Novel mutations in <i>Myoclonin1/EFHC1</i> in sporadic and familial juvenile myoclonic epilepsy

Abstract

Nine percent of consecutive juvenile myoclonic epilepsy cases from Mexico and Honduras clinics and 3% of clinic patients from Japan carry mutations in Myoclonin1/EFCH1. These results represent the highest number and percentage of mutations found for a juvenile myoclonic epilepsy causing gene of any population group.