کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3052784 | 1186123 | 2009 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC)
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
عصب شناسی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC) Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC)](/preview/png/3052784.png)
چکیده انگلیسی
SummaryBFNC 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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Epilepsy Research - Volume 84, Issue 1, March 2009, Pages 82–85
Journal: Epilepsy Research - Volume 84, Issue 1, March 2009, Pages 82–85
نویسندگان
Yoshihiro Sugiura, Fubito Nakatsu, Kiwamu Hiroyasu, Atsushi Ishii, Shinichi Hirose, Motohiro Okada, Itsuki Jibiki, Hiroshi Ohno, Sunao Kaneko, Yoshikazu Ugawa,