title: Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).
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.
authors.affiliation: Department of Neurology, Fukushima Medical University, School of Medicine, Fukushima, Japan. y-sugiura@umin.ac.jp
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Sugiura
authors.forename: Fubito
authors.initials: F
authors.lastname: Nakatsu
authors.forename: Kiwamu
authors.initials: K
authors.lastname: Hiroyasu
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ishii
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
authors.forename: Motohiro
authors.initials: M
authors.lastname: Okada
authors.forename: Itsuki
authors.initials: I
authors.lastname: Jibiki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ohno
authors.forename: Sunao
authors.initials: S
authors.lastname: Kaneko
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Ugawa
mesh_terms: 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*
chemical_list: D051659:KCNQ3 Potassium Channel; D014364:Tryptophan; D001120:Arginine