作者
BFNC Physician Consortium Nanda A Singh , Peter Westenskow, Carole Charlier, Chris Pappas, Jonathan Leslie, Jessica Dillon, V Elving Anderson, Michael C Sanguinetti, Mark F Leppert
发表日期
2003/12
期刊
Brain
卷号
126
期号
12
页码范围
2726-2737
出版商
Oxford University Press
简介
Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant generalized epilepsy of the newborn infant. Seizures occur repeatedly in the first days of life and remit by approximately 4 months of age. Previously our laboratory cloned two novel potassium channel genes, KCNQ2 and KCNQ3, and showed that they are mutated in patients with BFNC. In this report, we characterize the breakpoints of a previously reported interstitial deletion in the KCNQ2 gene and show that only KCNQ2 is deleted. We identify 11 novel mutations in KCNQ2 and one novel mutation in the KCNQ3 potassium channel genes. In one family, the phenotype extends beyond neonatal seizures and includes rolandic seizures, and a subset of families has onset of seizures in infancy. In the Xenopus oocyte expression system, we characterize five KCNQ2 and one KCNQ3 disease‐causing mutations. These mutations cause a …
引用总数
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