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Article

Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new <i>CACNA1A</i> mutation

28 Sept 2004

Abstract excerpt

The CACNA1A gene encodes the pore-forming subunit of neuronal P/Q type Ca2+ channels. Mutations in this gene cause a spectrum of neurologic diseases, including familial hemiplegic migraine (FHM) with or without ataxia.1 We report a novel de novo CACNA1A mutation in a Swedish family. Three mutation carriers had FHM and early onset ataxia; additional childhood epilepsy occurred in two . The proband, II-3, is a...

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Identifiers

PMID: 15452324
DOI: 10.1212/01.wnl.0000138571.48593.fc

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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