (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073595.
VARIANT 1514 1514 L -> S (in EIEE6; dbSNP:rs121918764).
{ECO:0000269|PubMed:20522430}.
/FTId=VAR_064264.
VARIANT 1538 1538 V -> I (in EIEE6; dbSNP:rs780360360).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073596.
VARIANT 1543 1543 F -> S (in a patient with cryptogenic
focal epilepsy; dbSNP:rs121917992).
{ECO:0000269|PubMed:17347258}.
/FTId=VAR_043367.
VARIANT 1544 1544 D -> A (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073597.
VARIANT 1544 1544 D -> G (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073598.
VARIANT 1545 1545 I -> V (in EIEE6; dbSNP:rs121917975).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:19589774,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_064265.
VARIANT 1555 1555 M -> R (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073599.
VARIANT 1559 1559 Missing (in EIEE6).
{ECO:0000269|PubMed:14738421}.
/FTId=VAR_029705.
VARIANT 1561 1561 E -> K (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073600.
VARIANT 1575 1575 R -> C (found in a patient with
intractable epilepsy and patients with
Dravet syndrome; found in a patient with
acute necrotizing encephalopathy and also
found in a patient with acute
encephalopathy with biphasic seizures and
late reduced diffusion; unknown
pathological significance;
dbSNP:rs121918807).
{ECO:0000269|PubMed:18031552,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:22309220,
ECO:0000269|PubMed:23195492,
ECO:0000269|PubMed:26311622}.
/FTId=VAR_064318.
VARIANT 1579 1579 V -> E (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073601.
VARIANT 1586 1586 G -> E (in EIEE6; dbSNP:rs121918742).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:20431604,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064266.
VARIANT 1588 1588 C -> R (in EIEE6; dbSNP:rs121917919).
{ECO:0000269|PubMed:17561957,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:25818041}.
/FTId=VAR_064319.
VARIANT 1592 1592 L -> H (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073602.
VARIANT 1592 1592 L -> P (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073603.
VARIANT 1596 1596 R -> C (in EIEE6; also found in a patient
with cryptogenic focal epilepsy;
dbSNP:rs121917993).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:18930999}.
/FTId=VAR_043368.
VARIANT 1596 1596 R -> H (in GEFS+2; dbSNP:rs575368466).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073604.
VARIANT 1596 1596 R -> L (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073605.
VARIANT 1605 1605 N -> I (in EIEE6).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078194.
VARIANT 1605 1605 N -> S (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073606.
VARIANT 1608 1608 D -> G (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073607.
VARIANT 1608 1608 D -> Y (in EIEE6; dbSNP:rs121917915).
{ECO:0000269|PubMed:17561957}.
/FTId=VAR_064320.
VARIANT 1611 1611 V -> F (in ICEGTC; results in greater
levels of persistent non-inactivating
current compared to wild-type;
dbSNP:rs121918630).
{ECO:0000269|PubMed:12566275,
ECO:0000269|PubMed:16210358}.
/FTId=VAR_029706.
VARIANT 1612 1612 V -> I (in EIEE6; dbSNP:rs121918808).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:19563458,
ECO:0000269|PubMed:20452746}.
/FTId=VAR_064267.
VARIANT 1619 1619 M -> V (in ICEGTC; dbSNP:rs373967247).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073608.
VARIANT 1630 1630 V -> L (in EIEE6; borderline phenotype in
some patients).
{ECO:0000269|PubMed:22092154,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073609.
VARIANT 1630 1630 V -> M (in EIEE6; dbSNP:rs121917914).
{ECO:0000269|PubMed:17561957}.
/FTId=VAR_064321.
VARIANT 1632 1632 P -> S (in ICEGTC; results in greater
levels of persistent non-inactivating
current compared to wild-type;
dbSNP:rs121918755).
{ECO:0000269|PubMed:12566275,
ECO:0000269|PubMed:16210358}.
/FTId=VAR_029707.
VARIANT 1636 1636 R -> Q (probable disease-associated
mutation found in a patient with Lennon-
Gastaut syndrome; dbSNP:rs121917995).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:19589774}.
/FTId=VAR_043369.
VARIANT 1637 1637 V -> E (in EIEE6; also found in a child
with febrile status epilepticus who
developed liver failure;
dbSNP:rs121918810).
{ECO:0000269|PubMed:20392657,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064268.
VARIANT 1638 1638 I -> N (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073610.
VARIANT 1638 1638 I -> T (in EIEE6; also found in a patient
with an unclassified form of epilepsy).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073611.
VARIANT 1639 1639 R -> G (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073612.
VARIANT 1642 1642 R -> S (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073613.
VARIANT 1645 1645 R -> Q (in EIEE6; dbSNP:rs121917976).
{ECO:0000269|PubMed:16713920,
ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:19589774}.
/FTId=VAR_064269.
VARIANT 1648 1648 R -> C (in EIEE6; dbSNP:rs121918791).
{ECO:0000269|PubMed:12083760,
ECO:0000269|PubMed:19522081,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_029708.
VARIANT 1648 1648 R -> H (in GEFS+2 and EIEE6;
dbSNP:rs121918622).
{ECO:0000269|PubMed:10742094,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:20522430}.
/FTId=VAR_010111.
VARIANT 1649 1649 L -> Q (in FHM3).
{ECO:0000269|PubMed:17397047}.
/FTId=VAR_064322.
VARIANT 1653 1653 A -> E (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073614.
VARIANT 1656 1656 I -> M (in GEFS+2; exhibits a
depolarizing shift in the voltage
dependence of activation;
dbSNP:rs121917955).
{ECO:0000269|PubMed:11254444,
ECO:0000269|PubMed:14672992}.
/FTId=VAR_014273.
VARIANT 1657 1657 R -> C (in GEFS+2; exhibits a
depolarizing shift in the voltage
dependence of activation; shows a 50%
reduction in current density and
accelerates recovery from slow
inactivation; dbSNP:rs121918811).
{ECO:0000269|PubMed:14672992}.
/FTId=VAR_029709.
VARIANT 1657 1657 R -> H (probable disease-associated
mutation found in a patient with
cryptogenic focal epilepsy;
dbSNP:rs121917994).
{ECO:0000269|PubMed:17347258,
ECO:0000269|PubMed:19589774}.
/FTId=VAR_043370.
VARIANT 1658 1658 T -> M (in EIEE6; dbSNP:rs121917922).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:20522430}.
/FTId=VAR_064270.
VARIANT 1658 1658 T -> R (in EIEE6; dbSNP:rs121917922).
{ECO:0000269|PubMed:17561957,
ECO:0000269|PubMed:18930999}.
/FTId=VAR_064323.
VARIANT 1660 1660 L -> P (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073615.
VARIANT 1661 1661 F -> S (in EIEE6; dbSNP:rs121918797).
{ECO:0000269|PubMed:12754708}.
/FTId=VAR_029710.
VARIANT 1662 1662 A -> V (in EIEE6; borderline phenotype;
dbSNP:rs794726839).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073616.
VARIANT 1664 1664 M -> K (in EIEE6; dbSNP:rs121918765).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:20522430}.
/FTId=VAR_064271.
VARIANT 1667 1667 L -> P (in EIEE6).
{ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073617.
VARIANT 1668 1668 P -> A (in EIEE6; dbSNP:rs121917948).
{ECO:0000269|PubMed:12821740,
ECO:0000269|PubMed:17054684}.
/FTId=VAR_029711.
VARIANT 1668 1668 P -> L (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073618.
VARIANT 1672 1672 N -> I (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073619.
VARIANT 1673 1673 I -> T (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073620.
VARIANT 1674 1674 G -> R (in EIEE6; dbSNP:rs121918792).
{ECO:0000269|PubMed:12083760}.
/FTId=VAR_029712.
VARIANT 1674 1674 G -> S (found in a patient acute
encephalopathy with biphasic seizures and
late reduced diffusion; unknown
pathological significance).
{ECO:0000269|PubMed:26311622}.
/FTId=VAR_075570.
VARIANT 1675 1675 L -> R (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073621.
VARIANT 1677 1677 L -> F (in EIEE6).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073622.
VARIANT 1683 1683 I -> F (probable disease-associated
mutation found in a patient with an
unclassified form of epilepsy).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073623.
VARIANT 1683 1683 I -> T (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073624.
VARIANT 1684 1684 Y -> D (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073625.
VARIANT 1684 1684 Y -> S (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073626.
VARIANT 1685 1685 A -> D (in EIEE6; dbSNP:rs121918744).
{ECO:0000269|PubMed:12566275}.
/FTId=VAR_029714.
VARIANT 1685 1685 A -> V (in GEFS+2; complete loss of
function; dbSNP:rs121918744).
{ECO:0000269|PubMed:11524484,
ECO:0000269|PubMed:14672992}.
/FTId=VAR_029715.
VARIANT 1687 1687 F -> S (in GEFS+2; dbSNP:rs121917932).
{ECO:0000269|PubMed:17561957}.
/FTId=VAR_064324.
VARIANT 1688 1688 G -> W (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073627.
VARIANT 1692 1692 F -> S (in EIEE6; dbSNP:rs121918778).
{ECO:0000269|PubMed:14738421,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029716.
VARIANT 1694 1694 Y -> C (in EIEE6; dbSNP:rs121918777).
{ECO:0000269|PubMed:14738421,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029713.
VARIANT 1707 1707 F -> V (in EIEE6; dbSNP:rs121917977).
{ECO:0000269|PubMed:17347258}.
/FTId=VAR_064349.
VARIANT 1709 1709 T -> I (in ICEGTC; loss-of-function
mutation resulting in absence of sodium
current; dbSNP:rs121918629).
{ECO:0000269|PubMed:12566275,
ECO:0000269|PubMed:16210358}.
/FTId=VAR_029717.
VARIANT 1713 1713 S -> N (in EIEE6; dbSNP:rs121918816).
{ECO:0000269|PubMed:16122630}.
/FTId=VAR_064325.
VARIANT 1714 1714 M -> K (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073628.
VARIANT 1714 1714 M -> R (in EIEE6; dbSNP:rs121917949).
{ECO:0000269|PubMed:17054684,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064326.
VARIANT 1716 1716 C -> R (in EIEE6; dbSNP:rs121917926).
{ECO:0000269|PubMed:17561957}.
/FTId=VAR_064327.
VARIANT 1721 1721 T -> R (in EIEE6; dbSNP:rs121917978).
{ECO:0000269|PubMed:17347258}.
/FTId=VAR_064350.
VARIANT 1724 1724 A -> P (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073629.
VARIANT 1725 1725 G -> C (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073630.
VARIANT 1726 1726 W -> R (in EIEE6; dbSNP:rs121917979).
{ECO:0000269|PubMed:19589774}.
/FTId=VAR_064272.
VARIANT 1727 1727 D -> G (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073631.
VARIANT 1739 1739 P -> L (in GEFS+2).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073632.
VARIANT 1741 1741 C -> R (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073633.
VARIANT 1742 1742 D -> G (in GEFS+2; dbSNP:rs121918812).
{ECO:0000269|PubMed:15694566}.
/FTId=VAR_057998.
VARIANT 1749 1749 G -> E (in EIEE6; dbSNP:rs121918798).
{ECO:0000269|PubMed:12754708}.
/FTId=VAR_029718.
VARIANT 1756 1756 C -> G (in EIEE6; dbSNP:rs121918809).
{ECO:0000269|PubMed:19563458,
ECO:0000269|PubMed:20452746}.
/FTId=VAR_064273.
VARIANT 1762 1762 G -> E (in EIEE6; dbSNP:rs121917950).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064328.
VARIANT 1763 1763 I -> N (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073634.
VARIANT 1765 1765 F -> L (in GEFS+2; disease phenotype
consists of partial epilepsy with
antecedent febrile seizures and seizure
aggravation by antiepileptic drugs; loss-
of-function mutation resulting in
complete absence of sodium current).
{ECO:0000269|PubMed:20550552}.
/FTId=VAR_073635.
VARIANT 1766 1766 Missing (in EIEE6).
{ECO:0000269|PubMed:14738421,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029719.
VARIANT 1770 1770 I -> F (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073636.
VARIANT 1770 1770 I -> N (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073637.
VARIANT 1770 1770 I -> T (in EIEE6; borderline phenotype).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073638.
VARIANT 1771 1771 I -> F (in EIEE6; borderline phenotype;
also found in a patient with focal
epilepsy). {ECO:0000269|PubMed:18330841,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073639.
VARIANT 1771 1771 I -> N (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073640.
VARIANT 1773 1773 S -> F (in EIEE6; dbSNP:rs121917951).
{ECO:0000269|PubMed:17054684}.
/FTId=VAR_064329.
VARIANT 1780 1780 M -> T (in EIEE6; dbSNP:rs121917952).
{ECO:0000269|PubMed:12821740,
ECO:0000269|PubMed:17054684,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_029720.
VARIANT 1781 1781 Y -> C (in EIEE6 and ICEGTC;
dbSNP:rs121918779).
{ECO:0000269|PubMed:14738421,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_029721.
VARIANT 1781 1781 Y -> H (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073641.
VARIANT 1782 1782 I -> M (in EIEE6; dbSNP:rs121918763).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:20522430}.
/FTId=VAR_064274.
VARIANT 1782 1782 I -> S (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073642.
VARIANT 1783 1783 A -> T (in EIEE6; dbSNP:rs121917980).
{ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:19589774,
ECO:0000269|PubMed:20431604,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_064275.
VARIANT 1783 1783 A -> V (in EIEE6; dbSNP:rs121917921).
{ECO:0000269|PubMed:17561957,
ECO:0000269|PubMed:18930999,
ECO:0000269|PubMed:21248271,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_064345.
VARIANT 1787 1787 E -> K (in EIEE6; dbSNP:rs121917916).
{ECO:0000269|PubMed:17561957,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_064330.
VARIANT 1788 1788 N -> K (in EIEE6; unknown pathological
significance).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073643.
VARIANT 1792 1792 A -> T (in EIEE6).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073644.
VARIANT 1795 1795 E -> K (in GEFS+2; dbSNP:rs121918813).
{ECO:0000269|PubMed:20600615}.
/FTId=VAR_064276.
VARIANT 1807 1810 Missing (in EIEE6).
{ECO:0000269|PubMed:12566275}.
/FTId=VAR_029722.
VARIANT 1808 1808 F -> I (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073645.
VARIANT 1808 1808 F -> L (in ICEGTC; results in decreased
peak current density but significantly
greater levels of persistent non-
inactivating current compared to wild-
type channel; dbSNP:rs121918757).
{ECO:0000269|PubMed:12566275,
ECO:0000269|PubMed:16210358}.
/FTId=VAR_029723.
VARIANT 1812 1815 WEKF -> C (in EIEE6).
/FTId=VAR_029725.
VARIANT 1812 1812 W -> G (in EIEE6; dbSNP:rs121918751).
{ECO:0000269|PubMed:12566275}.
/FTId=VAR_029724.
VARIANT 1812 1812 W -> S (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073646.
VARIANT 1813 1815 Missing (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073647.
VARIANT 1831 1831 F -> S (in EIEE6; dbSNP:rs121918748).
{ECO:0000269|PubMed:12566275}.
/FTId=VAR_029726.
VARIANT 1832 1832 A -> P (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073648.
VARIANT 1835 1835 L -> F (in EIEE6).
{ECO:0000269|PubMed:18930999}.
/FTId=VAR_073649.
VARIANT 1852 1852 M -> K (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073650.
VARIANT 1852 1852 M -> T (in GEFS+2; loss of function;
defective trafficking to cell membrane
and no inhibition of its interaction with
SCN1B; dbSNP:rs121918783).
{ECO:0000269|PubMed:12919402,
ECO:0000269|PubMed:17928445}.
/FTId=VAR_029727.
VARIANT 1855 1855 P -> L (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073651.
VARIANT 1857 1857 V -> L (in GEFS+2; dbSNP:rs121918814).
{ECO:0000269|PubMed:15715999}.
/FTId=VAR_057999.
VARIANT 1861 1861 R -> W (in ICEGTC).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_073652.
VARIANT 1866 1866 D -> Y (in GEFS+2; causes a positive
shift in the voltage dependence of sodium
channel fast inactivation; causes an
increase in the magnitude of the
persistent current; causes delay in the
kinetics of inactivation and
significantly reduces interaction with
SCN1B; dbSNP:rs121918815).
{ECO:0000269|PubMed:15525788}.
/FTId=VAR_058000.
VARIANT 1867 1867 I -> T (in GEFS+2).
{ECO:0000269|PubMed:18251839,
ECO:0000269|PubMed:21248271}.
/FTId=VAR_073653.
VARIANT 1880 1880 G -> E (in EIEE6; dbSNP:rs201905405).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073654.
VARIANT 1881 1881 E -> D (in EIEE6; dbSNP:rs121918804).
{ECO:0000269|PubMed:14504318}.
/FTId=VAR_029728.
VARIANT 1909 1909 T -> I (in EIEE6; functional channel
displaying decreased peak current
densities but increased persistent
current; dbSNP:rs121918793).
{ECO:0000269|PubMed:12083760,
ECO:0000269|PubMed:17054685}.
/FTId=VAR_029729.
VARIANT 1909 1909 Missing (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073655.
VARIANT 1922 1922 I -> T (in EIEE6; dbSNP:rs121917981).
{ECO:0000269|PubMed:17347258}.
/FTId=VAR_064351.
VARIANT 1927 1927 R -> IIQ (in EIEE6).
{ECO:0000269|PubMed:21248271}.
/FTId=VAR_073656.
VARIANT 1928 1928 R -> G (in dbSNP:rs121917956).
{ECO:0000269|PubMed:11254444,
ECO:0000269|PubMed:18413471,
ECO:0000269|PubMed:18930999}.
/FTId=VAR_043371.
VARIANT 1955 1955 I -> T (in dbSNP:rs35735053).
{ECO:0000269|PubMed:12610651}.
/FTId=VAR_029730.
VARIANT 1957 1957 E -> G (in infantile spasms;
dbSNP:rs121918802).
{ECO:0000269|PubMed:14504318}.
/FTId=VAR_029731.
VARIANT 1977 1977 M -> L (found in a patient with febrile
seizures and non-specific acute
encephalopathy; unknown pathological
significance).
{ECO:0000269|PubMed:22309220}.
/FTId=VAR_075571.
VARIANT 1988 1988 R -> W (found in a patient with epilepsy-
aphasia and febrile seizures plus;
unknown pathological significance;
dbSNP:rs756519197).
{ECO:0000269|PubMed:23708187}.
/FTId=VAR_078611.
CONFLICT 670 670 E -> G (in Ref. 2; AAK00217).
{ECO:0000305}.
CONFLICT 746 746 L -> S (in Ref. 2; AAK00217).
{ECO:0000305}.
CONFLICT 930 930 P -> PQ (in Ref. 2; AAK00217).
{ECO:0000305}.
CONFLICT 1158 1161 DIGA -> GHRR (in Ref. 2; AAK00217).
{ECO:0000305}.
CONFLICT 1537 1537 F -> L (in Ref. 7; CAA46439/M91803).
{ECO:0000305}.
SEQUENCE 2009 AA; 228972 MW; 0593A6730F33C9A2 CRC64;
MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN
LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI
AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL
EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL
IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY
NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY
GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA
VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS
DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG
NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED
NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLVGGPSVP
TSPVGQLLPE VIIDKPATDD NGTTTETEMR KRRSSSFHVS MDFLEDPSQR QRAMSIASIL
TNTVEELEES RQKCPPCWYK FSNIFLIWDC SPYWLKVKHV VNLVVMDPFV DLAITICIVL
NTLFMAMEHY PMTDHFNNVL TVGNLVFTGI FTAEMFLKII AMDPYYYFQE GWNIFDGFIV
TLSLVELGLA NVEGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII
VFIFAVVGMQ LFGKSYKDCV CKIASDCQLP RWHMNDFFHS FLIVFRVLCG EWIETMWDCM
EVAGQAMCLT VFMMVMVIGN LVVLNLFLAL LLSSFSADNL AATDDDNEMN NLQIAVDRMH
KGVAYVKRKI YEFIQQSFIR KQKILDEIKP LDDLNNKKDS CMSNHTAEIG KDLDYLKDVN
GTTSGIGTGS SVEKYIIDES DYMSFINNPS LTVTVPIAVG ESDFENLNTE DFSSESDLEE
SKEKLNESSS SSEGSTVDIG APVEEQPVVE PEETLEPEAC FTEGCVQRFK CCQINVEEGR
GKQWWNLRRT CFRIVEHNWF ETFIVFMILL SSGALAFEDI YIDQRKTIKT MLEYADKVFT
YIFILEMLLK WVAYGYQTYF TNAWCWLDFL IVDVSLVSLT ANALGYSELG AIKSLRTLRA
LRPLRALSRF EGMRVVVNAL LGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKFYHCINTT
TGDRFDIEDV NNHTDCLKLI ERNETARWKN VKVNFDNVGF GYLSLLQVAT FKGWMDIMYA
AVDSRNVELQ PKYEESLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM
TEEQKKYYNA MKKLGSKKPQ KPIPRPGNKF QGMVFDFVTR QVFDISIMIL ICLNMVTMMV
ETDDQSEYVT TILSRINLVF IVLFTGECVL KLISLRHYYF TIGWNIFDFV VVILSIVGMF
LAELIEKYFV SPTLFRVIRL ARIGRILRLI KGAKGIRTLL FALMMSLPAL FNIGLLLFLV
MFIYAIFGMS NFAYVKREVG IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSKPPD
CDPNKVNPGS SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL
SEDDFEMFYE VWEKFDPDAT QFMEFEKLSQ FAAALEPPLN LPQPNKLQLI AMDLPMVSGD
RIHCLDILFA FTKRVLGESG EMDALRIQME ERFMASNPSK VSYQPITTTL KRKQEEVSAV
IIQRAYRRHL LKRTVKQASF TYNKNKIKGG ANLLIKEDMI IDRINENSIT EKTDLTMSTA
ACPPSYDRVT KPIVEKHEQE GKDEKAKGK


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