PMID: 9430594Feb 7, 1998Paper

A potassium channel mutation in neonatal human epilepsy

Science
C BiervertO K Steinlein

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.

References

Oct 1, 1990·Brain : a Journal of Neurology·E R Brunt, T W van Weerden
Nov 1, 1994·Archives of Neurology·S F BerkovicG A Nicholson
Sep 8, 1994·Nature·L Y Jan, Y N Jan
Nov 12, 1996·Proceedings of the National Academy of Sciences of the United States of America·C LorenzT J Jentsch
Oct 31, 1996·DNA Research : an International Journal for Rapid Publication of Reports on Genes and Genomes·M YokoyamaK Matsubara
Jan 1, 1997·Brain & Development·S F Berkovic, I E Scheffer
Nov 14, 1997·Nature Genetics·I SplawskiM T Keating

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Citations

Dec 7, 2000·Mental Retardation and Developmental Disabilities Research Reviews·E M Mizrahi, R R Clancy
Dec 7, 2000·Mental Retardation and Developmental Disabilities Research Reviews·C E Stafstrom, B L Tempel
Sep 11, 1999·Annals of Neurology·H LercheO K Steinlein
Oct 8, 1999·Annals of Neurology·A PeifferM Leppert
Jun 21, 2001·Annals of Neurology·X F Yang, S M Rothman
Sep 5, 2002·Movement Disorders : Official Journal of the Movement Disorder Society·Sian D SpaceyNicholas W Wood
Jul 27, 2011·Der Nervenarzt·H LercheC Elger
Apr 22, 2008·The Journal of Membrane Biology·Akira UeharaKiyoko Uehara
Nov 13, 2012·Journal of Neurology·Snezana Maljevic, Holger Lerche
Apr 20, 2010·Pflügers Archiv : European journal of physiology·Snezana MaljevicHolger Lerche
Oct 20, 2004·Journal of the Association for Research in Otolaryngology : JARO·Weng Hoe WongRuth Anne Eatock
Nov 8, 2008·Cell Biochemistry and Biophysics·Sara I Börjesson, Fredrik Elinder
Jul 30, 2008·Journal of Molecular Neuroscience : MN·Juan Navarro-LópezJonathan F Ashmore
Mar 18, 2004·Bioorganic & Medicinal Chemistry Letters·Piyasena HewawasamSteven I Dworetzky
Apr 9, 2013·European Journal of Pharmacology·William Dalby-BrownSusanne Jørgensen
Nov 5, 2003·Experimental Neurology·Robert L MacdonaldHuajun Feng
Sep 4, 2013·Journal of Neuroscience Methods·William BarnettGennady Cymbalyuk
Jan 3, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Brian S Meldrum, Michael A Rogawski
Jan 3, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Roger J PorterChris Rundfeldt
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Sarah E HeronJohn C Mulley
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Sanjeev RajakulendranMichael G Hanna
Jun 15, 2005·Journal of Molecular and Cellular Cardiology·A Jahangir, Andre Terzic
Apr 20, 2000·European Journal of Pharmacology·O K Steinlein
Mar 14, 2002·European Journal of Pharmacology·Delphine S DupuisSøren P Olesen
Dec 31, 2002·Neuropharmacology·Alan D Wickenden
Aug 26, 2000·Progress in Biophysics and Molecular Biology·B S Brown, S P Yu
Jul 31, 2003·Progress in Biophysics and Molecular Biology·Anurag Varshney, M K Mathew
Jul 13, 2001·Pharmacology & Therapeutics·J Robbins
Aug 23, 2002·Pharmacology & Therapeutics·Alan Wickenden
Nov 3, 2001·Brain Research. Brain Research Reviews·B MoulardD Bertrand
Jun 6, 2000·Trends in Pharmacological Sciences·M C Sanguinetti
Aug 14, 2003·Trends in Pharmacological Sciences·Ingrid E Scheffer, Samuel F Berkovic
Sep 3, 2002·Neuroscience Research·Sunao KanekoShinichi Hirose
Oct 19, 2000·Brain Research. Molecular Brain Research·F Jow, K Wang
May 17, 2002·Brain & Development·Shinichi HiroseAkihisa Mitsudome

❮ Previous
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