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Article

Novel splice site CACNA1A mutation causing episodic ataxia type 2.

Neurogenetics - 1 Feb 2004

Kaunisto M A, Harno H, Kallela M, Somer H, Sallinen R, Hämäläinen E, Miettinen P J, Vesa J, Orpana A, Palotie A, Färkkilä M, Wessman M

Abstract excerpt

Episodic ataxia type 2 (EA-2) is an autosomal dominant neurological disorder, characterized by episodes of ataxia, vertigo, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness. The disease is caused by mutations in the P/Q-type calcium channel Ca(v)2.1 subunit gene, CACNA1A, located on chromosome 19p13.2. We analyzed a family with 13 affected individuals for linkage to this locus and...

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PMID: 14530926
DOI: 10.1007/s10048-003-0161-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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