From mutation to myotonia in sodium channel disorders

Stephen C. Cannon

Research output: Contribution to journalArticle

65 Citations (Scopus)

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 1997

Fingerprint

Myotonia
Sodium Channels
Hyperkalemic Periodic Paralysis
Myotonic Disorders
Mutation
Genetic Association Studies
Point Mutation
Paralysis
Potassium
Skeletal Muscle
Potassium aggravated myotonia
In Vitro Techniques

Keywords

  • Periodic paralysis
  • Skeletal muscle
  • SkM1

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

From mutation to myotonia in sodium channel disorders. / Cannon, Stephen C.

In: Neuromuscular Disorders, Vol. 7, No. 4, 06.1997, p. 241-249.

Research output: Contribution to journalArticle

Cannon, Stephen C. / From mutation to myotonia in sodium channel disorders. In: Neuromuscular Disorders. 1997 ; Vol. 7, No. 4. pp. 241-249.
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