International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels.
Gutman GA
et al.
Pharmacol Rev 2005 Dec;57(4)473-508
Pharmacol Rev 2005 Dec;57(4)473-508
HGNC data for KCNQ2
Bos taurus
Canis familiaris
Equus caballus
Felis catus
Macaca mulatta
Mus musculus
Pan troglodytes
Rattus norvegicus
Sus scrofa
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
Singh NA
et al.
Nat Genet 1998 Jan;18(1)25-29
Nat Genet 1998 Jan;18(1)25-29
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 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.