The E 1784 K mutation in SCN 5 A is associated with mixed clinical phenotype of type 3 long QT syndrome

1Department of Cardiovascular Medicine, Hokkaido University Graduate School of Medicine, Sapporo, Japan. 2Cardiology and Cardiological Sciences, St. George’s University of London, London, United Kingdom. 3Division of Cardiology, National Cardiovascular Center, Suita, Japan. 4Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan. 5Department of Pharmaceutical Sciences, International University of Health and Welfare, Ohtawara, Japan. 6Section of Cardiology, Department of Lung, Blood and Heart, University of Pavia, and Department of Cardiology and Molecular Cardiology Laboratory, IRCCS Fondazione Policlinico S. Matteo, Pavia, Italy. 7Department of Cardiology and Angiology, University Hospital of Muenster, and Leibniz Institute for Arteriosclerosis Research at the University of Muenster, Muenster, Germany. 8Department of Structural Analysis, National Cardiovascular Center Research Institute, Suita, Japan. 9Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan. 10Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark. 11Institute of Clinical Science, Queen’s University Belfast and Royal Victoria Hospital, Belfast, United Kingdom. 12Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico, Milan, Italy. 13Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research, Department of Medicine, University of Cape Town, Cape Town, South Africa. 14Department of Pharmacology and Department of Medicine, Vanderbilt University, Nashville, Tennessee, USA.

[1]  R. Ariagno.  Cardiac Sodium Channel Dysfunction in Sudden Infant Death Syndrome , 2008 .

[2]  J. Stockman.  Genetic Testing in the Long QT Syndrome: Development and Validation of an Efficient Approach to Genotyping in Clinical Practice , 2007 .

[3]  Halina Dobrzynski,et al.  Differential Expression of Ion Channel Transcripts in Atrial Muscle and Sinoatrial Node in Rabbit , 2006, Circulation research.

[4]  P. Schwartz.  The congenital long QT syndromes from genotype to phenotype: clinical implications , 2006, Journal of internal medicine.

[5]  A. Moss,et al.  Safety and Efficacy of Flecainide in Subjects with Long QT‐3 Syndrome (ΔKPQ Mutation): A Randomized, Double‐Blind, Placebo‐Controlled Clinical Trial , 2005, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

[6]  D. Tester,et al.  Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. , 2005, Heart rhythm.

[7]  P. C. Viswanathan,et al.  LQT 3 Mutant New Mechanism Contributing to Drug-Induced Arrhythmia : Rescue of a Misprocessed , 2005 .

[8]  N. Makita,et al.  Unexpected mexiletine responses of a mutant cardiac Na+ channel implicate the selectivity filter as a structural determinant of antiarrhythmic drug access. , 2004, Molecular pharmacology.

[9]  A. George,et al.  Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). , 2003, The Journal of clinical investigation.

[10]  A. Wilde,et al.  Contribution of Sodium Channel Mutations to Bradycardia and Sinus Node Dysfunction in LQT3 Families , 2003, Circulation research.

[11]  W. Catterall,et al.  An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[12]  M. Horie,et al.  Drug-Induced Long-QT Syndrome Associated With a Subclinical SCN5A Mutation , 2002, Circulation.

[13]  P. C. Viswanathan,et al.  Gating-Dependent Mechanisms for Flecainide Action in SCN5A-Linked Arrhythmia Syndromes , 2001, Circulation.

[14]  A. Shrier,et al.  Novel Mechanism for Brugada Syndrome: Defective Surface Localization of an SCN5A Mutant(R1432G) , 2001, Circulation research.

[15]  A. Wilde,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 , 2001, Journal of cardiovascular electrophysiology.

[16]  J. Balser,et al.  The cardiac sodium channel: gating function and molecular pharmacology. , 2001, Journal of molecular and cellular cardiology.

[17]  C. Antzelevitch.  The Brugada Syndrome: Ionic Basis and Arrhythmia Mechanisms , 2001, Journal of cardiovascular electrophysiology.

[18]  J. Balser,et al.  Enhanced Na(+) channel intermediate inactivation in Brugada syndrome. , 2000, Circulation research.

[19]  A J Moss,et al.  Spectrum of Mutations in Long-QT Syndrome Genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 , 2000, Circulation.

[20]  S. Priori,et al.  The Elusive Link Between LQT3 and Brugada Syndrome: The Role of Flecainide Challenge , 2000, Circulation.

[21]  P. C. Viswanathan,et al.  Two distinct congenital arrhythmias evoked by a multidysfunctional Na(+) channel. , 2000, Circulation research.

[22]  J. Balser,et al.  A revised view of cardiac sodium channel "blockade" in the long-QT syndrome. , 2000, The Journal of clinical investigation.

[23]  B. Kerem,et al.  Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome? , 2000, Circulation.

[24]  P. Guicheney,et al.  Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. , 2000, Cardiovascular research.

[25]  J. Towbin,et al.  Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts. , 2000, Circulation.

[26]  C. January,et al.  Preferential block of late sodium current in the LQT3 DeltaKPQ mutant by the class I(C) antiarrhythmic flecainide. , 2000, Molecular pharmacology.

[27]  A. Wilde,et al.  A single Na(+) channel mutation causing both long-QT and Brugada syndromes. , 1999, Circulation research.

[28]  A. Wilde,et al.  Cardiac conduction defects associate with mutations in SCN5A , 1999, Nature Genetics.

[29]  D M Roden,et al.  Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. , 1999, Circulation.

[30]  G. Breithardt,et al.  Genetic basis and molecular mechanism for idiopathic ventricular fibrillation , 1998, Nature.

[31]  P. Schwartz,et al.  The long QT syndrome. , 1997, Current problems in cardiology.

[32]  Z. Li,et al.  Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. , 1996, Genomics.

[33]  Y. Aizawa,et al.  Autonomic and antiarrhythmic drug modulation of ST segment elevation in patients with Brugada syndrome. , 1996, Journal of the American College of Cardiology.

[34]  M. Keating,et al.  The long QT syndrome. A review of recent molecular genetic and physiologic discoveries. , 1996, Medicine.

[35]  S. Priori,et al.  Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. , 1995, Circulation.

[36]  A. Moss,et al.  ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. , 1995, Circulation.

[37]  A. George,et al.  Molecular mechanism for an inherited cardiac arrhythmia , 1995, Nature.

[38]  T. Scheuer,et al.  Functional co-expression of the beta 1 and type IIA alpha subunits of sodium channels in a mammalian cell line. , 1995, The Journal of biological chemistry.

[39]  R. Tsien,et al.  Renoprotective Benefit of Tolvaptan in Acute Decompensated Heart Failure Patients With Loop Diuretic-Resistant Status , 2018, Journal of clinical medicine research.