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

Nanda A. Singh, Carole Charlier, Dora Stauffer, Barbara R. DuPont, Robin J. Leach, Roberta Melis, Gabriel M. Ronen, Ingrid Bjerre, Thomas Quattlebaum, Jerome V. Murphy, Malcolm L. McHarg, David Gagnon, Teodoro O. Rosales, Andy Peiffer, V. Elving Anderson, Mark Leppert

Research output: Contribution to journalReview articlepeer-review

966 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)25-29
Number of pages5
JournalNature Genetics
Volume18
Issue number1
DOIs
StatePublished - 1998
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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