Referenced in: none

Automatically associated channels: Cav2.1

Title: The inherited episodic ataxias: how well do we understand the disease mechanisms?

Authors: D M Kullmann, R Rea, A Spauschus, A Jouvenceau

Journal, date & volume: , 2001 Feb , 7, 80-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11486347

Abstract
The past few years have seen the elucidation of several neurological diseases caused by inherited mutations of ion channels. In contrast to many other types of genetic disorders, the "channelopathies" can be studied with high precision by applying electrophysiological methods. This review evaluates the success of this approach in explaining the mechanisms of two forms of episodic ataxia that are known to be caused by mutations of ion channels: episodic ataxia type 1 (EA1, caused by K+ channel mutations) and episodic ataxia type 2 (EA2, caused by Ca2+ channel mutations). Although both of these disorders are rare, they raise many important questions about the roles of identified channels in brain function. Indeed, a resolution of the mechanisms by which both diseases occur will represent a major milestone in understanding diseases of the CNS, in addition to opening the way to novel possible treatments.