Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominantly inherited neurodegenerative disorder of the cerebellum caused by mutations in the voltage gated potassium channel KCNC3. To identify novel pathogenic SCA13 mutations in KCNC3 and to gain insights into the disease prevalence in the Net...

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Bibliographic Details
Main Authors: Anna Duarri, Esther A R Nibbeling, Michiel R Fokkens, Michel Meijer, Melissa Boerrigter, Corien C Verschuuren-Bemelmans, Berry P H Kremer, Bart P van de Warrenburg, Dennis Dooijes, Erik Boddeke, Richard J Sinke, Dineke S Verbeek
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4355074?pdf=render

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http://europepmc.org/articles/PMC4355074?pdf=render

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