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Nat Genet. 1998 Jan;18(1):6-8.
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
Singh NA,
Charlier C,
Stauffer D,
DuPont BR,
Leach RJ,
Melis R,
Ronen GM,
Bjerre I,
Quattlebaum T,
Murphy JV,
McHarg ML,
Gagnon D,
Rosales TO,
Peiffer A,
Anderson VE,
Leppert M.
Department of Human Genetics, University of Utah, Salt Lake City 84112, USA.
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 channel, KCNQ2, which belongs to a new KQT-like class of potassium channels. Five other BFNC probands were shown to have KCNQ2 mutations, including two transmembrane missense mutations, two frameshifts and one splice-site mutation. This finding in BFNC provides additional evidence that defects in potassium channels are involved in the mammalian epilepsy phenotype.
PMID: 9425895 [PubMed - indexed for MEDLINE]