A novel mutation of KCNQ3 (c.925T—>C) in a Japanese family with benign familial neonatal convulsions

S Hirose, 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
Annals of Neurology 2000, 47 (6): 822-6
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.

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