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Updated: Jun 26, 2026

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
Published on: March 12, 2013
Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC)
Yoshihiro Sugiura1, Fubito Nakatsu, Kiwamu Hiroyasu
1Department of Neurology, Fukushima Medical University, School of Medicine, Fukushima, Japan. y-sugiura@umin.ac.jp
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.
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