Channelopathies of the nervous system

Stephen C. Cannon

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Ion channels are integral membrane proteins that form water-filled pores and allow the rapid passage of ions across cell membranes. The importance of ion-channel function in health and disease states has long been recognized, particularly in medical therapeutics. Many drugs act directly on ion channels, including local anesthetic agents, antiarrhythmics, antihypertensives, most antiepileptic drugs, and many psychoactive medications. Mutations of ion-channel genes have been established as the cause of several human diseases, including more than 30 disorders affecting excitability in nerve, muscle, or special sensory organs and disorders of epithelial transport affecting kidney, lung, or gut.

Original languageEnglish (US)
Title of host publicationPrinciples of Molecular Medicine
PublisherHumana Press
Pages1088-1096
Number of pages9
ISBN (Print)9781588292025
DOIs
StatePublished - 2006

Keywords

  • Channelopathies
  • episodic ataxia
  • gating
  • hyperekplexia
  • hypokalemic periodic paralysis
  • idiopathic generalized epilepsy
  • ion channels
  • myotonia congenita
  • nervous system
  • permeation
  • skeletal muscle

ASJC Scopus subject areas

  • General Medicine

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