title: Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.
abstract: Benign familial neonatal convulsions (BFNC) is a rare, clinically and genetically heterogenous epileptic disorder. Two voltage gated potassium genes, KCNQ2 and KCNQ3, have been identified as genes responsible for BFNC1 and BFNC2 respectively. While as many as 73 mutations of KCNQ2 have been described up to date, only 4 mutations in KCNQ3, 3 of them appearing in exon 5, have been identified. Mutation in exon 6 was found for the first time in a Chinese family, and here we report the same missense mutation of KCNQ3 within exon 6 in a Caucasian family, whose history and clinical picture were in accordance with BFNC.
authors.affiliation: Department of Neonatology, University Children's Hospital, University Medical Centre, Bohoričeva ulica 20, Ljubljana, Slovenia.
authors.forename: Petja
authors.initials: P
authors.lastname: Fister
authors.forename: Aneta
authors.initials: A
authors.lastname: Soltirovska-Salamon
authors.forename: Marusa
authors.initials: M
authors.lastname: Debeljak
authors.forename: Darja
authors.initials: D
authors.lastname: Paro-Panjan
mesh_terms: D020936:Epilepsy, Benign Neonatal / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D051659:KCNQ3 Potassium Channel / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D017524:Slovenia
chemical_list: D051659:KCNQ3 Potassium Channel