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Article

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.

American journal of human genetics - 1 May 2000

Escayg A, De Waard M, Lee D D, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler M H

Abstract excerpt

Inactivation of the beta4 subunit of the calcium channel in the mouse neurological mutant lethargic results in a complex neurological disorder that includes absence epilepsy and ataxia. To determine the role of the calcium-channel beta4-subunit gene CACNB4 on chromosome 2q22-23 in related human disorders, we screened for mutations in small pedigrees with familial epilepsy and ataxia. The premature-termination...

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Source

Open in PubMed Open full text

Identifiers

PMID: 10762541
DOI: 10.1086/302909
PMCID: PMC1378014

Genes

CACNB4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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