Auteurs
Pereira S - Roll P - Krizova J - Genton P - Brazdil M - Kuba R - Cau P - Rektor I - Szepetowski P
Journal
Epilepsia
Abstract
Benign neonatal familial convulsions (BNFCs) represent a rare epileptic disorder with autosomal dominant mode of inheritance. To date, two voltage-gated potassium (K+) channel genes, KCNQ2 and KCNQ3, have been identified in typical BNFC families. The study of new pedigrees may help detect new mutations and define genotype-phenotype correlations.