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- Title
A potassium channel mutation in neonatal human epilepsy.
- Authors
Biervert, C; Schroeder, B C; Kubisch, C; Berkovic, S F; Propping, P; Jentsch, T J; 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.
- Publication
Science (New York, N.Y.), 1998, Vol 279, Issue 5349, p403
- ISSN
0036-8075
- Publication type
Journal Article
- DOI
10.1126/science.279.5349.403