SCN1A Gene Mutations in Severe Infantile Myoclonic Epilepsy

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-16-4-6

Keywords:

Severe Myoclonic Epilepsy, Myoclonic Seizures, Heterozygous Mutations

Abstract

Ten novel mutations of SCN1A were found in in a pair of monozygotic twins and 12 unrelated Japanese infants with severe myoclonic epilepsy in infancy (SMEI) examined at the Brain Science Institute, Saitama; and National Epilepsy Center, Shizuoko, Japan.

Published

2002-04-01

Issue

Section

Seizure Disorders