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Article

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.

Annals of neurology - 1 Dec 2007

Heron Sarah E, Khosravani Houman, Varela Diego, Bladen Chris, Williams Tristiana C, Newman Michelle R, Scheffer Ingrid E, Berkovic Samuel F, Mulley John C, Zamponi Gerald W

Abstract excerpt

OBJECTIVE: The relationship between genetic variation in the T-type calcium channel gene CACNA1H and childhood absence epilepsy is well established. The purpose of this study was to investigate the range of epilepsy syndromes for which CACNA1H variants may contribute to the genetic susceptibility architecture and determine the electrophysiological effects of these variants in relation to proposed mechanisms...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17696120
DOI: 10.1002/ana.21169

Provenance

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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