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Article

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

PloS one - 1 Jan 2015

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

Abstract excerpt

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 Netherlands, we sequenced the entire coding region of KCNC3 in 848 Dutch cerebellar ataxia patients with familial or...

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PMID: 25756792
DOI: 10.1371/journal.pone.0116599
PMCID: PMC4355074

Genes

KCNC3

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Research trail→

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Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.PMID 25756792Read ↗

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.Semantic proximity Read ↗

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KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.Semantic proximity Read ↗

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First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsySemantic proximity Read ↗

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.Semantic proximity Read ↗

Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene.Semantic proximity Read ↗

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Epilepsy as the Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 GeneSemantic proximity Read ↗

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