SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups

Author:

Baruteau Alban-Elouen1234,Kyndt Florence4,Behr Elijah R1,Vink Arja S56,Lachaud Matthias4,Joong Anna7,Schott Jean-Jacques4,Horie Minoru8,Denjoy Isabelle9,Crotti Lia10,Shimizu Wataru1112,Bos Johan M131415,Stephenson Elizabeth A16,Wong Leonie1,Abrams Dominic J17,Davis Andrew M1819,Winbo Annika2021,Dubin Anne M21,Sanatani Shubhayan22,Liberman Leonardo7,Kaski Juan Pablo2324,Rudic Boris2526,Kwok Sit Yee27,Rieubland Claudine28,Tfelt-Hansen Jacob2930,Van Hare George F31,Guyomarc’h-Delasalle Béatrice4,Blom Nico A5,Wijeyeratne Yanushi D1,Gourraud Jean-Baptiste4,Le Marec Hervé4,Ozawa Junichi8,Fressart Véronique32,Lupoglazoff Jean-Marc33,Dagradi Federica10,Spazzolini Carla10,Aiba Takeshi11,Tester David J131415,Zahavich Laura A16,Beauséjour-Ladouceur Virginie17,Jadhav Mangesh18,Skinner Jonathan R2034,Franciosi Sonia22,Krahn Andrew D22,Abdelsayed Mena35,Ruben Peter C35,Yung Tak-Cheung27,Ackerman Michael J131415,Wilde Arthur A636,Schwartz Peter J10,Probst Vincent4

Affiliation:

1. Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Institute, St George’s University of London, London, UK

2. Department of Congenital Cardiology, Evelina London Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

3. M3C CHU de Nantes, Fédération des Cardiopathies Congénitales, Nantes, F-44000, France

4. L’institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France

5. Department of Pediatric Cardiology, Academic Medical Center, Amsterdam, The Netherlands

6. Department of Clinical and Experimental Cardiology, Heart Centre, Academic Medical Center, Amsterdam, The Netherlands

7. Division of Pediatric Cardiology, Morgan Stanley Children’s Hospital, New York Presbyterian Hospital, Columbia University Medical Center, New York, NY, USA

8. Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Sciences, Otsu, Japan

9. AP-HP, Hôpital Bichat, Service de Cardiologie, Université Denis Diderot, Paris, France

10. Center for Cardiac Arrhythmias of Genetic Origin, IRCCS Istituto Auxologico Italiano, Milano, Italy

11. Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan

12. Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan

13. Division of Heart Rhythm Services, Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA

14. Division of Pediatric Cardiology, Department of Pediatrics, Mayo Clinic, Rochester, MN, USA

15. Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA

16. The Hospital for Sick Children, Labbatt Family, Heart Centre, University of Toronto, Toronto, Canada

17. Inherited Cardiac Arrhythmia Program, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

18. Department of Cardiology, The Royal Children's Hospital, Melbourne, Australia

19. Murdoch Children’s Research Institute and University of Melbourne, Melbourne, Australia

20. Greenlane Paediatric and Congenital Cardiac Services, Starship Childrens Hospital, Auckland, New Zealand

21. Division of Pediatric Electrophysiology, Lucile Packard Children’s Hospital, Stanford University, Palo Alto, CA, USA

22. Divisions of Cardiology, Department of Pediatrics and Medicine, British Columbia Children’s Hospital, University of British Columbia, Vancouver, BC, Canada

23. Department of Cardiology, Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital for Children, London, UK

24. Institute of Cardiovascular Science, University College London, London, UK

25. Medical Faculty Mannheim of the University of Heidelberg, 1st Department of Medicine, Mannheim, Germany

26. DZHK (German Centre for Cardiovascular Research), Mannheim, Germany

27. Department of Paediatric Cardiology, Queen Mary Hospital, The University of Hong Kong, Hong Kong SAR, China

28. Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland

29. Faculty of Health and Medical Science, Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

30. Department of Forensic Medicine, Faculty of Medical Sciences, University of Copenhagen, Denmark

31. Division of Cardiology, Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO, USA

32. AP-HP, Hôpital Pitié Salpétrière, Service de Biologie Moléculaire, Paris, France

33. AP-HP, Hôpital Robert Debré, Service de Cardiologie Pédiatrique, Paris, France

34. Department of Paediatrics, Child and Youth Health, University of Auckland, Auckland, New Zealand

35. Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, Canada

36. Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia

Publisher

Oxford University Press (OUP)

Subject

Cardiology and Cardiovascular Medicine

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