Journal article
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
Abstract
Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a dominantly inherited disorder of newborns. We have identified a sub-microscopic deletion of chromosome 20q13.3 that co-segregates with seizures in a BFNC family. Characterization of cDNAs spanning the deleted region identified one encoding a novel voltage-gated potassium …
Authors
Singh NA; Charlier C; Stauffer D; DuPont BR; Leach RJ; Melis R; Ronen GM; Bjerre I; Quattlebaum T; Murphy JV
Journal
Nature Genetics, Vol. 18, No. 1, pp. 25–29
Publisher
Springer Nature
Publication Date
1 1998
DOI
10.1038/ng0198-25
ISSN
1061-4036