論文

国際誌
2009年3月

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

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

84
1
開始ページ
82
終了ページ
85
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.eplepsyres.2008.12.003

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.

リンク情報
DOI
https://doi.org/10.1016/j.eplepsyres.2008.12.003
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/19167866
ID情報
  • DOI : 10.1016/j.eplepsyres.2008.12.003
  • ISSN : 1872-6844
  • PubMed ID : 19167866

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