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Article

A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.

Proceedings of the National Academy of Sciences of the United States of America - 26 Jan 2010

Serra Selma A, Cuenca-León Ester, Llobet Artur, Rubio-Moscardo Francisca, Plata Cristina, Carreño Oriel, Fernàndez-Castillo Noèlia, Corominas Roser, Valverde Miguel A, Macaya Alfons, Cormand Bru, Fernández-Fernández José M

Abstract excerpt

Familial hemiplegic migraine (FHM)-causing mutations in the gene encoding the P/Q Ca(2+) channel alpha(1A) subunit (CACNA1A) locate to the pore and voltage sensor regions and normally involve gain-of-channel function. We now report on a mutation identified in the first intracellular loop of CACNA...

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Identifiers

PMID: 20080591
DOI: 10.1073/pnas.0908359107
PMCID: PMC2824376

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20080591-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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