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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Publicado en:PLoS One
Autores principales: Duarri, Anna, Nibbeling, Esther A. R., Fokkens, Michiel R., Meijer, Michel, Boerrigter, Melissa, Verschuuren-Bemelmans, Corien C., Kremer, Berry P. H., van de Warrenburg, Bart P., Dooijes, Dennis, Boddeke, Erik, Sinke, Richard J., Verbeek, Dineke S.
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4355074/
https://ncbi.nlm.nih.gov/pubmed/25756792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0116599
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