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Article

A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Cav2.1 P/Q-type channel gating.

Molecular brain - 20 Nov 2024

Sack Anne-Sophie, Samera Gennerick J, Hissen Anna, Wester Robert J, Garcia Esperanza, Adams Paul J, Snutch Terrance P

Abstract excerpt

P/Q-type (Cav2.1) calcium channels mediate Ca2+ influx essential for neuronal excitability and synaptic transmission. The CACNA1A gene, encoding the Cav2.1 pore forming subunit, is highly expressed throughout the mammalian central nervous system. Alternative splicing of Cav2.1 pre-mRNA generates diverse channel isoforms with distinct biophysical properties and drug affinities, which are differentially expressed...

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Source

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Identifiers

PMID: 39568055
DOI: 10.1186/s13041-024-01152-z
PMCID: PMC11580629

Genes

CACNA1A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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