2009年3月
Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).
Epilepsy Res
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- 巻
- 84
- 号
- 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
- ID情報
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- DOI : 10.1016/j.eplepsyres.2008.12.003
- ISSN : 1872-6844
- PubMed ID : 19167866