Adult Alleles Brugada Syndrome / genetics Female Genetic Association Studies Genetic Predisposition to Disease Haploinsufficiency / genetics Humans Likelihood Functions Loss of Function Mutation / genetics Male Mutation / genetics NAV1.5 Voltage-Gated Sodium Channel / genetics Phenotype Risk Factors
Brugada syndrome genetics, human penetrance phenotype risk score

Journal

Circulation. Genomic and precision medicine
ISSN: 2574-8300
Titre abrégé: Circ Genom Precis Med
Pays: United States
ID NLM: 101714113

Informations de publication

Date de publication:
12 2020
Historique:
pubmed: 10 11 2020
medline: 27 10 2021
entrez: 9 11 2020
Statut: ppublish

Résumé

Brugada syndrome (BrS) is characterized by the type 1 Brugada ECG pattern. Pathogenic rare variants in Subjects with a spontaneous type 1 pattern or positive/negative drug challenge from cohorts harboring In the total population (n=312), BrS-GRS ≥4 risk alleles yielded an odds ratio of 4.15 for BrS phenotype ([95% CI, 1.45-11.85]; Common genetic variation is associated with variable expressivity of BrS phenotype in

Sections du résumé

BACKGROUND
Brugada syndrome (BrS) is characterized by the type 1 Brugada ECG pattern. Pathogenic rare variants in
METHODS
Subjects with a spontaneous type 1 pattern or positive/negative drug challenge from cohorts harboring
RESULTS
In the total population (n=312), BrS-GRS ≥4 risk alleles yielded an odds ratio of 4.15 for BrS phenotype ([95% CI, 1.45-11.85];
CONCLUSIONS
Common genetic variation is associated with variable expressivity of BrS phenotype in

Identifiants

DOI: 10.1161/CIRCGEN.120.002911 PMID: 33164571 PMC: PMC7748043
pubmed: 33164571
doi: 10.1161/CIRCGEN.120.002911
pmc: PMC7748043
doi:

Substances chimiques

NAV1.5 Voltage-Gated Sodium Channel 0
SCN5A protein, human 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e002911

Subventions

Organisme : British Heart Foundation
ID : PG/15/107/31908
Pays : United Kingdom
Organisme : British Heart Foundation
ID : FS/11/71/28918
Pays : United Kingdom
Organisme : Medical Research Council
Pays : United Kingdom

Références

J Am Coll Cardiol. 2018 Mar 20;71(11):1204-1214
pubmed: 29544603
Heart Rhythm. 2015 Jul;12(7):1584-94
pubmed: 25998140
Circ Cardiovasc Genet. 2009 Dec;2(6):552-7
pubmed: 20031634
Eur Heart J. 2018 Nov 21;39(44):3970-3972
pubmed: 30188985
J Am Heart Assoc. 2016 Jul 05;5(7):
pubmed: 27381756
Eur Heart J. 2019 Oct 1;40(37):3097-3107
pubmed: 31504448
Eur Heart J. 2018 Aug 14;39(31):2879-2887
pubmed: 30059973
Heart Rhythm. 2010 Jan;7(1):33-46
pubmed: 20129283
Eur Heart J. 2018 Nov 21;39(44):3925-3931
pubmed: 30215713
Heart Rhythm. 2013 Dec;10(12):1932-63
pubmed: 24011539
Heart Rhythm. 2005 May;2(5):507-17
pubmed: 15840476
Circ Res. 2005 Apr 15;96(7):800-7
pubmed: 15761194
Nat Genet. 2013 Sep;45(9):1044-9
pubmed: 23872634
Heart Rhythm. 2016 Oct;13(10):e295-324
pubmed: 27423412
J Clin Invest. 2008 Jun;118(6):2219-29
pubmed: 18451998

Auteurs

Yanushi D Wijeyeratne (YD)

Molecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).

Michael W Tanck (MW)

Departments of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam Public Health (M.W.T.).

Yuka Mizusawa (Y)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC (Y.M., R.T., D.S.-M., E.A.N., A.A.M.W., C.R.B.), University of Amsterdam, the Netherlands.

Velislav Batchvarov (V)

Molecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).

Julien Barc (J)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
l'institut du thorax, INSERM, CNRS, UNIV Nantes, France (J.B., J.-J.S., J.-B.G., R.R., F.K.).

Lia Crotti (L)

Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics (L.C., F.D., S.C., M.T., P.J.S.), Milan, Italy.
Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital and Department of Medicine and Surgery, University of Milano-Bicocca, Istituto Auxologico Italiano, IRCCS, Milan, Italy (L.C.).

J Martijn Bos (JM)

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (J.M.B., D.J.T., M.J.A.).

David J Tester (DJ)

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (J.M.B., D.J.T., M.J.A.).

Alison Muir (A)

Belfast Health & Social Care Trust, United Kingdom (A.M., P.P.M.).

Christian Veltmann (C)

Rhythmology and Electrophysiology, Department of Cardiology and Angiology, Hannover Medical School, Germany (C.V.).

Seiko Ohno (S)

Shiga University of Medical Science (S.O., M.H.).
National Cerebral and Cardiovascular Center, Osaka, Japan (S.O., T.I., W.S., N.M., T.A.).

Stephen P Page (SP)

Leeds Teaching Hospitals NHS Trust, United Kingdom (S.P.P.).

Joseph Galvin (J)

Mater University and Private Hospitals, Dublin, Ireland (J.G.).

Rafik Tadros (R)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC (Y.M., R.T., D.S.-M., E.A.N., A.A.M.W., C.R.B.), University of Amsterdam, the Netherlands.

Martina Muggenthaler (M)

Molecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).

Hariharan Raju (H)

Molecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).

Isabelle Denjoy (I)

AP-HP, Hôpital Bichat, Dépt de Cardiologie et Ctr de Référence des Maladies Cardiaques Héréditaires, Univ Paris Diderot, Sorbonne Paris Cité, Paris, France INSERM U1166 (I.D.).

Jean-Jacques Schott (JJ)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
l'institut du thorax, INSERM, CNRS, UNIV Nantes, France (J.B., J.-J.S., J.-B.G., R.R., F.K.).
CHU Nantes, Service de Génétique Médicale (J.-J.S., J.-B.G., R.R.).

Jean-Baptiste Gourraud (JB)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
l'institut du thorax, INSERM, CNRS, UNIV Nantes, France (J.B., J.-J.S., J.-B.G., R.R., F.K.).
CHU Nantes, Service de Génétique Médicale (J.-J.S., J.-B.G., R.R.).

Doris Skoric-Milosavljevic (D)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC (Y.M., R.T., D.S.-M., E.A.N., A.A.M.W., C.R.B.), University of Amsterdam, the Netherlands.

Eline A Nannenberg (EA)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC (Y.M., R.T., D.S.-M., E.A.N., A.A.M.W., C.R.B.), University of Amsterdam, the Netherlands.

Richard Redon (R)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
l'institut du thorax, INSERM, CNRS, UNIV Nantes, France (J.B., J.-J.S., J.-B.G., R.R., F.K.).
CHU Nantes, Service de Génétique Médicale (J.-J.S., J.-B.G., R.R.).

Michael Papadakis (M)

Molecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).

Florence Kyndt (F)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
l'institut du thorax, INSERM, CNRS, UNIV Nantes, France (J.B., J.-J.S., J.-B.G., R.R., F.K.).
l'institut du thorax, CHU Nantes, Service de Cardiologie, Nantes, France (F.K.).

Federica Dagradi (F)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics (L.C., F.D., S.C., M.T., P.J.S.), Milan, Italy.

Silvia Castelletti (S)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics (L.C., F.D., S.C., M.T., P.J.S.), Milan, Italy.

Margherita Torchio (M)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics (L.C., F.D., S.C., M.T., P.J.S.), Milan, Italy.

Thomas Meitinger (T)

Helmholtz Zentrum München, Institute of Human Genetics, Neuherberg (T.M., P.L.).
Technische Universität München, Institute of Human Genetics (T.M.).
DZHK (German Center for Cardiovascular Research), Partner Site Munich Heart Alliance, Germany (T.M.).

Peter Lichtner (P)

Helmholtz Zentrum München, Institute of Human Genetics, Neuherberg (T.M., P.L.).

Taisuke Ishikawa (T)

National Cerebral and Cardiovascular Center, Osaka, Japan (S.O., T.I., W.S., N.M., T.A.).

Arthur A M Wilde (AAM)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC (Y.M., R.T., D.S.-M., E.A.N., A.A.M.W., C.R.B.), University of Amsterdam, the Netherlands.

Kazuhiro Takahashi (K)

Kizawa memorial hospital, Gifu, Japan (K.T.).

Sanjay Sharma (S)

Molecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).

Dan M Roden (DM)

Vanderbilt University School of Medicine, Nashville, TN (D.M.R.).

Martin M Borggrefe (MM)

Department of Medicine, University Medical Center Mannheim (UMM), Faculty of Medicine Mannheim, University of Heidelberg, European Center for AngioScience (ECAS) & DZHK (German Center for Cardiovascular Research) partner site Heidelberg/Mannheim, Germany (M.M.B.).

Pascal P McKeown (PP)

Belfast Health & Social Care Trust, United Kingdom (A.M., P.P.M.).
Queen's University Belfast, United Kingdom (P.P.M.).

Wataru Shimizu (W)

National Cerebral and Cardiovascular Center, Osaka, Japan (S.O., T.I., W.S., N.M., T.A.).
Nippon Medical School, Tokyo, Japan (W.S.).

Minoru Horie (M)

Shiga University of Medical Science (S.O., M.H.).

Naomasa Makita (N)

National Cerebral and Cardiovascular Center, Osaka, Japan (S.O., T.I., W.S., N.M., T.A.).

Takeshi Aiba (T)

National Cerebral and Cardiovascular Center, Osaka, Japan (S.O., T.I., W.S., N.M., T.A.).

Michael J Ackerman (MJ)

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (J.M.B., D.J.T., M.J.A.).

Peter J Schwartz (PJ)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics (L.C., F.D., S.C., M.T., P.J.S.), Milan, Italy.

Vincent Probst (V)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Reference Center for hereditary arrhythmic diseases, Cardiologic Department and INSERM U1087, L'Institut du Thorax, Nantes, France (V.P.).

Connie R Bezzina (CR)

European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC (Y.M., R.T., D.S.-M., E.A.N., A.A.M.W., C.R.B.), University of Amsterdam, the Netherlands.

Elijah R Behr (ER)

Molecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
European Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte ›
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles ›
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndrome de Brugada ›
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques ›
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie ›
questionsmedicales.fr › Phénomènes génétiques › Génotype › Dosage génique › Haploinsuffisance ›
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains ›
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Fonctions de vraisemblance ›
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation perte de fonction ›
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation ›
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Canaux sodiques voltage-dépendants › Canal sodique voltage-dépendant NAV1.5 ›
questionsmedicales.fr › Phénomènes génétiques › Phénotype ›
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Facteurs de risque ›