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

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.

• Authors: Yoshihiro Sugiura, Fubito Nakatsu, Kiwamu Hiroyasu, Atsushi Ishii, Shinichi Hirose, Motohiro Okada, Itsuki Jibiki, Hiroshi Ohno, Sunao Kaneko, Yoshikazu Ugawa
• Journal: Epilepsy research (Epilepsy Res) Vol. 84 Issue 1 Pg. 82-5 (Mar 2009) ISSN: 1872-6844 [Electronic] Netherlands
• PMID: 19167866 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• KCNQ3 Potassium Channel
• Tryptophan
• Arginine

Topics

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