Physiologic Principles Underlying Ion Channelopathies

Stephen C. Cannon

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

The ion channelopathies are a diverse array of human disorders caused by mutations in genes coding for ion channels. More than 40 different channelopathies have been identified, with representative disorders from every major class of ion channel and affecting all electrically excitable tissues: brain, peripheral nerve, skeletal muscle, smooth muscle, and heart. This review provides an overview of ion channel classification, structure, and function as a framework for understanding which ion channel properties are altered by disease-associated mutations and how these changes disrupt cellular excitability for channelopathies affecting skeletal muscle and the CNS.

Original languageEnglish (US)
Pages (from-to)174-183
Number of pages10
JournalNeurotherapeutics
Volume4
Issue number2
DOIs
Publication statusPublished - Apr 2007

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Keywords

  • brain
  • Channel mutation
  • electrophysiology
  • skeletal muscle

ASJC Scopus subject areas

  • Pharmacology (medical)
  • Clinical Neurology
  • Pharmacology

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