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
Epilepsiajournal_title
Epilepsiaauthors
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 LMdoi
10.1111/epi.12323subject
Has Abstractpub_date
2013-09-01 00:00:00pages
e122-6issue
9eissn
0013-9580issn
1528-1167journal_volume
54pub_type
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