Pathomechanisms in channelopathies of skeletal muscle and brain

Stephen C. Cannon

Research output: Contribution to journalArticle

163 Scopus citations

Abstract

Ion channelopathies are a diverse array of human disorders caused by mutations in ion channel genes. This review focuses on the pathogenic mechanisms of channelopathies affecting skeletal muscle and brain arising from mutations of voltage-gated ion channels and fast ligand-gated ion channels expressed at the surface membrane. Derangements in channel function alter the electrical excitability of the cell and thereby increase susceptibility to transient symptomatic attacks including myasthenia, periodic paralysis, myotonic stiffness, seizures, headache, dyskinesia, or episodic ataxia. Although these disorders are rare, they stand out as exemplary cases for which disease pathogenesis can be traced from a point mutation to altered protein function, to altered cellular activity, and to clinical phenotype. The study of these disorders has provided insights on channel structure-function relations, the physiological roles of ion channels, and rational approaches toward therapeutic intervention for many disorders of cellular excitability.

Original languageEnglish (US)
Pages (from-to)387-415
Number of pages29
JournalAnnual Review of Neuroscience
Volume29
DOIs
StatePublished - 2006

Keywords

  • Epilepsy
  • Episodic ataxia
  • Ion channel
  • Mutation
  • Myotonia
  • Periodic paralysis

ASJC Scopus subject areas

  • Neuroscience(all)

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