Sodium channel mutations in epilepsy and other neurological disorders

Miriam H. Meisler*, Jennifer A. Kearney

*Corresponding author for this work

Research output: Contribution to journalReview article

354 Scopus citations

Abstract

Since the first mutations of the neuronal sodium channel SCNlA were identified S years ago, more than ISO mutations have been described in patients with epilepsy. Many are sporadic mutations and cause loss of function, which demonstrates haploinsufficiency of SCN1A. Mutations resulting in persistent sodium current are also common. Coding variants of SCN2A, SCN8A, and SCN9A have also been identified in patients with seizures, ataxia, and sensitivity to pain, respectively. The rapid pace of discoveries suggests that sodium channel mutations are significant factors in the etiology of neurological disease and may contribute to psychiatric disorders as well.

Original languageEnglish (US)
Pages (from-to)2010-2017
Number of pages8
JournalJournal of Clinical Investigation
Volume115
Issue number8
DOIs
StatePublished - Aug 1 2005

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ASJC Scopus subject areas

  • Medicine(all)

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