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

@article{Ohmori2002SignificantCO,
  title={Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.},
  author={Iori Ohmori and Mamoru Ouchida and Yoko Ohtsuka and Eiji Oka and Kenji Shimizu},
  journal={Biochemical and biophysical research communications},
  year={2002},
  volume={295 1},
  pages={17-23}
}
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… CONTINUE READING