title: A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
abstract: Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a dominantly inherited disorder of newborns. We have identified a sub-microscopic deletion of chromosome 20q13.3 that co-segregates with seizures in a BFNC family. Characterization of cDNAs spanning the deleted region identified one encoding a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KQT-like class of potassium channels. Five other BFNC probands were shown to have KCNQ2 mutations, including two transmembrane missense mutations, two frameshifts and one splice-site mutation. This finding in BFNC provides additional evidence that defects in potassium channels are involved in the mammalian epilepsy phenotype.
authors.affiliation: Department of Human Genetics, University of Utah, Salt Lake City 84112, USA.
authors.forename: N A
authors.initials: NA
authors.lastname: Singh
authors.forename: C
authors.initials: C
authors.lastname: Charlier
authors.forename: D
authors.initials: D
authors.lastname: Stauffer
authors.forename: B R
authors.initials: BR
authors.lastname: DuPont
authors.forename: R J
authors.initials: RJ
authors.lastname: Leach
authors.forename: R
authors.initials: R
authors.lastname: Melis
authors.forename: G M
authors.initials: GM
authors.lastname: Ronen
authors.forename: I
authors.initials: I
authors.lastname: Bjerre
authors.forename: T
authors.initials: T
authors.lastname: Quattlebaum
authors.forename: J V
authors.initials: JV
authors.lastname: Murphy
authors.forename: M L
authors.initials: ML
authors.lastname: McHarg
authors.forename: D
authors.initials: D
authors.lastname: Gagnon
authors.forename: T O
authors.initials: TO
authors.lastname: Rosales
authors.forename: A
authors.initials: A
authors.lastname: Peiffer
authors.forename: V E
authors.initials: VE
authors.lastname: Anderson
authors.forename: M
authors.initials: M
authors.lastname: Leppert
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002461:Cell Line, Transformed; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D018076:DNA, Complementary; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D051658:KCNQ2 Potassium Channel; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D017386:Sequence Homology, Amino Acid
chemical_list: D018076:DNA, Complementary; D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated