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

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

doi:10.1016/j.eplepsyres.2008.12.003

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

Epilepsy Res. 2009 Mar;84(1):82-5. doi: 10.1016/j.eplepsyres.2008.12.003. Epub 2009 Jan 23.

Authors

Yoshihiro Sugiura¹, Fubito Nakatsu, Kiwamu Hiroyasu, Atsushi Ishii, Shinichi Hirose, Motohiro Okada, Itsuki Jibiki, Hiroshi Ohno, Sunao Kaneko, Yoshikazu Ugawa

Affiliation

¹ Department of Neurology, Fukushima Medical University, School of Medicine, Fukushima, Japan. y-sugiura@umin.ac.jp

PMID: 19167866
DOI: 10.1016/j.eplepsyres.2008.12.003

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Animals
Arginine / genetics*
Cell Line, Transformed
Electric Stimulation / methods
Epilepsy, Benign Neonatal / etiology
Epilepsy, Benign Neonatal / genetics
Humans
KCNQ3 Potassium Channel / genetics*
KCNQ3 Potassium Channel / metabolism
Membrane Potentials / genetics
Membrane Potentials / physiology
Mice
Mutation / genetics*
Neural Conduction / genetics
Patch-Clamp Techniques / methods
Transfection / methods
Tryptophan / genetics*

Substances

KCNQ3 Potassium Channel
Tryptophan
Arginine