title: A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.
abstract: 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 nucleotide exchange affects the conserved donor splice site motif in intron 9. This mutation can be predicted to give rise to aberrant splicing of the primary transcript. There was a wide range of clinical manifestations in this family. An unusual clinical feature is the occurrence of partial seizures in later life with corresponding focal neurological deficits.
authors.affiliation: Department of Pediatrics, National University of Singapore, Singapore.
authors.forename: W L
authors.initials: WL
authors.lastname: Lee
authors.forename: C
authors.initials: C
authors.lastname: Biervert
authors.forename: K
authors.initials: K
authors.lastname: Hallmann
authors.forename: A
authors.initials: A
authors.lastname: Tay
authors.forename: J C
authors.initials: JC
authors.lastname: Dean
authors.forename: O K
authors.initials: OK
authors.lastname: Steinlein
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002890:Chromosomes, Human, Pair 20; D020936:Epilepsy, Benign Neonatal / Q000175:diagnosis / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D051658:KCNQ2 Potassium Channel; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D012326:RNA Splicing / Q000235:genetics*
chemical_list: D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated