Voltage-gated ion channelopathies of the nervous system

Stephen C. Cannon

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Mutations in genes coding for voltage-gated ion channels cause a diverse group of disorders affecting heart, skeletal muscle, and brain. Mutant channels alter the electrical excitability of cells, which increases the susceptibility to paroxysmal symptoms including cardiac arrhythmia, periodic paralysis, myotonia, seizures, migraine headache, and episodic ataxia. This review provides an update on the genetics and physiology of diseases of skeletal muscle and brain caused by mutations in voltage-gated in ion channel genes. The discovery of specific ion channel defects provides a rational basis for designing pharmacological intervention, as ion channels are the molecular targets of many drugs in clinical use. Moreover, the advent of a molecular genetic-based diagnosis provides an important tool for clarifying the natural history and effectiveness of intervention in these disorders.

Original languageEnglish (US)
Pages (from-to)104-117
Number of pages14
JournalClinical Neuroscience Research
Volume1
Issue number1-2
StatePublished - 2001

Fingerprint

Channelopathies
Ion Channels
Nervous System
Ions
Skeletal Muscle
Myotonia
Mutation
Inborn Genetic Diseases
Brain
Natural History
Migraine Disorders
Paralysis
Genes
Cardiac Arrhythmias
Molecular Biology
Myocardium
Seizures
Pharmacology
Pharmaceutical Preparations

Keywords

  • Epilepsy
  • Headache
  • Ion channel
  • Myotonia
  • Periodic paralysis

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Biological Psychiatry
  • Neurology
  • Neuropsychology and Physiological Psychology

Cite this

Voltage-gated ion channelopathies of the nervous system. / Cannon, Stephen C.

In: Clinical Neuroscience Research, Vol. 1, No. 1-2, 2001, p. 104-117.

Research output: Contribution to journalArticle

Cannon, Stephen C. / Voltage-gated ion channelopathies of the nervous system. In: Clinical Neuroscience Research. 2001 ; Vol. 1, No. 1-2. pp. 104-117.
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