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Article

Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.

Journal of the neurological sciences - 15 Jan 2009

Veneziano Liana, Guida Serena, Mantuano Elide, Bernard Paola, Tarantino Patrizia, Boccone Loredana, Hisama Fuki M, Carrera Paola, Jodice Carla, Frontali Marina

Abstract excerpt

The CACNA1A gene codes for the alpha(1A) pore-forming subunit of Ca(2+) voltage-gated Cav2.1 channels. CACNA1A mutations are responsible for Familial Hemiplegic Migraine (FHM) type 1, Episodic Ataxia (EA) type 2 and Spinocerebellar Ataxia type 6. The structure of the human gene includes, at prese...

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Identifiers

PMID: 18976783
DOI: 10.1016/j.jns.2008.08.030

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18976783-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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