title: A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.
abstract: At present, only one mutation of KCNQ3, a KCNQ potassium channel gene, has been identified as a cause of benign familial neonatal convulsions type 2 (BFNC2). We found a T to C substitution (c.925T-C) on one allele of affected individuals in a Japanese family with BFNC but not on 200 alleles from healthy subjects. c.925T-->C replaced Trp309, a conserved residue within the P-loop of the KCNQ potassium channel family that holds the channel pore open, with an Arg (W309R). We report c.925T-->C as the second mutation of KCNQ3 responsible for BFNC2.
authors.affiliation: Department of Pediatrics, School of Medicine, Fukuoka University, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Hirose
authors.forename: F
authors.initials: F
authors.lastname: Zenri
authors.forename: H
authors.initials: H
authors.lastname: Akiyoshi
authors.forename: G
authors.initials: G
authors.lastname: Fukuma
authors.forename: H
authors.initials: H
authors.lastname: Iwata
authors.forename: T
authors.initials: T
authors.lastname: Inoue
authors.forename: M
authors.initials: M
authors.lastname: Yonetani
authors.forename: M
authors.initials: M
authors.lastname: Tsutsumi
authors.forename: H
authors.initials: H
authors.lastname: Muranaka
authors.forename: T
authors.initials: T
authors.lastname: Kurokawa
authors.forename: T
authors.initials: T
authors.lastname: Hanai
authors.forename: K
authors.initials: K
authors.lastname: Wada
authors.forename: S
authors.initials: S
authors.lastname: Kaneko
authors.forename: A
authors.initials: A
authors.lastname: Mitsudome
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D005091:Exons; D005260:Female; D006801:Humans; D007564:Japan; D051659:KCNQ3 Potassium Channel; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D012640:Seizures / Q000151:congenital / Q000235:genetics*; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D051659:KCNQ3 Potassium Channel; C496916:KCNQ3 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated