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Article

Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

Archives of neurology - 1 Feb 2005

Spacey Sian D, Materek Luke A, Szczygielski Blajez I, Bird Thomas D

Abstract excerpt

BACKGROUND: Episodic ataxia type 2 (EA2) is an autosomal dominant condition that results from mutations in the CACNA1A gene. It is characterized by episodes of ataxia and nystagmus that typically last hours. OBJECTIVE: To describe the clinical and genetic features of 2 unrelated patients who developed EA2 in childhood and late-onset dystonia. DESIGN: Pedigree study. SETTING: University academic teaching hospital....

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Identifiers

PMID: 15710862
DOI: 10.1001/archneur.62.2.314

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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