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Pubmed ID :26900580
Publication Date : //

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.


The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage-gated sodium channel Nav1.6. More than 20% of patients have recurrent mutations in residues Arg1617 or Arg1872. Our goal was to determine the functional effects of these mutations on channel properties.

Authors : Wagnon Jacy L , Barker Bryan S , Hounshell James A , Haaxma Charlotte A , Shealy Amy , Moss Timothy , Parikh Sumit , Messer Ricka D , Patel Manoj K , Meisler Miriam H ,

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