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Article

Missense CACNA1A mutation causing episodic ataxia type 2.

Archives of neurology - 1 Feb 2001

Denier C, Ducros A, Durr A, Eymard B, Chassande B, Tournier-Lasserve E

Abstract excerpt

OBJECTIVES: To characterize the nature of CACNA1A mutation in a previously unreported family with episodic ataxia type 2 (EA2) and to better delineate EA2 clinical features. BACKGROUND: Episodic ataxia type 2 is an autosomal dominant disorder characterized by the recurrence of acetazolamide-responsive spells of cerebellar ataxia, usually starting during childhood or adolescence. The mutated gene, CACNA1A, is...

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Identifiers

PMID: 11176968
DOI: 10.1001/archneur.58.2.292

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.

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