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Article

Spinocerebellar ataxia type 6 and episodic ataxia type 2 in a Korean family.

Journal of Korean medical science - 1 Dec 2001

Koh S H, Kim H T, Kim S H, Lee G Y, Kim J, Kim M H

Abstract excerpt

Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine (FHM) have been known as allelic disorders, which are caused by the alteration of the alpha1A voltage-dependent calcium channel subunit. Expansions of the CAG repeat in the CACNA1A gene on the short arm of the chromosome 19 induce SCA6, and point mutations in the same gene are responsible for EA2 and FHM. In recent...

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Identifiers

PMID: 11748369
DOI: 10.3346/jkms.2001.16.6.809
PMCID: PMC3054805

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

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