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Article

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

Annals of neurology - 1 Dec 2012

Duarri Anna, Jezierska Justyna, Fokkens Michiel, Meijer Michel, Schelhaas Helenius J, den Dunnen Wilfred F A, van Dijk Freerk, Verschuuren-Bemelmans Corien, Hageman Gerard, van de Vlies Pieter, Küsters Benno, van de Warrenburg Bart P, Kremer Berry, Wijmenga Cisca, Sinke Richard J, Swertz Morris A, Kampinga Harm H, Boddeke Erik, Verbeek Dineke S

Abstract excerpt

OBJECTIVE: To identify the causative gene for the neurodegenerative disorder spinocerebellar ataxia type 19 (SCA19) located on chromosomal region 1p21-q21. METHODS: Exome sequencing was used to identify the causal mutation in a large SCA19 family. We then screened 230 ataxia families for mutations located in the same gene (KCND3, also known as Kv4.3) using high-resolution melting. SCA19 brain autopsy material was...

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Identifiers

PMID: 23280838
DOI: 10.1002/ana.23700

Genes

KCND3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.PMID 23280838Read ↗

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