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Article

The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.

European journal of neurology - 1 Jan 2019

Indelicato E, Nachbauer W, Karner E, Eigentler A, Wagner M, Unterberger I, Poewe W, Delazer M, Boesch S

Abstract excerpt

BACKGROUND AND PURPOSE: CACNA1A encodes the α1 subunit of the neuronal calcium channel P/Q. CACNA1A mutations underlie three allelic disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). A clear-cut genotype-phenotype correlation is often lacking since clinical manifestations may overlap. Several case reports have described cognitive and...

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PMID: 30063100
DOI: 10.1111/ene.13765

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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