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

journal contribution
posted on 2013-09-01, 00:00 authored by John C Mulley, Bree Hodgson, Jacinta M McMahon, Xenia Iona, Susannah Bellows, Saul A Mullen, Kevin Farrell, Mark Mackay, Lynette Sadleir, Andrew Bleasel, Deepak Gill, Richard Webster, Elaine C Wirrell, Michael Harbord, Sanyjay Sisodiya, Eva Andermann, Sara Kivity, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibbens
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.

History

Journal

Epilepsia

Volume

54

Issue

9

Pagination

e122 - e126

Publisher

Wiley

Location

Chichester, Eng.

ISSN

0013-9580

eISSN

1528-1167

Language

eng

Publication classification

C1.1 Refereed article in a scholarly journal

Copyright notice

2013, International League Against Epilepsy