Helmholtz Gemeinschaft


A potassium channel mutation in neonatal human epilepsy

Item Type:Article
Title:A potassium channel mutation in neonatal human epilepsy
Creators Name:Biervert, C. and Schroeder, B.C. and Kubisch, C. and Berkovic, S.F. and Propping, P. and Jentsch, T.J. and Steinlein, O.K.
Abstract:Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci mapped to human chromosomes 20q13.3 and 8q24. By positional cloning, a potassium channel gene (KCNQ2) located on 20q13.3 was isolated and found to be expressed in brain. Expression of KCNQ2 in frog (Xenopus laevis) oocytes led to potassium-selective currents that activated slowly with depolarization. In a large pedigree with BFNC, a five-base pair insertion would delete more than 300 amino acids from the KCNQ2 carboxyl terminus. Expression of the mutant channel did not yield measurable currents. Thus, impairment of potassium-dependent repolarization is likely to cause this age-specific epileptic syndrome.
Keywords:Action Potentials, Amino Acid Sequence, Brain, Chromosome Mapping, Human Chromosomes Pair 20, Molecular Cloning, Epilepsy, Frameshift Mutation, KCNQ2 Potassium Channel, Molecular Sequence Data, Insertional Mutagenesis, Oocytes, Open Reading Frames, Pedigree, Potassium, Voltage-Gated Potassium Channels, Animals, Xenopus Laevis
Publisher:American Association for the Advancement of Science
Page Range:403-406
Date:16 January 1998
Official Publication:https://doi.org/10.1126/science.279.5349.403
PubMed:View item in PubMed

Repository Staff Only: item control page

Open Access
MDC Library