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A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions
Author(s) -
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
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200006)47:6<822::aid-ana19>3.0.co;2-x
Subject(s) - mutation , allele , genetics , gene , medicine , biology , microbiology and biotechnology
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 Trp 309 , 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