A novel muscle sodium channel mutation causes painful congenital myotonia

Jeffrey Rosenfeld*, Karen Sloan-Brown, Alfred L. George

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

67 Scopus citations

Abstract

Mutations in the skeletal muscle voltage-gated sodium channel α- subunit gene (SCN4A) have been associated with a spectrum of inherited nondystrophic myotonias and periodic paralyses. Most disease-associated SCN4A alleles occur in portions of the gene that encode the third and fourth repeat domains with the conspicuous absence of mutations in domain 1. Here we describe a family segregating an unusual autosomal dominant congenital myotonia associated with debilitating pain especially severe in the intercostal muscles. A novel SCN4A mutation causing the replacement of Val445 in the sixth transmembrane segment of domain 1 with methionine was discovered in all affected individuals and is the likely genetic basis for the syndrome. Myotonia was resistant to treatment; however, the most severely affected family member responded dramatically to the sodium channel blocking agent flecainide.

Original languageEnglish (US)
Pages (from-to)811-814
Number of pages4
JournalAnnals of neurology
Volume42
Issue number5
DOIs
StatePublished - Nov 1 1997

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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