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Article

Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.

Eye (London, England) - 1 Dec 2009

Self J, Mercer C, Boon E M J, Murugavel M, Shawkat F, Hammans S, Hodgkins P, Griffiths H, Lotery A

Abstract excerpt

PURPOSE: Mutations in the 1A-subunit of the brain P/Q-type calcium channel gene CACNA1A are responsible for spinocerebellar ataxia type 6 (SCA6), familial haemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). Considerable clinical and genetic overlap exists between these 3 allelic disorders. Clinical findings are varied and may include nystagmus. OBJECTIVE: To study the clinical phenotype and identify a...

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Identifiers

PMID: 19182766
DOI: 10.1038/eye.2008.389

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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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