A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns Academic Article uri icon

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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.

authors

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

publication date

  • January 1998

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