A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.
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.
Hirose
S
S
Department of Pediatrics, School of Medicine, Fukuoka University, Japan.
Zenri
F
F
Akiyoshi
H
H
Fukuma
G
G
Iwata
H
H
Inoue
T
T
Yonetani
M
M
Tsutsumi
M
M
Muranaka
H
H
Kurokawa
T
T
Hanai
T
T
Wada
K
K
Kaneko
S
S
Mitsudome
A
A
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
D051659:KCNQ3 Potassium Channel; C496916:KCNQ3 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated