Pitfalls in genetic testing: the story of missed SCN1A mutations

Author:

Djémié Tania12,Weckhuysen Sarah12345,von Spiczak Sarah6,Carvill Gemma L.7,Jaehn Johanna6,Anttonen Anna-Kaisa8910,Brilstra Eva11,Caglayan Hande S.12,de Kovel Carolien G.11,Depienne Christel3413,Gaily Eija14,Gennaro Elena15,Giraldez Beatriz G.1617,Gormley Padhraig18192021,Guerrero-López Rosa17,Guerrini Renzo22,Hämäläinen Eija2123,Hartmann Corinna6,Hernandez-Hernandez Laura2425,Hjalgrim Helle2627,Koeleman Bobby P. C.11,Leguern Eric3413,Lehesjoki Anna-Elina828,Lemke Johannes R.29,Leu Costin24,Marini Carla22,McMahon Jacinta M.30,Mei Davide22,Møller Rikke S.2627,Muhle Hiltrud6,Myers Candace T.7,Nava Caroline3413,Serratosa Jose M.1617,Sisodiya Sanjay M.2425,Stephani Ulrich6,Striano Pasquale31,van Kempen Marjan J. A.11,Verbeek Nienke E.11,Usluer Sunay12,Zara Federico32,Palotie Aarno1923,Mefford Heather C.7,Scheffer Ingrid E.303334,De Jonghe Peter1235,Helbig Ingo636,Suls Arvid1237,

Affiliation:

1. Neurogenetics group; Department of Molecular Genetics; VIB; Antwerp Belgium

2. Laboratory of Neurogenetics; Institute Born-Bunge; University of Antwerp; Antwerp Belgium

3. Sorbonne universités; UPMC université Paris 06; 91-105; boulevard de l'Hôpital; Paris 75013 France

4. ICM, CNRS UMR 7225, Inserm U 1127; 47/83, boulevard de l'Hôpital; Paris 75013 France

5. Centre de reference épilepsies rares; Epilepsy unit, AP-HP Groupe hospitalier Pitié-Salpêtrière; Paris 75013 France

6. Department of Neuropediatrics; University Medical Center Schleswig-Holstein; Kiel Germany

7. Division of Genetic Medicine; Department of Pediatrics; University of Washington; Seattle Washington 98195 USA

8. Folkhälsan Institute of Genetics; Helsinki Finland

9. Medical and Clinical Genetics; University of Helsinki; Helsinki Finland

10. Helsinki University Hospital; Helsinki Finland

11. Department of Medical Genetics; University Medical Center Utrecht; Utrecht The Netherlands

12. Department of Molecular Biology and Genetics; Bogaziçi University; Istanbul Turkey

13. Département de génétique; AP-HP, hôpital Pitié-Salpêtrière; 47/83 boulevard de l'Hôpital Paris 75013 France

14. Department of Pediatric Neurology; Helsinki University Hospital; Helsinki Finland

15. Laboratory of Genetics; E.O. Ospedali Galliera; Genova Italy

16. Neurology Laboratory and Epilepsy Unit; Department of Neurology; Instituto de Investigatión Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid; Madrid Spain

17. IIS-Fundación Jiménez Díaz and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Madrid Spain

18. Psychiatric and Neurodevelopmental Genetics Unit; Massachusetts General Hospital and Harvard Medical School; Boston Massachusetts 02114 USA

19. Program in Medical and Population Genetics; Broad Institute of MIT and Harvard; Cambridge Massachusetts 02142 USA

20. Stanley Center for Psychiatric Research; Broad Institute of MIT and Harvard; Cambridge Massachusetts 02142 USA

21. Wellcome Trust Sanger Institute; Hinxton United Kingdom

22. Pediatric Neurology and Neurogenetics Unit and Laboratories; A. Meyer Children's Hospital-University of Florence; Florence Italy

23. Institute for Molecular Medicine Finland FIMM; University of Helsinki; Helsinki Finland

24. Department of Clinical and Experimental Epilepsy; NIHR University College London Hospitals Biomedical Research Centre; UCL Institute of Neurology; London United Kingdom

25. The Epilepsy Society; Chalfont-St-Peter; Bucks United Kingdom

26. Department of Neurology; Danish Epilepsy Centre; Dianalund Denmark

27. Institute for Regional Health research; University of Southern Denmark; Odense Denmark

28. Research Programs Unit; Molecular Neurology; University of Helsinki; Helsinki Finland

29. Institute of Human Genetics; University of Leipzig; Leipzig Germany

30. Epilepsy Research Centre; Department of Medicine; University of Melbourne; Austin Health; Melbourne Australia

31. Pediatric Neurology and Muscular Diseases Unit; Department of Neurosciences; Rehabilitation; Ophthalmology; Genetics; and Maternal and Child Health; University of Genoa ‘G. Gaslini’ Institute; Genova Italy

32. Laboratory of Neurogenetics; Department of Neurosciences; Giannina Gaslini Institute; Genova Italy

33. Department of Paediatrics; University of Melbourne and Royal Children's Hospital; Parkville Victoria 3052 Australia

34. Florey Institute of Neuroscience and Mental Health; Melbourne Victoria 3084 Australia

35. Division of Neurology; Antwerp University Hospital; Antwerp; Belgium

36. Division of Neurology; Children's Hospital of Philadelphia; Philadelphia Pennsylvania USA

37. GENOMED; Center for Medical Genetics; University of Antwerp; Antwerp Belgium

Funder

Assistance Publique - Hôpitaux de Paris

Dravet Syndrome UK

Katy Baggott Foundation

Epilepsy Society

International Coordination Action

Seventh Framework Programme

UK Department of Health's NIHR Biomedical Research Centres

Folkhälsan Research Foundation

European Science Foundation

TUBITAK project

Kiel University, Germany

Institute of Science and Technology

Scientific Research Flanders

Investissements d'avenir

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

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