A Potassium Channel Mutation in Neonatal Human Epilepsy

DOI Web Site 被引用文献62件
  • Christian Biervert
    C. Biervert, P. Propping, O. K. Steinlein, Institute for Human Genetics, University of Bonn, Bonn, Germany.
  • Björn C. Schroeder
    C. Biervert, P. Propping, O. K. Steinlein, Institute for Human Genetics, University of Bonn, Bonn, Germany.
  • Christian Kubisch
    C. Biervert, P. Propping, O. K. Steinlein, Institute for Human Genetics, University of Bonn, Bonn, Germany.
  • Samuel F. Berkovic
    C. Biervert, P. Propping, O. K. Steinlein, Institute for Human Genetics, University of Bonn, Bonn, Germany.
  • Peter Propping
    C. Biervert, P. Propping, O. K. Steinlein, Institute for Human Genetics, University of Bonn, Bonn, Germany.
  • Thomas J. Jentsch
    C. Biervert, P. Propping, O. K. Steinlein, Institute for Human Genetics, University of Bonn, Bonn, Germany.
  • Ortrud K. Steinlein
    C. Biervert, P. Propping, O. K. Steinlein, Institute for Human Genetics, University of Bonn, Bonn, Germany.

抄録

<jats:p> 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 ( <jats:italic>KCNQ2</jats:italic> ) located on 20q13.3 was isolated and found to be expressed in brain. Expression of <jats:italic>KCNQ2</jats:italic> in frog ( <jats:italic>Xenopus laevis</jats:italic> ) 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. </jats:p>

収録刊行物

  • Science

    Science 279 (5349), 403-406, 1998-01-16

    American Association for the Advancement of Science (AAAS)

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