Physiologic principles underlying ion channelopathies.
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.
Cannon
Stephen C
SC
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas 55390-8813, USA. steve.cannon@utsouthwestern.edu
D000818:Animals; D053447:Channelopathies / Q000503:physiopathology*; D006801:Humans; D015640:Ion Channel Gating / Q000502:physiology*; D007473:Ion Channels / Q000502:physiology*; D010827:Physiology
D007473:Ion Channels