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Type: Journal article
Title: Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome
Author: Mulley, J.
Hodgson, B.
McMahon, J.
Iona, X.
Bellows, S.
Mullen, S.
Farrell, K.
Mackay, M.
Sadleir, L.
Bleasel, A.
Gill, D.
Webster, R.
Wirrell, E.
Harbord, M.
Sisodiya, S.
Andermann, E.
Kivity, S.
Berkovic, S.
Scheffer, I.
Dibbens, L.
Citation: Epilepsia, 2013; 54(9):122-126
Publisher: Blackwell Publishing Inc
Issue Date: 2013
ISSN: 0013-9580
Statement of
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
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.
Keywords: Clinical heterogeneity
Genetic modifier
Genetic susceptibility
Dravet syndrome
Febrile seizures
Genetic epilepsy with febrile seizures plus
Susceptibility gene
Rights: Wiley Periodicals, Inc. © 2013 International League Against Epilepsy
DOI: 10.1111/epi.12323
Appears in Collections:Aurora harvest 4
Paediatrics publications

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