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

Autor:	Hirose, Shinichi, Zenri, Fumiko, Akiyoshi, Hidetaka, Fukuma, Goryu, Iwata, Hiromi, Inoue, Takahito, Yonetani, Minako, Tsutsumi, Makoto, Muranaka, Hideki, Kurokawa, Toru, Hanai, Toshio, Wada, Kazumaru, Kaneko, Sunao, Mitsudome, Akihisa
Zdroj:	Annals of Neurology; June 2000, Vol. 47 Issue: 6 p822-826, 5p
Abstrakt:	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. Ann Neurol 2000;47:822–826
Databáze:	Supplemental Index
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