Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).
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.
Sugiura
Yoshihiro
Y
Department of Neurology, Fukushima Medical University, School of Medicine, Fukushima, Japan. y-sugiura@umin.ac.jp
Nakatsu
Fubito
F
Hiroyasu
Kiwamu
K
Ishii
Atsushi
A
Hirose
Shinichi
S
Okada
Motohiro
M
Jibiki
Itsuki
I
Ohno
Hiroshi
H
Kaneko
Sunao
S
Ugawa
Yoshikazu
Y
D000818:Animals; D001120:Arginine / Q000235:genetics*; D002461:Cell Line, Transformed; D004558:Electric Stimulation / Q000379:methods; D020936:Epilepsy, Benign Neonatal / Q000209:etiology / Q000235:genetics; D006801:Humans; D051659:KCNQ3 Potassium Channel / Q000235:genetics* / Q000378:metabolism; D008564:Membrane Potentials / Q000235:genetics / Q000502:physiology; D051379:Mice; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics; D018408:Patch-Clamp Techniques / Q000379:methods; D014162:Transfection / Q000379:methods; D014364:Tryptophan / Q000235:genetics*
D051659:KCNQ3 Potassium Channel; D014364:Tryptophan; D001120:Arginine