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

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dc.contributor.authorMulley, J.
dc.contributor.authorHodgson, B.
dc.contributor.authorMcMahon, J.
dc.contributor.authorIona, X.
dc.contributor.authorBellows, S.
dc.contributor.authorMullen, S.
dc.contributor.authorFarrell, K.
dc.contributor.authorMackay, M.
dc.contributor.authorSadleir, L.
dc.contributor.authorBleasel, A.
dc.contributor.authorGill, D.
dc.contributor.authorWebster, R.
dc.contributor.authorWirrell, E.
dc.contributor.authorHarbord, M.
dc.contributor.authorSisodiya, S.
dc.contributor.authorAndermann, E.
dc.contributor.authorKivity, S.
dc.contributor.authorBerkovic, S.
dc.contributor.authorScheffer, I.
dc.contributor.authorDibbens, L.
dc.date.issued2013
dc.description.abstractMutations 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.
dc.description.statementofresponsibilityJohn 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
dc.identifier.citationEpilepsia, 2013; 54(9):122-126
dc.identifier.doi10.1111/epi.12323
dc.identifier.issn0013-9580
dc.identifier.issn1528-1167
dc.identifier.urihttp://hdl.handle.net/2440/81320
dc.language.isoen
dc.publisherBlackwell Publishing Inc
dc.rightsWiley Periodicals, Inc. © 2013 International League Against Epilepsy
dc.source.urihttps://doi.org/10.1111/epi.12323
dc.subjectClinical heterogeneity
dc.subjectGenetic modifier
dc.subjectGenetic susceptibility
dc.subjectDravet syndrome
dc.subjectFebrile seizures
dc.subjectGenetic epilepsy with febrile seizures plus
dc.subjectSCN1A
dc.subjectSCN9A
dc.subjectSusceptibility gene
dc.titleRole of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome
dc.typeJournal article
pubs.publication-statusPublished

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