List of works - Vincent Probst

Sudden cardiac arrest associated with early repolarization

scientific article published in May 2008

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

scientific article

Cardiac conduction defects associate with mutations in SCN5A

scientific article

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

scientific article

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

scientific article

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

scientific article

NovelSCN5AMutation Leading Either to Isolated Cardiac Conduction Defect or Brugada Syndrome in a Large French Family

scientific article published on December 18, 2001

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

scientific article published on 26 December 2006

2018 ESC Guidelines for the diagnosis and management of syncope

article by Michele Brignole et al published 19 March 2018 in European Heart Journal

Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome

scientific article published on 10 January 2005

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

scientific article

Long-term follow-up of patients with short QT syndrome

scientific article published in August 2011

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

scientific article

Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org)

scientific article

Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients

scientific article published on 01 July 2002

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

scientific article published on 29 September 2009

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

scientific article

Outcome after implantation of a cardioverter-defibrillator in patients with Brugada syndrome: a multicenter study

scientific article published on 20 November 2006

Characteristics of recurrent ventricular fibrillation associated with inferolateral early repolarization role of drug therapy

scientific article published in February 2009

Defects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation

scientific article

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

scientific article published on 11 November 2008

MOG1: a new susceptibility gene for Brugada syndrome

scientific article published on 29 March 2011

Mitral valve disease--morphology and mechanisms

scientific article

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

scientific article

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel

scientific article

Outcome after implantation of a cardioverter-defibrillator in patients with Brugada syndrome: a multicenter study-part 2.

scientific article published on 30 August 2013

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease

scientific article published on 01 February 2003

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

scientific article published on 17 February 2015

Programmed Ventricular Stimulation for Risk Stratification in the Brugada Syndrome: A Pooled Analysis

scientific article published on 21 January 2016

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

article

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

scientific article

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

scientific article published on 24 August 2015

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance

scientific article

Prevalence and prognostic role of various conduction disturbances in patients with the Brugada syndrome

scientific article published on 3 September 2013

A connexin40 mutation associated with a malignant variant of progressive familial heart block type I

scientific article

Increased Tpeak-Tend interval is highly and independently related to arrhythmic events in Brugada syndrome.

scientific article

Response to intravenous ajmaline: a retrospective analysis of 677 ajmaline challenges

scientific article published on 9 July 2009

Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation

scientific article published on 01 March 2006

Identification of large families in early repolarization syndrome

scientific article published in January 2013

Valvular dystrophy associated filamin A mutations reveal a new role of its first repeats in small-GTPase regulation

scientific article

Prevalence of early repolarization pattern in inferolateral leads in patients with Brugada syndrome

scientific article published on 23 September 2008

Remote implantable cardioverter defibrillator monitoring in a Brugada syndrome population

scientific article published on 14 February 2009

Prevalence, characteristics, and prognosis role of type 1 ST elevation in the peripheral ECG leads in patients with Brugada syndrome.

scientific article published on 14 March 2013

Usefulness of fetuin-A and C-reactive protein concentrations for prediction of outcome in acute coronary syndromes (from the French Registry of Acute ST-Elevation Non-ST-Elevation Myocardial Infarction [FAST-MI]).

scientific article published on 9 October 2012

Familial aggregation of calcific aortic valve stenosis in the western part of France

scientific article published on 06 February 2006

Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation

scientific article published on 17 July 2013

Are women with severely symptomatic brugada syndrome different from men?

scientific article

Prognostic significance of fever-induced Brugada syndrome.

scientific article

Impact of clinical and genetic findings on the management of young patients with Brugada syndrome

scientific article published on 24 February 2016

List of works by Vincent Probst

Sudden cardiac arrest associated with early repolarization

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Cardiac conduction defects associate with mutations in SCN5A

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

NovelSCN5AMutation Leading Either to Isolated Cardiac Conduction Defect or Brugada Syndrome in a Large French Family

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

2018 ESC Guidelines for the diagnosis and management of syncope

Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

Long-term follow-up of patients with short QT syndrome

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org)

Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

Outcome after implantation of a cardioverter-defibrillator in patients with Brugada syndrome: a multicenter study

Characteristics of recurrent ventricular fibrillation associated with inferolateral early repolarization role of drug therapy

Defects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

MOG1: a new susceptibility gene for Brugada syndrome

Mitral valve disease--morphology and mechanisms

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel

Outcome after implantation of a cardioverter-defibrillator in patients with Brugada syndrome: a multicenter study-part 2.

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

Programmed Ventricular Stimulation for Risk Stratification in the Brugada Syndrome: A Pooled Analysis

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance

Prevalence and prognostic role of various conduction disturbances in patients with the Brugada syndrome

A connexin40 mutation associated with a malignant variant of progressive familial heart block type I

Increased Tpeak-Tend interval is highly and independently related to arrhythmic events in Brugada syndrome.

Response to intravenous ajmaline: a retrospective analysis of 677 ajmaline challenges

Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation

Identification of large families in early repolarization syndrome

Valvular dystrophy associated filamin A mutations reveal a new role of its first repeats in small-GTPase regulation

Prevalence of early repolarization pattern in inferolateral leads in patients with Brugada syndrome

Remote implantable cardioverter defibrillator monitoring in a Brugada syndrome population

Prevalence, characteristics, and prognosis role of type 1 ST elevation in the peripheral ECG leads in patients with Brugada syndrome.

Usefulness of fetuin-A and C-reactive protein concentrations for prediction of outcome in acute coronary syndromes (from the French Registry of Acute ST-Elevation Non-ST-Elevation Myocardial Infarction [FAST-MI]).

Familial aggregation of calcific aortic valve stenosis in the western part of France

Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation

Are women with severely symptomatic brugada syndrome different from men?

Prognostic significance of fever-induced Brugada syndrome.

Impact of clinical and genetic findings on the management of young patients with Brugada syndrome