title: A potassium channel mutation in neonatal human epilepsy.
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.
authors.affiliation: Institute for Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Biervert
authors.forename: B C
authors.initials: BC
authors.lastname: Schroeder
authors.forename: C
authors.initials: C
authors.lastname: Kubisch
authors.forename: S F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: P
authors.initials: P
authors.lastname: Propping
authors.forename: T J
authors.initials: TJ
authors.lastname: Jentsch
authors.forename: O K
authors.initials: OK
authors.lastname: Steinlein
mesh_terms: D000200:Action Potentials; D000595:Amino Acid Sequence; D000818:Animals; D001921:Brain / Q000378:metabolism; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D003001:Cloning, Molecular; D004827:Epilepsy / Q000235:genetics* / Q000378:metabolism; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007231:Infant, Newborn; D051658:KCNQ2 Potassium Channel; D008297:Male; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009865:Oocytes / Q000378:metabolism; D016366:Open Reading Frames; D010375:Pedigree; D011188:Potassium / Q000378:metabolism; D015221:Potassium Channels / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D024642:Potassium Channels, Voltage-Gated; D014982:Xenopus laevis
chemical_list: D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; C059983:potassium channel protein I(sk); D011188:Potassium