Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome
Date
2013
Authors
Mulley, J.
Hodgson, B.
McMahon, J.
Iona, X.
Bellows, S.
Mullen, S.
Farrell, K.
Mackay, M.
Sadleir, L.
Bleasel, A.
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Journal article
Citation
Epilepsia, 2013; 54(9):122-126
Statement of Responsibility
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, and Leanne M. Dibbens
Conference Name
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.
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Wiley Periodicals, Inc. © 2013 International League Against Epilepsy