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Article

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.

BMC neurology - 26 Apr 2020

Nardello Rosaria, Plicato Giorgia, Mangano Giuseppe Donato, Gennaro Elena, Mangano Salvatore, Brighina Filippo, Raieli Vincenzo, Fontana Antonina

Abstract excerpt

BACKGROUND: To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant disorders: FHM1 (Familial Hemiplegic Migraine), EA2 (Episodic Ataxia type 2), and SCA6 (Spinocerebellar Ataxia type 6). Overlapping clinical features within...

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Source

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Identifiers

PMID: 32336275
DOI: 10.1186/s12883-020-01704-5
PMCID: PMC7183684

Provenance

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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