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A Potassium Channel Mutation in Neonatal Human Epilepsy

Science  16 Jan 1998:
Vol. 279, Issue 5349, pp. 403-406
DOI: 10.1126/science.279.5349.403

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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.

  • * These authors contributed equally to this work.

  • To whom correspondence should be addressed. E-mail: Jentsch{at}plexus.uke.uni-hamburg.de (T.J.J.); steinlein{at}snphysio2.wilhelm.uni-bonn.de (O.K.S.)

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