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

JC Mulley, Bree Hodgson, Jacinta McMahon, Xenia Iona, Susannah Bellows, Saul Mullen, Kevin Farrell, Mark MacKay, Lynette Sadleir, Andrew Bleasel, Deepak Gill, Richard Webster, Elaine Wirrell, Michael Harbord, Sanjay Sisodiya, Eva Andermann, Sara Kivity, Samuel Berkovic, Ingrid Scheffer, Leanne Dibbens

    Research output: Contribution to journalArticle

    38 Citations (Scopus)

    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
    Pages (from-to)e122-e126
    Number of pages5
    JournalEpilepsia
    Volume54
    Issue number9
    DOIs
    Publication statusPublished - Sep 2013

    Keywords

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

    Fingerprint Dive into the research topics of 'Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome'. Together they form a unique fingerprint.

  • Cite this

    Mulley, JC., 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. (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