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Science 16 January 1998:
Vol. 279. no. 5349, pp. 403 - 406
DOI: 10.1126/science.279.5349.403
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Reports

A Potassium Channel Mutation in Neonatal Human Epilepsy

Christian Biervert, * Björn C. Schroeder, * Christian Kubisch, Samuel F. Berkovic, Peter Propping, Thomas J. Jentsch, dagger Ortrud K. Steinlein dagger

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.

C. Biervert, P. Propping, O. K. Steinlein, Institute for Human Genetics, University of Bonn, Bonn, Germany.
B. C. Schroeder, C. Kubisch, T. J. Jentsch, Zentrum für Molekulare Neurobiologie (ZMNH), University of Hamburg, Hamburg, Germany.
S. F. Berkovic, Department of Medicine (Neurology), University of Melbourne, Melbourne, Australia.
*   These authors contributed equally to this work.

dagger    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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J. Neurosci. 21, 9529-9540
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Synaptic Regulation of the Slow Ca2+-Activated K+ Current in Hippocampal CA1 Pyramidal Neurons: Implication in Epileptogenesis.
E. D. Martin, A. Araque, and W. Buno (2001)
J Neurophysiol 86, 2878-2886
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Future directions for epilepsy research.
M. P. Jacobs, G. D. Fischbach, M. R. Davis, M. A. Dichter, R. Dingledine, D. H. Lowenstein, M. J. Morrell, J. L. Noebels, M. A. Rogawski, S. S. Spencer, et al. (2001)
Neurology 57, 1536-1542
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Generalized epilepsy with febrile seizures plus: Further heterogeneity in a large family.
H. Lerche, Y. G. Weber, H. Baier, K. Jurkat-Rott, O. Kraus de Camargo, A. C. Ludolph, H. Bode, and F. Lehmann-Horn (2001)
Neurology 57, 1191-1198
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Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
K. Dedek, B. Kunath, C. Kananura, U. Reuner, T. J. Jentsch, and O. K. Steinlein (2001)
PNAS
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Genetic Suppression of Seizure Susceptibility in Drosophila.
D. Kuebler, H. Zhang, X. Ren, and M. A. Tanouye (2001)
J Neurophysiol 86, 1211-1225
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Hippocampal Heterotopia Lack Functional Kv4.2 Potassium Channels in the Methylazoxymethanol Model of Cortical Malformations and Epilepsy.
P. A. Castro, E. C. Cooper, D. H. Lowenstein, and S. C. Baraban (2001)
J. Neurosci. 21, 6626-6634
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Activation of Expressed KCNQ Potassium Currents and Native Neuronal M-Type Potassium Currents by the Anti-Convulsant Drug Retigabine.
L. Tatulian, P. Delmas, F. C. Abogadie, and D. A. Brown (2001)
J. Neurosci. 21, 5535-5545
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Properties of single M-type KCNQ2/KCNQ3 potassium channels expressed in mammalian cells.
A A Selyanko, J K Hadley, and D A Brown (2001)
J. Physiol. 534, 15-24
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The clinical impact of epilepsy genetics.
M R JOHNSON, M R JOHNSON, J W A S SANDER, and J W A S SANDER (2001)
J. Neurol. Neurosurg. Psychiatry 70, 428-430
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KCNQ4 channels expressed in mammalian cells: functional characteristics and pharmacology.
R. Sogaard, T. Ljungstrom, K. A. Pedersen, S.-P. Olesen, and B. S. Jensen (2001)
Am J Physiol Cell Physiol 280, C859-C866
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Alternative splicing of KCNQ2 potassium channel transcripts contributes to the functional diversity of M-currents.
Z. Pan, A. A Selyanko, J. K Hadley, D. A Brown, J. E Dixon, and D. McKinnon (2001)
J. Physiol. 531, 347-358
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Differential Expression of KCNQ2 Splice Variants: Implications to M Current Function during Neuronal Development.
J. S. Smith, C. A. Iannotti, P. Dargis, E. P. Christian, and J. Aiyar (2001)
J. Neurosci. 21, 1096-1103
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A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.
A. K Alekov, M. M. Rahman, N. Mitrovic, F. Lehmann-Horn, and H. Lerche (2000)
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Neurological potassium channelopathies.
M. Benatar (2000)
QJM 93, 787-797
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Potassium Channels: Molecular Defects, Diseases, and Therapeutic Opportunities.
C.-C. Shieh, M. Coghlan, J. P. Sullivan, and M. Gopalakrishnan (2000)
Pharmacol. Rev. 52, 557-594
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A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.
A. Gambardella, G. Annesi, M. De Fusco, A. Patrignani, U. Aguglia, F. Annesi, A. A. Pasqua, P. Spadafora, R. L. Oliveri, P. Valentino, et al. (2000)
Neurology 55, 1467-1471
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Channelopathies: ion channel defects linked to heritable clinical disorders.
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