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Article

Sca13.

Cerebellum (London, England) - 1 Jan 2008

Waters M F, Pulst S M

Abstract excerpt

Spinocerebellar ataxia 13 (SCA13), initially described in a four-generation French family, has now also been characterized in a large Filipino pedigree. Ongoing investigations continue to identify additional SCA13 families and individuals. Recently, studies have shown that mutations in the voltage-gated potassium channel KCNC3 are causative for SCA13. Sequence analysis of KCNC3 revealed mutations 1554G-->A...

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Source

Identifiers

PMID: 18592334
DOI: 10.1007/s12311-008-0039-7

Genes

KCNC3

Variants

Provenance

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Sca13.PMID 18592334Read ↗

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

Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels.Semantic proximity Read ↗

Mutations in KCND3 cause spinocerebellar ataxia type 22.Semantic proximity Read ↗

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.Semantic proximity Read ↗

C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.Semantic proximity Read ↗

Spinocerebellar ataxia type 19: a series of patients from Latin America. Phenotypic spectrum from early-onset to late-onset slowly progressive ataxiaSemantic proximity Read ↗

A Novel Early Onset Spinocerebellar Ataxia 13 BAC Mouse Model with Cerebellar Hypoplasia, Tremor, and Ataxic GaitSemantic proximity Read ↗

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.Semantic proximity Read ↗

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

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

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