A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns - PubMed (original) (raw)
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
Affiliations
- PMID: 9425895
- DOI: 10.1038/ng0198-25
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
N A Singh et al. Nat Genet. 1998 Jan.
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.
Comment in
- Epilepsy genes: excitement traced to potassium channels.
Stoffel M, Jan LY. Stoffel M, et al. Nat Genet. 1998 Jan;18(1):6-8. doi: 10.1038/ng0198-6. Nat Genet. 1998. PMID: 9425886 No abstract available.
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