Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

BACKGROUND: 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...

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Auteurs principaux: Figueroa, Karla P., Waters, Michael F., Garibyan, Vartan, Bird, Thomas D., Gomez, Christopher M., Ranum, Laura P. W., Minassian, Natali A., Papazian, Diane M., Pulst, Stefan M.
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2011
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3066194/
https://ncbi.nlm.nih.gov/pubmed/21479265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0017811
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