From mutation to myotonia in sodium channel disorders

Stephen C. Cannon

Research output: Contribution to journalArticle

65 Scopus citations

Abstract

Hyperkalemic periodic paralysis, paramyotonia congenita, and the potassium-aggravated myotonias are all caused by point mutations in the α-subunit of a sodium channel expressed selectively in skeletal muscle. This review updates the growing list of genotype-phenotype correlations for these mutations and summarizes the alterations in channel function they produce. A toxin-based in vitro model demonstrates that subtle defects in sodium channel inactivation are sufficient to cause myotonia and computer modeling suggests that specific types of inactivation defect may predispose to paralysis or myotonia.

Original languageEnglish (US)
Pages (from-to)241-249
Number of pages9
JournalNeuromuscular Disorders
Volume7
Issue number4
DOIs
StatePublished - Jun 1 1997

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Keywords

  • Periodic paralysis
  • SkM1
  • Skeletal muscle

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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