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A potassium channel mutation in neonatal human epilepsy | | C Biervert
; B C Schroeder
; C Kubisch
; S F Berkovic
; P Propping
; T J Jentsch
; O K Steinlein
; | | Date: |
16 Jan 1998 | | Journal: | Science, 279 (5349), 403-6 | | 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. | | Source: | PubMed, pmid9430594 | | Services: | Forum | Review | Favorites | |
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