De novo mutation in the SCN5A gene associated with early onset of sudden infant death.

PubWeight™: 1.88‹?› | Rank: Top 3%

🔗 View Article (PMID 11535573)

Published in Circulation on September 04, 2001

Authors

H Wedekind1, J P Smits, E Schulze-Bahr, R Arnold, M W Veldkamp, T Bajanowski, M Borggrefe, B Brinkmann, I Warnecke, H Funke, Z A Bhuiyan, A A Wilde, G Breithardt, W Haverkamp

Author Affiliations

1: Department of Cardiology, University of Münster, Germany. hwede@uni-muenster.de

Articles citing this

Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel. Circ Arrhythm Electrophysiol (2008) 1.53

Cardiac sodium channelopathies. Pflugers Arch (2009) 1.44

A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response. PLoS One (2007) 1.26

J-wave syndromes: Brugada and early repolarization syndromes. Heart Rhythm (2015) 1.14

Long QT syndrome and life threatening arrhythmia in a newborn: molecular diagnosis and treatment response. Heart (2004) 1.13

Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia. Heart Rhythm (2011) 1.11

A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death. Circ Cardiovasc Genet (2010) 1.04

Autonomic modulation and antiarrhythmic therapy in a model of long QT syndrome type 3. Cardiovasc Res (2010) 1.03

Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects. J Physiol (2013) 1.02

Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study. Int J Legal Med (2005) 1.01

Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique. J Physiol (2005) 0.95

Pathological changes of the heart in sudden infant death. Int J Legal Med (2003) 0.94

Contribution of long-QT syndrome genetic variants in sudden infant death syndrome. Pediatr Cardiol (2009) 0.90

Cardiac arrhythmias and sudden death in infancy: implication for the medicolegal investigation. Int J Legal Med (2006) 0.88

Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia. Neuromolecular Med (2013) 0.87

J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge. Heart Rhythm (2016) 0.87

SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. Proc Natl Acad Sci U S A (2015) 0.86

Sudden infant death syndrome: do ion channels play a role? Heart Rhythm (2008) 0.85

Molecular Pathophysiology of Congenital Long QT Syndrome. Physiol Rev (2017) 0.85

Cardiac ion channelopathies and the sudden infant death syndrome. ISRN Cardiol (2012) 0.84

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia. Front Pediatr (2013) 0.81

Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome. Virchows Arch (2008) 0.79

Role of congenital long-QT syndrome in unexplained sudden infant death: proposal for an electrocardiographic screening in relatives. Eur J Pediatr (2009) 0.79

Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome. Am J Physiol Heart Circ Physiol (2013) 0.78

Mutational analysis of SCN5A gene in long QT syndrome. Meta Gene (2015) 0.78

Sudden death due to a haemoglobin variant. Int J Legal Med (2003) 0.77

Cardiac sodium channel gene mutations and sudden infant death syndrome: confirmation of proof of concept? Circulation (2001) 0.77

Is there a relation between SIDS and long QT syndrome? Arch Dis Child (2005) 0.76

Antenatal presentation of congenital long QT syndrome: A prenatal diagnosis not to be missed. Pediatr Cardiol (2008) 0.76

Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A. Can J Physiol Pharmacol (2011) 0.75

Sudden infant death syndrome and long QT syndrome: the zealots versus the naysayers. Heart Rhythm (2006) 0.75

Regulation of Na(+) channel inactivation by the DIII and DIV voltage-sensing domains. J Gen Physiol (2017) 0.75

J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge. J Arrhythm (2016) 0.75

A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG. PLoS One (2016) 0.75

Sudden infant death syndrome and inherited cardiac conditions. Nat Rev Cardiol (2017) 0.75

Articles by these authors

MIPS: analysis and annotation of proteins from whole genomes. Nucleic Acids Res (2004) 8.58

Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation (2001) 7.47

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature (1998) 7.26

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet (1999) 7.04

A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res (2000) 3.68

Metabolism of Styrene Oxide and 2-Phenylethanol in the Styrene-Degrading Xanthobacter Strain 124X. Appl Environ Microbiol (1989) 3.60

Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet (1998) 3.03

Diagnosis and long-term follow-up of the Brugada syndrome in patients with idiopathic ventricular fibrillation. Eur Heart J (2001) 3.02

Proposed diagnostic criteria for the Brugada syndrome. Eur Heart J (2002) 3.01

Task Force on Sudden Cardiac Death of the European Society of Cardiology. Eur Heart J (2001) 2.93

Reentry as a cause of ventricular tachycardia in patients with chronic ischemic heart disease: electrophysiologic and anatomic correlation. Circulation (1988) 2.86

The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes. Mol Psychiatry (2006) 2.80

Congenital heart disease among 160 480 liveborn children in Liverpool 1960 to 1969. Implications for surgical treatment. Br Heart J (1981) 2.80

Cardiac conduction defects associate with mutations in SCN5A. Nat Genet (1999) 2.73

A sodium-channel mutation causes isolated cardiac conduction disease. Nature (2001) 2.67

Harmonization of medico-legal autopsy rules. Committee of Ministers. Council of Europe. Int J Legal Med (1999) 2.65

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) 2.57

Long-term prognosis of patients diagnosed with Brugada syndrome: Results from the FINGER Brugada Syndrome Registry. Circulation (2010) 2.53

Short course acid suppressive treatment for patients with functional dyspepsia: results depend on Helicobacter pylori status. The Frosch Study Group. Gut (2000) 2.52

Guidelines for the diagnosis and treatment of neuroendocrine gastrointestinal tumours. A consensus statement on behalf of the European Neuroendocrine Tumour Society (ENETS). Neuroendocrinology (2005) 2.49

Heat injuries to the respiratory system. Virchows Arch A Pathol Anat Histol (1978) 2.49

Post-infarction depression and incomplete recovery 6 months after acute myocardial infarction. Lancet (1994) 2.39

Negative protein 1, which is required for function of the chicken lysozyme gene silencer in conjunction with hormone receptors, is identical to the multivalent zinc finger repressor CTCF. Mol Cell Biol (1997) 2.37

DNA recommendations. Further report of the DNA Commission of the ISFH regarding the use of short tandem repeat systems. International Society for Forensic Haemogenetics. Int J Legal Med (1997) 2.35

The conducting tissues in congenitally corrected transposition. Circulation (1974) 2.27

Two distinct congenital arrhythmias evoked by a multidysfunctional Na(+) channel. Circ Res (2000) 2.17

Hepatitis C virus infection is a risk factor for liver failure from veno-occlusive disease after bone marrow transplantation. Blood (1994) 2.16

Gastric emptying and release of incretin hormones after glucose ingestion in humans. J Clin Invest (1996) 2.10

xIAP induces cell-cycle arrest and activates nuclear factor-kappaB : new survival pathways disabled by caspase-mediated cleavage during apoptosis of human endothelial cells. Circ Res (2001) 2.10

Results of balloon pulmonary valvuloplasty as a palliative procedure in tetralogy of Fallot. J Am Coll Cardiol (1991) 2.10

Physicians' attitudes toward using deception to resolve difficult ethical problems. JAMA (1989) 2.09

Backspatter from experimental close-range shots to the head. I. Macrobackspatter. Int J Legal Med (1996) 2.08

Haematopoietic stem cell transplantation for patients with myelo-dysplastic syndromes and secondary acute myeloid leukaemias: a report on behalf of the Chronic Leukaemia Working Party of the European Group for Blood and Marrow Transplantation (EBMT). Br J Haematol (2000) 2.06

Clinical evaluation of no-carrier-added meta-[123I]iodobenzylguanidine for myocardial scintigraphy. Eur J Nucl Med (2000) 2.06

Glucagon-like peptide-1 and glucose-dependent insulin-releasing polypeptide plasma levels in response to nutrients. Digestion (1995) 2.05

Ventricular tachycardia in the infarcted, Langendorff-perfused human heart: role of the arrangement of surviving cardiac fibers. J Am Coll Cardiol (1990) 2.05

Glucagon-like peptide-1 cells in the gastrointestinal tract and pancreas of rat, pig and man. Eur J Clin Invest (1992) 2.00

A prognostic computer model to individually predict post-procedural complications in interventional cardiology: the INTERVENT Project. Eur Heart J (1999) 1.98

Quantification of secondary dentine formation from orthopantomograms--a contribution to forensic age estimation methods in adults. Int J Legal Med (2004) 1.95

The potential for QT prolongation and proarrhythmia by non-antiarrhythmic drugs: clinical and regulatory implications. Report on a policy conference of the European Society of Cardiology. Eur Heart J (2000) 1.92

Transcatheter occlusion of the patent ductus arteriosus with Cook detachable coils. Heart (1996) 1.91

KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet (1997) 1.90

Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection. Nucleic Acids Res (1993) 1.85

Effects of glucagon-like peptide-1(7-36)amide on antro-pyloro-duodenal motility in the interdigestive state and with duodenal lipid perfusion in humans. Gut (2000) 1.78

The combination of medical treatment plus multicomponent behavioral therapy is superior to medical treatment alone in the therapy of irritable bowel syndrome. Am J Gastroenterol (2000) 1.77

Risk of mortality, cancer incidence, and stroke in a population potentially exposed to cadmium. Occup Environ Med (2000) 1.77

Peripheral artery occlusive disease in chronic phase chronic myeloid leukemia patients treated with nilotinib or imatinib. Leukemia (2013) 1.77

Worldwide ethnic distribution of the G protein beta3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals. J Am Soc Nephrol (1999) 1.76

Lipoprotein(a) is an independent risk factor for myocardial infarction at a young age. Clin Chem (1990) 1.75

The Y chromosome pool of Jews as part of the genetic landscape of the Middle East. Am J Hum Genet (2001) 1.74

Transcriptional repression by the insulator protein CTCF involves histone deacetylases. Nucleic Acids Res (2000) 1.74

Incidence and clinical significance of left ventricular thrombus in tako-tsubo cardiomyopathy assessed with echocardiography. QJM (2008) 1.71

LocaLisa: new technique for real-time 3-dimensional localization of regular intracardiac electrodes. Circulation (1999) 1.71

Targeting the slow pathway for atrioventricular nodal reentrant tachycardia: initial results and long-term follow-up in 379 consecutive patients. Eur Heart J (2001) 1.71

The potential for QT prolongation and pro-arrhythmia by non-anti-arrhythmic drugs: clinical and regulatory implications. Report on a Policy Conference of the European Society of Cardiology. Cardiovasc Res (2000) 1.70

Treatment of Adult ALL according to protocols of the German Multicenter Study Group for Adult ALL (GMALL). Hematol Oncol Clin North Am (2000) 1.69

Exendin(9-39)amide is an antagonist of glucagon-like peptide-1(7-36)amide in humans. J Clin Invest (1998) 1.68

Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties. Acta Physiol Scand (2005) 1.67

Molecular diagnosis in a child with sudden infant death syndrome. Lancet (2001) 1.66

Cardiac angiosarcoma: case report and review of the literature. Z Kardiol (2005) 1.65

Living anatomy of the atrioventricular junctions. A guide to electrophysiologic mapping. A Consensus Statement from the Cardiac Nomenclature Study Group, Working Group of Arrhythmias, European Society of Cardiology, and the Task Force on Cardiac Nomenclature from NASPE. Circulation (1999) 1.64

Predictors of in-hospital mortality after DC catheter ablation of atrioventricular junction. Results of a prospective, international, multicenter study. Circulation (1991) 1.64

Influence of feeding and sham feeding upon serum gastrin and gastric acid secretion in control subjects and duodenal ulcer patients. Scand J Gastroenterol (1974) 1.63

Standards for analysis of ventricular late potentials using high-resolution or signal-averaged electrocardiography: a statement by a task force committee of the European Society of Cardiology, the American Heart Association, and the American College of Cardiology. J Am Coll Cardiol (1991) 1.63

A prognostic computer model to predict individual outcome in interventional cardiology. The INTERVENT Project. Eur Heart J (1997) 1.61

Efficacy of antiarrhythmic drugs in patients with arrhythmogenic right ventricular disease. Results in patients with inducible and noninducible ventricular tachycardia. Circulation (1992) 1.61

An anatomically and electrogram-guided stepwise approach for effective and safe catheter ablation of the fast pathway for elimination of atrioventricular node reentrant tachycardia. J Am Coll Cardiol (1995) 1.61

Impact of late incomplete stent apposition after sirolimus-eluting stent implantation on 4-year clinical events: intravascular ultrasound analysis from the multicentre, randomised, RAVEL, E-SIRIUS and SIRIUS trials. Heart (2007) 1.60

[Inadequate therapies with implantable cardioverter-defibrillators--incidence, etiology, predictive factors and preventive strategies]. Z Kardiol (1996) 1.59

A randomized controlled trial comparing hydration therapy to additional hemodialysis or N-acetylcysteine for the prevention of contrast medium-induced nephropathy: the Dialysis-versus-Diuresis (DVD) Trial. Clin Res Cardiol (2006) 1.59

Gene-specific differences in the circadian variation of ventricular repolarization in the long QT syndrome: a key to sudden death during sleep? Ital Heart J (2000) 1.59

Host-specific interleukin-2-secreting donor T-cell precursors as predictors of acute graft-versus-host disease in bone marrow transplantation between HLA-identical siblings. N Engl J Med (1992) 1.59

Living anatomy of the atrioventricular junctions. A guide to electrophysiological mapping. A Consensus Statement from the Cardiac Nomenclature Study Group, Working Group of Arrythmias, European Society of Cardiology, and the Task Force on Cardiac Nomenclature from NASPE. North American Society of Pacing and Electrophysiology. Eur Heart J (1999) 1.59

A short tandem repeat-based phylogeny for the human Y chromosome. Am J Hum Genet (2000) 1.58

Morphogenesis of bulboventricular malformations. I. Consideration of embryogenesis in the normal heart. Br Heart J (1974) 1.57

Effects of cell-to-cell uncoupling and catecholamines on Purkinje and ventricular action potentials: implications for phase-1b arrhythmias. Cardiovasc Res (2001) 1.57

A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype. J Mol Med (Berl) (2001) 1.56