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Article

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

Human mutation - 1 Feb 2010

Figueroa Karla P, Minassian Natali A, Stevanin Giovanni, Waters Michael, Garibyan Vartan, Forlani Sylvie, Strzelczyk Adam, Bürk Katrin, Brice Alexis, Dürr Alexandra, Papazian Diane M, Pulst Stefan M

Abstract excerpt

We recently identified KCNC3, encoding the Kv3.3 voltage-gated potassium channel, as the gene mutated in SCA13. One g.10684G>A (p.Arg420His) mutation caused late-onset ataxia resulting in a nonfunctional channel subunit with dominant-negative properties. A French early-onset pedigree with mild me...

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Source

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Identifiers

PMID: 19953606
DOI: 10.1002/humu.21165
PMCID: PMC2814913

Genes

KCNC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19953606-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.PMID 19953606Read ↗

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