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Article

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

Biochemical and biophysical research communications - 5 Jul 2002

Ohmori Iori, Ouchida Mamoru, Ohtsuka Yoko, Oka Eiji, Shimizu Kenji

Abstract excerpt

To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel alpha1-subunit (SCN1A) gene, beta1-subunit (SCN1B) gene, and gamma-aminobutyric acid(A) receptor gamma2-subunit (GABRG2) gene in DNAs from peripheral blood cells of 29 patients with severe myoclonic epilepsy in infancy (SME) and 11 patients with other types of epilepsy. Mutations of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12083760
DOI: 10.1016/s0006-291x(02)00617-4

Genes

GABRG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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