Skip to main content

Welkom bij THIM Hogeschool voor Fysiotherapie & Bohn Stafleu van Loghum

THIM Hogeschool voor Fysiotherapie heeft ervoor gezorgd dat je Mijn BSL eenvoudig en snel kunt raadplegen. Je kunt je links eenvoudig registreren. Met deze gegevens kun je thuis, of waar ook ter wereld toegang krijgen tot Mijn BSL. Heb je een vraag, neem dan contact op met helpdesk@thim.nl.

Registreer

Om ook buiten de locaties van THIM, thuis bijvoorbeeld, van Mijn BSL gebruik te kunnen maken, moet je jezelf eenmalig registreren. Dit kan alleen vanaf een computer op een van de locaties van THIM.

Eenmaal geregistreerd kun je thuis of waar ook ter wereld onbeperkt toegang krijgen tot Mijn BSL.

Login

Als u al geregistreerd bent, hoeft u alleen maar in te loggen om onbeperkt toegang te krijgen tot Mijn BSL.

Top
Gepubliceerd in:

01-06-2007 | Interuniversity Cardiology Institute of the Netherlands

Diversity in cardiac sodium channel disease phenotype in transgenic mice carrying a single SCN5A mutation

Auteurs: C. A. Remme, A. O. Verkerk, A. A. M. Wilde, M. W. Veldkamp, J. M. T. de Bakker, C. R. Bezzina

Gepubliceerd in: Netherlands Heart Journal | Uitgave 6/2007

Log in om toegang te krijgen
share
DELEN

Deel dit onderdeel of sectie (kopieer de link)

  • Optie A:
    Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
  • Optie B:
    Deel de link per e-mail

Abstract

Lethal ventricular arrhythmias are increasingly considered an important cause of sudden death in relatively young individuals. A genetic predisposition has been recognised in many cases, and research in the last decade has focused on underlying inherited mutations in cardiac ion channels.
Literatuur
go back to reference Bezzina CR, Wilde AA, Roden DM. The molecular genetics of arrhythmias. Cardiovasc Res 2005;67:343-6. Bezzina CR, Wilde AA, Roden DM. The molecular genetics of arrhythmias. Cardiovasc Res 2005;67:343-6.
go back to reference Tan HL, Bezzina CR, Smits JP, Verkerk AO, Wilde AA. Genetic control of sodium channel function. Cardiovasc Res 2003;57:961-73. Tan HL, Bezzina CR, Smits JP, Verkerk AO, Wilde AA. Genetic control of sodium channel function. Cardiovasc Res 2003;57:961-73.
go back to reference Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999;23:20-1. Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999;23:20-1.
go back to reference Smits JPP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA, et al. A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J Mol Cell Cardiol 2005;38:969-81. Smits JPP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA, et al. A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J Mol Cell Cardiol 2005;38:969-81.
go back to reference Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 2003;112:1019-28. Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 2003;112:1019-28.
go back to reference Schwartz PJ. The congenital long QT syndromes from genotype to phenotype: clinical implications. J Intern Med 2006;259:39-47. Schwartz PJ. The congenital long QT syndromes from genotype to phenotype: clinical implications. J Intern Med 2006;259:39-47.
go back to reference Antzelevitch C. The Brugada syndrome: diagnostic criteria and cellular mechanisms. Eur Heart J 2001;22:356-63. Antzelevitch C. The Brugada syndrome: diagnostic criteria and cellular mechanisms. Eur Heart J 2001;22:356-63.
go back to reference Bezzina CR, Veldkamp MW, van den Berg MP, Postma AV, Rook MB, Viersma JW, et al. A single Na+ channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999;85:1206-13. Bezzina CR, Veldkamp MW, van den Berg MP, Postma AV, Rook MB, Viersma JW, et al. A single Na+ channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999;85:1206-13.
go back to reference Van den Berg MP, Wilde AAM, Viersma JW, Brouwer J, Haaksma J, van der Hout AH, et al. Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome. J Cardiovasc Electrophysiol 2001;12:630-6. Van den Berg MP, Wilde AAM, Viersma JW, Brouwer J, Haaksma J, van der Hout AH, et al. Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome. J Cardiovasc Electrophysiol 2001;12:630-6.
go back to reference Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC, Baró I, et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001; 104:3081-6. Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC, Baró I, et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001; 104:3081-6.
go back to reference Grant AO, Carboni MP, Neplioueva V, Starmer CF, Memmi M, Napolitano C, et al. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest 2002;110:1201-9. Grant AO, Carboni MP, Neplioueva V, Starmer CF, Memmi M, Napolitano C, et al. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest 2002;110:1201-9.
go back to reference Rossenbacker T, Carroll SJ, Liu H, Kuipéri C, de Ravel TJL, Devriendt K, et al. Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death. Heart Rhythm 2004;1:610-5. Rossenbacker T, Carroll SJ, Liu H, Kuipéri C, de Ravel TJL, Devriendt K, et al. Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death. Heart Rhythm 2004;1:610-5.
go back to reference Viswanathan PC, Balser JR. Inherited sodium channelopathies: a continuum of channel dysfunction. Trends Cardiovasc Med 2004;14:28-35. Viswanathan PC, Balser JR. Inherited sodium channelopathies: a continuum of channel dysfunction. Trends Cardiovasc Med 2004;14:28-35.
go back to reference Bennett PB, Yazawa K, Makita N, George AL. Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995;376:683-5. Bennett PB, Yazawa K, Makita N, George AL. Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995;376:683-5.
go back to reference Veldkamp MW, Viswanathan PC, Bezzina C, Baartscheer A, Wilde AAM, Balser JR. Two distinct congenital arrhythmias evoked by a multidysfunctional Na+ channel. Circ Res 2000;86:e91-e97. Veldkamp MW, Viswanathan PC, Bezzina C, Baartscheer A, Wilde AAM, Balser JR. Two distinct congenital arrhythmias evoked by a multidysfunctional Na+ channel. Circ Res 2000;86:e91-e97.
go back to reference Clancy CE, Rudy Y. Na+ channel mutation that causes both Brugada and long-QT syndrome phenotypes. A simulation study of mechanism. Circulation 2002;105:1208-13. Clancy CE, Rudy Y. Na+ channel mutation that causes both Brugada and long-QT syndrome phenotypes. A simulation study of mechanism. Circulation 2002;105:1208-13.
go back to reference Remme CA, Verkerk AO, Nuyens D, van Ginneken AC, van Brunschot S, Belterman CN, et al. Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD. Circulation 2006;114:2584-94. Remme CA, Verkerk AO, Nuyens D, van Ginneken AC, van Brunschot S, Belterman CN, et al. Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD. Circulation 2006;114:2584-94.
go back to reference Coronel R, Casini S, Koopmann TT, Wilms-Schopman FJG, Verkerk AO, de Groot JR, et al. Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiologic, genetic, histopathologic and computational study. Circulation 2005;112:2769-77. Coronel R, Casini S, Koopmann TT, Wilms-Schopman FJG, Verkerk AO, de Groot JR, et al. Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiologic, genetic, histopathologic and computational study. Circulation 2005;112:2769-77.
go back to reference Morita H, Fukushima-Kusano K, Nagase S, Takenaka-Morita S, Nishii N, Kakishita M, et al. Site-specific arrhythmogenesis in patients with Brugada syndrome. J Cardiovasc Electrophysiol 2003;14:373-9. Morita H, Fukushima-Kusano K, Nagase S, Takenaka-Morita S, Nishii N, Kakishita M, et al. Site-specific arrhythmogenesis in patients with Brugada syndrome. J Cardiovasc Electrophysiol 2003;14:373-9.
Metagegevens
Titel
Diversity in cardiac sodium channel disease phenotype in transgenic mice carrying a single SCN5A mutation
Auteurs
C. A. Remme
A. O. Verkerk
A. A. M. Wilde
M. W. Veldkamp
J. M. T. de Bakker
C. R. Bezzina
Publicatiedatum
01-06-2007
Uitgeverij
Bohn Stafleu van Loghum
Gepubliceerd in
Netherlands Heart Journal / Uitgave 6/2007
Print ISSN: 1568-5888
Elektronisch ISSN: 1876-6250
DOI
https://doi.org/10.1007/BF03085988