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A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.
S Hirose
1 ,
F Zenri ,
H Akiyoshi ,
G Fukuma ,
H Iwata ,
T Inoue ,
M Yonetani ,
M Tsutsumi ,
H Muranaka ,
T Kurokawa ,
T Hanai ,
K Wada ,
S Kaneko ,
A Mitsudome
Jun 2000
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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.