Article
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.
Neuropediatrics - 1 Feb 2000
Lee W L, Biervert C, Hallmann K, Tay A, Dean J C, Steinlein O K
Abstract excerpt
Benign familial neonatal convulsions (BFNC) are one of the rare idiopathic epilepsies with autosomal dominant mode of inheritance. Two voltage-gated potassium channels, KCNQ2 on chromosome 20q13.3 and KCNQ3 on 8q24, have been recently identified as the genes responsible for BFNC. Here we describe a large family with BFNC in which we found a previously undescribed mutation in the KCNQ2 gene. A 1187(+2)T/G...
Topics
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 20
- Epilepsy, Benign Neonatal
- Genes, Dominant
- Humans
- Infant, Newborn
- KCNQ2 Potassium Channel
- Male
- Mutation
- Pedigree