title: KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.
abstract: The molecular pathogenesis of benign childhood epilepsy with centrotemporal spikes (BECTS) remains unclear whereas mutations of the KCNQ2 and KCNQ3 genes have been identified as causes of benign familial neonatal convulsions. We report here a girl with benign neonatal convulsions followed by BECTS, for whom a mutation of KCNQ2 was identified. This case may provide the clue to the understanding of the molecular pathogenesis of BECTS.
authors.affiliation: Department of Pediatrics, Fukuoka University, Fukuoka, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ishii
authors.forename: Tasuku
authors.initials: T
authors.lastname: Miyajima
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kurahashi
authors.forename: Ji-Wen
authors.initials: JW
authors.lastname: Wang
authors.forename: Sawa
authors.initials: S
authors.lastname: Yasumoto
authors.forename: Sunao
authors.initials: S
authors.lastname: Kaneko
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
mesh_terms: D004569:Electroencephalography; D020936:Epilepsy, Benign Neonatal / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D019305:Epilepsy, Rolandic / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005192:Family Health; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D051658:KCNQ2 Potassium Channel / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D017434:Protein Structure, Tertiary
chemical_list: D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human