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Neurological diseases caused by ion-channel mutations

Item Type:Review
Title:Neurological diseases caused by ion-channel mutations
Creators Name:Weinreich, F. and Jentsch, T.J.
Abstract:During the past decade, mutations in several ion-channel genes have been shown to cause inherited neurological diseases. This is not surprising given the large number of different ion channels and their prominent role in signal processing. Biophysical studies of mutant ion channels in vitro allow detailed investigations of the basic mechanism underlying these 'channelopathies'. A full understanding of these diseases, however, requires knowing the roles these channels play in their cellular and systemic context. Differences in this context often cause different phenotypes in humans and mice. The situation is further complicated by the developmental effects and other secondary effects that might result from ion-channel mutations. Recent studies have described the different thresholds to which ion-channel function must be decreased in order to cause disease.
Keywords:Ion Channels, Mutation, Nervous System Diseases, Animals, Mice
Source:Current Opinion in Neurobiology
ISSN:0959-4388
Publisher:Current Biology (U.K.)
Volume:10
Number:3
Page Range:409-415
Date:June 2000
Official Publication:https://doi.org/10.1016/S0959-4388(00)00089-1
PubMed:View item in PubMed

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