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SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Wijeyeratne, Yanushi D; Tanck, Michael W; Mizusawa, Yuka; Batchvarov, Velislav; Barc, Julien; Crotti, Lia; Bos, J Martijn; Tester, David J; Muir, Alison; Veltmann, Christian; Ohno, Seiko; Page, Stephen P; Galvin, Joseph; Tadros, Rafik; Muggenthaler, Martina; Raju, Hariharan; Denjoy, Isabelle; Schott, Jean-Jacques; Gourraud, Jean-Baptiste; Skoric-Milosavljevic, Doris; Nannenberg, Eline A; Redon, Richard; Papadakis, Michael; Kyndt, Florence; Dagradi, Federica; Castelletti, Silvia; Torchio, Margherita; Meitinger, Thomas; Lichtner, Peter; Ishikawa, Taisuke; Wilde, Arthur A M; Takahashi, Kazuhiro; Sharma, Sanjay; Roden, Dan M; Borggrefe, Martin M; McKeown, Pascal P; Shimizu, Wataru; Horie, Minoru; Makita, Naomasa; Aiba, Takeshi; Ackerman, Michael J; Schwartz, Peter J; Probst, Vincent; Bezzina, Connie R; Behr, Elijah R.
Afiliación
  • 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.).
  • Tanck MW; 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.).
  • Mizusawa Y; Departments of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam Public Health (M.W.T.).
  • Batchvarov 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.).
  • Barc J; 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.
  • Crotti L; 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.).
  • Bos JM; 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.).
  • Tester DJ; 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.).
  • Muir A; l'institut du thorax, INSERM, CNRS, UNIV Nantes, France (J.B., J.-J.S., J.-B.G., R.R., F.K.).
  • Veltmann C; 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.
  • Ohno S; 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.).
  • Page SP; 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
  • Galvin J; 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
  • Tadros R; Belfast Health & Social Care Trust, United Kingdom (A.M., P.P.M.).
  • Muggenthaler M; Rhythmology and Electrophysiology, Department of Cardiology and Angiology, Hannover Medical School, Germany (C.V.).
  • Raju H; Shiga University of Medical Science (S.O., M.H.).
  • Denjoy I; National Cerebral and Cardiovascular Center, Osaka, Japan (S.O., T.I., W.S., N.M., T.A.).
  • Schott JJ; Leeds Teaching Hospitals NHS Trust, United Kingdom (S.P.P.).
  • Gourraud JB; Mater University and Private Hospitals, Dublin, Ireland (J.G.).
  • 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.).
  • Nannenberg EA; 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.
  • Redon R; 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.).
  • Papadakis 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.).
  • Kyndt F; 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.).
  • 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.).
  • Castelletti S; 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.).
  • 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.).
  • Meitinger T; l'institut du thorax, INSERM, CNRS, UNIV Nantes, France (J.B., J.-J.S., J.-B.G., R.R., F.K.).
  • Lichtner P; CHU Nantes, Service de Génétique Médicale (J.-J.S., J.-B.G., R.R.).
  • Ishikawa T; 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.).
  • Wilde AAM; l'institut du thorax, INSERM, CNRS, UNIV Nantes, France (J.B., J.-J.S., J.-B.G., R.R., F.K.).
  • Takahashi K; CHU Nantes, Service de Génétique Médicale (J.-J.S., J.-B.G., R.R.).
  • Sharma 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.).
  • Roden DM; 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.
  • Borggrefe MM; 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.).
  • McKeown PP; 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.
  • Shimizu W; 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.).
  • Horie M; l'institut du thorax, INSERM, CNRS, UNIV Nantes, France (J.B., J.-J.S., J.-B.G., R.R., F.K.).
  • Makita N; CHU Nantes, Service de Génétique Médicale (J.-J.S., J.-B.G., R.R.).
  • Aiba T; 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.).
  • Ackerman MJ; 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.).
  • 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.).
  • Probst V; l'institut du thorax, INSERM, CNRS, UNIV Nantes, France (J.B., J.-J.S., J.-B.G., R.R., F.K.).
  • Bezzina CR; l'institut du thorax, CHU Nantes, Service de Cardiologie, Nantes, France (F.K.).
  • Behr ER; 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.).
Circ Genom Precis Med ; 13(6): e002911, 2020 12.
Article en En | MEDLINE | ID: mdl-33164571
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Síndrome de Brugada / Canal de Sodio Activado por Voltaje NAV1.5 / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Circ Genom Precis Med Año: 2020 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Síndrome de Brugada / Canal de Sodio Activado por Voltaje NAV1.5 / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Circ Genom Precis Med Año: 2020 Tipo del documento: Article