| Literature DB >> 19167866 |
Yoshihiro Sugiura1, Fubito Nakatsu, Kiwamu Hiroyasu, Atsushi Ishii, Shinichi Hirose, Motohiro Okada, Itsuki Jibiki, Hiroshi Ohno, Sunao Kaneko, Yoshikazu Ugawa.
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.Entities:
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Year: 2009 PMID： 19167866 DOI： 10.1016/j.eplepsyres.2008.12.003
Source DB: PubMed Journal: Epilepsy Res ISSN： 0920-1211 Impact factor: 3.045