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

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

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206 Citations (Scopus)


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
Issue number1
Publication statusPublished - 2002


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

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology


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