Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Abstract:

:Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS(+) ) in multiplex families and accounts for 70-80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS(+) families could be explained by highly penetrant SCN9A mutations.

journal_name

Epilepsia

journal_title

Epilepsia

authors

Mulley JC,Hodgson B,McMahon JM,Iona X,Bellows S,Mullen SA,Farrell K,Mackay M,Sadleir L,Bleasel A,Gill D,Webster R,Wirrell EC,Harbord M,Sisodiya S,Andermann E,Kivity S,Berkovic SF,Scheffer IE,Dibbens LM

doi

10.1111/epi.12323

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

e122-6

issue

9

eissn

0013-9580

issn

1528-1167

journal_volume

54

pub_type

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