PubMed 10852552

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ2 , KCNQ3 , Kv7.2 , Kv7.3

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

Authors: 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

Journal, date & volume: Ann. Neurol., 2000 Jun , 47, 822-6

PubMed link:

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.