Author/Editor		Fister, Petja; Soltirovska Šalamon, Aneta; Debeljak, Maruša; Paro Panjan, Darja
Title		Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6
Type		članek
Vol. and No.		Letnik 17, št. 3
Publication year		2013
Volume		str. 308-310
ISSN		1090-3798 - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Language		eng
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.
Keywords		newborn family convulsions mutation epilepsy