Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).

Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).

Gain-of function or dominant-negative mutations in the voltage-gated potassium channel KCNC3 (Kv3.3) were recently identified as a cause of autosomal dominant spinocerebellar ataxia. Our objective was to describe the frequency of mutations associated with KCNC3 in a large cohort of index patients wi...

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Bibliographic Details
Main Authors: Karla P Figueroa, Michael F Waters, Vartan Garibyan, Thomas D Bird, Christopher M Gomez, Laura P W Ranum, Natali A Minassian, Diane M Papazian, Stefan M Pulst
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-03-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3066194?pdf=render

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http://europepmc.org/articles/PMC3066194?pdf=render

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