Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. Issue 9 (29th July 2013)

• Record Type: Journal Article
• Authors: Mulley, John C.; Hodgson, Bree; McMahon, Jacinta M.; Iona, Xenia; Bellows, Susannah; Mullen, Saul A; Farrell, Kevin; Mackay, Mark; Sadleir, Lynette; Bleasel, Andrew; Gill, Deepak; Webster, Richard; Wirrell, Elaine C.; Harbord, Michael; Sisodiya, Sanyjay; Andermann, Eva; Kivity, Sara; Berkovic, Samuel F.; Scheffer, Ingrid E.; Dibbens, Leanne M.
• Is Part Of: Epilepsia. Volume 54:Issue 9(2013:Sep.)
• Page Start: e122
• Page End: e126
• Publication Date: 2013-07-29
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1111/epi.12323
• Languages: English
• ISSNs: 0013-9580

Abstract

<abstract abstract-type="main" id="epi12323-abs-0001"> <title>Summary</title> <p>Mutations of the <italic>SCN1A</italic> 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 <italic>SCN1A</italic> mutation inherited have predicted <italic>SCN9A</italic> susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare <italic>SCN9A</italic> genetic variants. None of the multiplex febrile seizure or GEFS⁺ families could be explained by highly penetrant <italic>SCN9A</italic> mutations.</p> </abstract>