Channelpedia

PubMed 23146207


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ2 , KCNQ3 , Kv7.2 , Kv7.3



Title: Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.

Authors: Petja Fister, Aneta Soltirovska-Salamon, Marusa Debeljak, Darja Paro-Panjan

Journal, date & volume: Eur. J. Paediatr. Neurol., 2013 May , 17, 308-10

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23146207


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.