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Article

A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.

Neurobiology of disease - 1 Dec 2008

Ohmori Iori, Ouchida Mamoru, Miki Takafumi, Mimaki Nobuyoshi, Kiyonaka Shigeki, Nishiki Teiichi, Tomizawa Kazuhito, Mori Yasuo, Matsui Hideki

Abstract excerpt

Mutations of SCN1A, encoding the voltage-gated sodium channel alpha1 subunit, represent the most frequent genetic cause of severe myoclonic epilepsy in infancy (SMEI). The purpose of this study was to determine if mutations in other seizure susceptibility genes are also present and could modify the disease severity. All coding exons of SCN1B, GABRG2, and CACNB4 genes were screened for mutations in 38...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18755274
DOI: 10.1016/j.nbd.2008.07.017

Genes

CACNB4
GABRG2

Provenance

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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