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

Iori Ohmori, Mamoru Oouchida, Yoko Ohtsuka, Eiji Oka, Kenji Shimizub

Research output: Contribution to journalArticle

189 Citations (Scopus)

Abstract

To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel α1-subunit (SCN1A) gene, β1-subunit (SCN1B) gene, and γ-aminobutyric acidA receptor γ2-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.

Original languageEnglish
Pages (from-to)17-23
Number of pages7
JournalBiochemical and Biophysical Research Communications
Volume295
Issue number1
DOIs
Publication statusPublished - 2002

Fingerprint

Myoclonic Epilepsy
Genes
Mutation
Epilepsy
Parents
Voltage-Gated Sodium Channels
Nonsense Codon
Sequence Deletion
Insertional Mutagenesis
Meiosis
Genetic Association Studies
Missense Mutation
Blood Cells
Blood
Cells
DNA

Keywords

  • GABRG2
  • Generalized epilepsy with febrile seizures plus
  • Neuronal voltage-gated sodium channel
  • SCN1A
  • SCN1B
  • Sever myoclonic epilepsy in infancy

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

Cite this

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. / Ohmori, Iori; Oouchida, Mamoru; Ohtsuka, Yoko; Oka, Eiji; Shimizub, Kenji.

In: Biochemical and Biophysical Research Communications, Vol. 295, No. 1, 2002, p. 17-23.

Research output: Contribution to journalArticle

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