Avtor/Urednik		Fister, Petja; Soltirovska Šalamon, Aneta; Debeljak, Maruša; Paro Panjan, Darja
Naslov		Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6
Tip		članek
Vol. in št.		Letnik 17, št. 3
Leto izdaje		2013
Obseg		str. 308-310
ISSN		1090-3798 - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Jezik		eng
Abstrakt		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.
Proste vsebinske oznake		newborn family convulsions mutation epilepsy