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Article

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.

Journal of the neurological sciences - 15 Jul 2014

García Segarra Nuria, Gautschi Ivan, Mittaz-Crettol Laureane, Kallay Zetchi Christine, Al-Qusairi Lama, Van Bemmelen Miguel Xavier, Maeder Philippe, Bonafé Luisa, Schild Laurent, Roulet-Perez Eliane

Abstract excerpt

Mutations in the CACNA1A gene, encoding the α1 subunit of the voltage-gated calcium channel Ca(V)2.1 (P/Q-type), have been associated with three neurological phenotypes: familial and sporadic hemiplegic migraine type 1 (FHM1, SHM1), episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 (SCA6). We report a child with congenital ataxia, abnormal eye movements and developmental delay who presented severe...

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Identifiers

PMID: 24836863
DOI: 10.1016/j.jns.2014.04.027

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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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