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

Nature Geneticsvolume 18, pages25–29 (1998)Cite this article

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.

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Author information

Authors and Affiliations

  1. Department of Human Genetics, University of Utah, Salt Lake City, Utah, 84112, USA

    Nanda A. Singh, Carole Charlier, Dora Stauffer, Andy Peiffer & Mark Leppert

  2. Department of Cellular & Structural Biology, University of Texas Health Sciences Center, San Antonio, Texas, 78284, USA

    Barbara R. DuPont & Robin J. Leach

  3. Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, 84112, USA

    Roberta Melis

  4. Department of Pediatrics, McMaster University, Hamilton, Ontario, L8N 3Z5, Canada

    Gabriel M. Ronen

  5. Department of Pediatrics, Malmo University Hospital, S205021, Malmö, Sweden

    Ingrid Bjerre

  6. Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina, 29425, USA

    Thomas Quattlebaum

  7. The Children's Mercy Hospital, 2401 Gillham Road, Kansas City, Missouri, 64108, USA

    Jerome V. Murphy

  8. The Neurology Group, P.C., 1340DeKalb Street, Norristown, Pennsylvania, 19401, USA

    Malcolm L. McHarg

  9. Boston University School of Public Health, Boston, Massachusetts, 02118, USA

    David Gagnon

  10. Dr. C.A. Janeway Health Center, St. John's, Newfoundland, Al A 1R8, Canada

    Teodoro O. Rosales

  11. Department of Epidemiology, University of Minnesota, Minneapolis, Minnesota, 55455, USA

    V. Elving Anderson

Authors
  1. Nanda A. Singh
  2. Carole Charlier
  3. Dora Stauffer
  4. Barbara R. DuPont
  5. Robin J. Leach
  6. Roberta Melis
  7. Gabriel M. Ronen
  8. Ingrid Bjerre
  9. Thomas Quattlebaum
  10. Jerome V. Murphy
  11. Malcolm L. McHarg
  12. David Gagnon
  13. Teodoro O. Rosales
  14. Andy Peiffer
  15. V. Elving Anderson
  16. Mark Leppert

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Singh, N., Charlier, C., Stauffer, D.et al. A novel potassium channel gene,KCNQ2, is mutated in an inherited epilepsy of newborns.Nat Genet18, 25–29 (1998). https://doi.org/10.1038/ng0198-25

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