Article Text

Download PDFPDF
Channelopathies: ion channel defects linked to heritable clinical disorders
  1. Ricardo Felix
  1. Department of Physiology, Biophysics, and Neuroscience, Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav-IPN), Mexico
  1. Dr Felix, Departmento de Fisiología Biofísica y Neurociencias, Cinvestav-IPN, Avenida IPN 2508, Colonia Zacatenco, México DF, CP 07000, rfelix{at}


Electrical signals are critical for the function of neurones, muscle cells, and cardiac myocytes. Proteins that regulate electrical signalling in these cells, including voltage gated ion channels, are logical sites where abnormality might lead to disease. Genetic and biophysical approaches are being used to show that several disorders result from mutations in voltage gated ion channels. Understanding gained from early studies on the pathogenesis of a group of muscle diseases that are similar in their episodic nature (periodic paralysis) showed that these disorders result from mutations in a gene encoding a voltage gated Na+ channel. Their characterisation as channelopathies has served as a paradigm for other episodic disorders. For example, migraine headache and some forms of epilepsy have been shown to result from mutations in voltage gated Ca2+channel genes, while long QT syndrome is known to result from mutations in either K+ or Na+ channel genes. This article reviews progress made in the complementary fields of molecular genetics and cellular electrophysiology which has led to a better understanding of voltage gated ion channelopathies in humans and mice.

  • ion channel genetics
  • ion channel physiopathology
  • channelopathies
  • hereditary diseases

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.