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Article

Clinical spectrum of episodic ataxia type 2.

Neurology - 13 Jan 2004

Jen J, Kim G W, Baloh R W

Abstract excerpt

The authors searched for mutations in CACNA1A in patients with episodic ataxia and describe the clinical spectrum in genetically defined patients. Eighteen families and nine sporadic cases of episodic ataxia were evaluated for mutations in CACNA1A. The families were first genotyped to check for l...

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Identifiers

PMID: 14718690
DOI: 10.1212/01.wnl.0000101675.61074.50

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14718690-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Clinical spectrum of episodic ataxia type 2.PMID 14718690Read ↗

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Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.Semantic proximity Read ↗

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The complexities of CACNA1A in clinical neurogenetics.Semantic proximity Read ↗

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