Channelpedia

PubMed 9430594


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ2 , Kv7.2 , Slo1



Title: A potassium channel mutation in neonatal human epilepsy.

Authors: C Biervert, B C Schroeder, C Kubisch, S F Berkovic, P Propping, T J Jentsch, O K Steinlein

Journal, date & volume: Science, 1998 Jan 16 , 279, 403-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/9430594


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.