PubMed 19167866

Referenced in Channelpedia wiki pages of: none

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

Title: Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).

Authors: Yoshihiro Sugiura, Fubito Nakatsu, Kiwamu Hiroyasu, Atsushi Ishii, Shinichi Hirose, Motohiro Okada, Itsuki Jibiki, Hiroshi Ohno, Sunao Kaneko, Yoshikazu Ugawa

Journal, date & volume: Epilepsy Res., 2009 Mar , 84, 82-5

PubMed link:

BFNC is an autosomal dominant epileptic disorder caused by mutations of KCNQ2 or KCNQ3 potassium channel gene. W309R missense mutation in KCNQ3 gene was previously reported in a family with BFNC. In this study, potassium currents were recorded from HEK293 cells expressing both W309R mutant KCNQ3 and wild type KCNQ2 channels. We found a lack of potassium current in W309R mutant KCNQ3 and KCNQ2 channels, which can explain the hyper-excitability of CNS in patients with BFNC.