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

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, Leanne M. Dibbens

Research output: Contribution to journalArticle

34 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)e122-e126
JournalEpilepsia
Volume54
Issue number9
DOIs
StatePublished - Sep 1 2013

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Keywords

  • Clinical heterogeneity
  • Dravet syndrome
  • Febrile seizures
  • Genetic epilepsy with febrile seizures plus
  • Genetic modifier
  • Genetic susceptibility
  • SCN1A
  • SCN9A
  • Susceptibility gene

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Mulley, J. C., Hodgson, B., McMahon, J. M., Iona, X., Bellows, S., Mullen, S. A., Farrell, K., Mackay, M., Sadleir, L., Bleasel, A., Gill, D., Webster, R., Wirrell, E. C., Harbord, M., Sisodiya, S., Andermann, E., Kivity, S., Berkovic, S. F., Scheffer, I. E., & Dibbens, L. M. (2013). Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. Epilepsia, 54(9), e122-e126. https://doi.org/10.1111/epi.12323