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Article

Phenotypic variability in a four generation family with a p.Thr666Met CACNA1A gene mutation.

Pediatric neurology - 1 Oct 2014

García-Baró-Huarte María, Iglesias-Mohedano Ana María, Slöcker-Barrio María, Vázquez-López María, García-Morín Marina, Miranda-Herrero María Concepción, Castro-Castro Pedro

Abstract excerpt

BACKGROUND: Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 are distinct neurological disorders associated with mutations in the CACNA1A gene. Phenotypic variability and clinical overlap are recognized. PATIENTS: We describe a 2-year-old child with transiently decreased consciousness and clinical and radiological signs of early-onset cerebellar atrophy. The family...

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PMID: 25266619
DOI: 10.1016/j.pediatrneurol.2014.07.008

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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