SCN1A Gene Mutations in Severe Infantile Myoclonic Epilepsy

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.

Keywords

• severe myoclonic epilepsy
• myoclonic seizures
• heterozygous mutations