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

Abstract：

: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 SCN1A gene were detected in 24 of the 29 patients (82.7%) with SME, although none with other types of epilepsy. The mutations included deletion, insertion, missense, and nonsense mutations. We could not find any mutations of the SCN1B and GABRG2 genes in all patients. Our data suggested that the SCN1A mutations were significantly correlated with SME (p<.0001). As we could not find SCN1A mutations in their parents, one of critical causes of SME may be de novo mutation of the SCN1A gene occurred in the course of meiosis in the parents.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Ohmori I,Ouchida M,Ohtsuka Y,Oka E,Shimizu K

doi

10.1016/s0006-291x(02)00617-4

subject

Has Abstract

pub_date

2002-07-05 00:00:00

pages

17-23

issue

1

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(02)00617-4

journal_volume

295

pub_type

杂志文章

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