JOURNAL ARTICLE

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

N A Singh, C Charlier, D Stauffer, B R DuPont, R J Leach, R Melis, G M Ronen, I Bjerre, T Quattlebaum, J V Murphy, M L McHarg, D Gagnon, T O Rosales, A Peiffer, V E Anderson, M Leppert
Nature Genetics 1998, 18 (1): 25-9
9425895
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.

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