Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Pubmed ID :19710327
Publication Date : //

A functional null mutation of SCN1B in a patient with Dravet syndrome.


Dravet syndrome (also called severe myoclonic epilepsy of infancy) is one of the most severe forms of childhood epilepsy. Most patients have heterozygous mutations in SCN1A, encoding voltage-gated sodium channel Na(v)1.1 alpha subunits. Sodium channels are modulated by beta1 subunits, encoded by SCN1B, a gene also linked to epilepsy. Here we report the first patient with Dravet syndrome associated with a recessive mutation in SCN1B (p.R125C). Biochemical characterization of p.R125C in a heterologous system demonstrated little to no cell surface expression despite normal total cellular expression. This occurred regardless of coexpression of Na(v)1.1 alpha subunits. Because the patient was homozygous for the mutation, these data suggest a functional SCN1B null phenotype. To understand the consequences of the lack of beta1 cell surface expression in vivo, hippocampal slice recordings were performed in Scn1b(-/-) versus Scn1b(+/+) mice. Scn1b(-/-) CA3 neurons fired evoked action potentials with a significantly higher peak voltage and significantly greater amplitude compared with wild type. However, in contrast to the Scn1a(+/-) model of Dravet syndrome, we found no measurable differences in sodium current density in acutely dissociated CA3 hippocampal neurons. Whereas Scn1b(-/-) mice seize spontaneously, the seizure susceptibility of Scn1b(+/-) mice was similar to wild type, suggesting that, like the parents of this patient, one functional SCN1B allele is sufficient for normal control of electrical excitability. We conclude that SCN1B p.R125C is an autosomal recessive cause of Dravet syndrome through functional gene inactivation.

Authors : Patino Gustavo A , Claes Lieve R F , Lopez-Santiago Luis F , Slat Emily A , Dondeti Raja S R , Chen Chunling , O'Malley Heather A , Gray Charles B B , Miyazaki Haruko , Nukina Nobuyuki , Oyama Fumitaka , De Jonghe Peter , Isom Lori L ,

Related products :

Catalog number Product name Quantity
AVP-Null-PBS CMV-Null control Adenovirus, in vivo ready 1x1010 IFU/ml x 200ul
MIR-NULL-GP miRNASelect™ pEGP-miR Null Control Vector 100
MIR-NULL-GP miRNASelect™ pEGP-miR Null Control Vector 100
MIR-NULL miRNASelect™ pEP_miR Null Control Vector 100 µL
MIR-NULL-GP miRNASelect™ pEGP_miR Null Control Vector 100 µL
SCN1B SCN1B Gene sodium channel, voltage-gated, type I, beta
LVP-LocLight-Null LocLight Null Control lentiviral particles: Pre-made negative control LocLight lentiviral particles, provided in DMEM medium with 10 percent FBS and 60ug_ml of polybrene. It is Null virus, does not 1x107 IFU/ml x 200ul
MIR-NULL miRNASelect™ pEP-miR Null Control Vector 100
MIR-NULL miRNASelect™ pEP-miR Null Control Vector 100
SL100717 Viruses: Adenovirus null, GFP tag, Ad-Syn-Null-GFP 1E+10~1E+11 (PFU/ml)
SL100705 Viruses: Adenovirus null, Ad-Null 1E+10~1E+11 (PFU/ml)
PA1244 Polyclonal Anti-SCN1B, Ig type: rabbit IgG, Specificity: H;M;R. No cross reactivity with other proteins. , Immunogen: A synthetic peptide corresponding to a sequence at the N-terminal of human SCN1B, 100μg/vial
AVP-Null CMV-Null control Adenovirus 1x108 IFU/ml x 200ul
SL100717 Ad-Syn-Null-GFP Adenovirus null, GFP tag 0.2 ML
SL100705 Ad-Null Adenovirus null 0.2 ML
LF-PA50147 anti-SCN1B , Rabbit polyclonal to SCN1B , Isotype IgG, Host Rabbit 200 ul
MCA1448 RAT ANTI PIG SWC6 NULL CELLS, Product Type Monoclonal Antibody, Specificity SWC6 NULL CELLS, Target Species Pig, Host Rat, Format S_N, Isotypes IgG2a, Applications C, E, F, IP, P, Clone MAC320 2 ml
SCH-MCA1448 RAT ANTI PIG SWC6 NULL CELLS, Product Type Monoclonal Antibody, Specificity SWC6 NULL CELLS, Target Species Pig, Host Rat, Format S_N, Isotypes IgG2a, Applications C, E, F, IP, P, Clone MAC320 2 ml
CMV-Null-RP CMV Control lentiviral particles (RFP-Puro): Negative control lentivirus contains a null spacer insert under CMV promoter, serves as the negative control of lentivurs treatment for the specificity of 1 x107 IFU/ml x 200ul
CMV-Null-GP CMV Control lentiviral particles (GFP-Puro): Negative control lentivirus contains a null spacer insert under CMV promoter, serves as the negative control of lentivurs treatment for the specificity of 1 x107 IFU/ml x 200ul
CMV-Null-Bsd CMV Control lentiviral particles (Bsd): Negative control lentivirus contains a null spacer insert under CMV promoter, serves as the negative control of lentivurs treatment for the specificity of any 1 x107 IFU/ml x 200ul
CMV-Null-Neo CMV Control lentiviral particles (Neo): Negative control lentivirus contains a null spacer insert under CMV promoter, serves as the negative control of lentivurs treatment for the specificity of any 1 x107 IFU/ml x 200ul
CMV-Null-GB CMV Control lentiviral particles (GFP-Bsd): Negative control lentivirus contains a null spacer insert under CMV promoter, serves as the negative control of lentivurs treatment for the specificity of 1 x107 IFU/ml x 200ul
CMV-Null-RB CMV Control lentiviral particles (RFP-Bsd): Negative control lentivirus contains a null spacer insert under CMV promoter, serves as the negative control of lentivurs treatment for the specificity of 1 x107 IFU/ml x 200ul
orb81454 Human Ubiquitin Lys 48 to Arg 48 mutation protein Recombinant human ubiquitin featuring Lys 48 to Arg48 mutation is useful for the reduction of poly-Ub chain length and conjugation rates.Ubiquitin K48 5


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur