The Genetics of Neuronal Channelopathies
Published Online: 16 JUL 2007
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Ma, S. and Gargus, J. J. 2007. The Genetics of Neuronal Channelopathies. eLS. .
- Published Online: 16 JUL 2007
A channelopathy is a new mechanism of disease involving dysfunction of ion pumps and channels. Monogenic forms of common neuronal disease phenotypes – such as seizures, ataxia and migraine – have been demonstrated to be produced by mutation of such genes. The mutation serves to produce a constitutionally hyperexcitable tissue that is susceptible to periodic decompensations recognized as disease. There are suggestions that similar mechanisms are at play in the common polygenic forms of these diseases, and that an understanding of these a etiological genes hold the potential to lead to new diagnostics and therapeutics.
- channelopathy (channel disease);
- ion channel;
- genetic disease;