A Potassium Channel Mutation in Neonatal Human Epilepsy
10.1126/science.279.5349.403
Crossref journal-article
American Association for the Advancement of Science (AAAS)
Science (221)
Abstract

Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci mapped to human chromosomes 20q13.3 and 8q24. By positional cloning, a potassium channel gene ( KCNQ2 ) located on 20q13.3 was isolated and found to be expressed in brain. Expression of KCNQ2 in frog ( Xenopus laevis ) oocytes led to potassium-selective currents that activated slowly with depolarization. In a large pedigree with BFNC, a five–base pair insertion would delete more than 300 amino acids from the KCNQ2 carboxyl terminus. Expression of the mutant channel did not yield measurable currents. Thus, impairment of potassium-dependent repolarization is likely to cause this age-specific epileptic syndrome.

Bibliography

Biervert, C., Schroeder, B. C., Kubisch, C., Berkovic, S. F., Propping, P., Jentsch, T. J., & Steinlein, O. K. (1998). A Potassium Channel Mutation in Neonatal Human Epilepsy. Science, 279(5349), 403–406.

Authors 7
  1. Christian Biervert (first)
  2. Björn C. Schroeder (additional)
  3. Christian Kubisch (additional)
  4. Samuel F. Berkovic (additional)
  5. Peter Propping (additional)
  6. Thomas J. Jentsch (additional)
  7. Ortrud K. Steinlein (additional)
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Dates
Type When
Created 23 years, 1 month ago (July 27, 2002, 5:42 a.m.)
Deposited 1 year, 7 months ago (Jan. 12, 2024, 11:42 p.m.)
Indexed 1 week, 2 days ago (Aug. 20, 2025, 9:11 a.m.)
Issued 27 years, 7 months ago (Jan. 16, 1998)
Published 27 years, 7 months ago (Jan. 16, 1998)
Published Print 27 years, 7 months ago (Jan. 16, 1998)
Funders 0

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@article{Biervert_1998, title={A Potassium Channel Mutation in Neonatal Human Epilepsy}, volume={279}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.279.5349.403}, DOI={10.1126/science.279.5349.403}, number={5349}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Biervert, Christian and Schroeder, Björn C. and Kubisch, Christian and Berkovic, Samuel F. and Propping, Peter and Jentsch, Thomas J. and Steinlein, Ortrud K.}, year={1998}, month=jan, pages={403–406} }