Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

Author:

Kasperavičiūtė Dalia1,Catarino Claudia B.12,Matarin Mar1,Leu Costin1,Novy Jan12,Tostevin Anna12,Leal Bárbara34,Hessel Ellen V. S.5,Hallmann Kerstin67,Hildebrand Michael S.8,Dahl Hans-Henrik M.8,Ryten Mina910,Trabzuni Daniah91011,Ramasamy Adaikalavan91012,Alhusaini Saud1314,Doherty Colin P.15,Dorn Thomas16,Hansen Jörg16,Krämer Günter16,Steinhoff Bernhard J.17,Zumsteg Dominik18,Duncan Susan19,Kälviäinen Reetta K.2021,Eriksson Kai J.22,Kantanen Anne-Mari20,Pandolfo Massimo23,Gruber-Sedlmayr Ursula24,Schlachter Kurt25,Reinthaler Eva M.26,Stogmann Elisabeth26,Zimprich Fritz26,Théâtre Emilie2728,Smith Colin29,O’Brien Terence J.3031,Meng Tan K.3031,Petrovski Slave303132,Robbiano Angela33,Paravidino Roberta33,Zara Federico33,Striano Pasquale34,Sperling Michael R.35,Buono Russell J.36,Hakonarson Hakon37,Chaves João38,Costa Paulo P.3439,Silva Berta M.34,da Silva António M.438,de Graan Pierre N. E.5,Koeleman Bobby P. C.40,Becker Albert41,Schoch Susanne41,von Lehe Marec42,Reif Philipp S.43,Rosenow Felix43,Becker Felicitas44,Weber Yvonne44,Lerche Holger44,Rössler Karl45,Buchfelder Michael45,Hamer Hajo M.46,Kobow Katja47,Coras Roland47,Blumcke Ingmar47,Scheffer Ingrid E.84849,Berkovic Samuel F.8,Weale Michael E.12,Delanty Norman1350,Depondt Chantal23,Cavalleri Gianpiero L.13,Kunz Wolfram S.67,Sisodiya Sanjay M.12,

Affiliation:

1. 1 NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK

2. 2 Epilepsy Society, Chalfont-St-Peter, SL9 0RJ, UK

3. 3 Immunogenetics Laboratory, University of Porto, 4050-313 Porto, Portugal

4. 4 UMIB - Instituto Ciências Biomédicas Abel Salazar, University of Porto, 4099-003 Porto, Portugal

5. 5 Rudolf Magnus Institute of Neuroscience, Department of Neuroscience and Pharmacology, University Medical Centre Utrecht, 3584 CG Utrecht, The Netherlands

6. 6 Department of Epileptology, University of Bonn, 53105 Bonn, Germany

7. 7 Life & Brain Centre, University of Bonn, 53105 Bonn, Germany

8. 8 Epilepsy Research Centre, Austin Health, University of Melbourne, Melbourne VIC 3084, Australia

9. 9 Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK

10. 10 Reta Lila Weston Institute, UCL Institute of Neurology, London, WC1N 3BG, UK

11. 11 Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia

12. 12 Department of Medical and Molecular Genetics, King’s College London, Guy's Hospital, London, SE1 9RT, UK

13. 13 Molecular and Cellular Therapeutics Department, Royal College of Surgeons in Ireland, Dublin 2, Ireland

14. 14 Brain Morphometry Laboratory, Neurophysics Department, Beaumont Hospital, Dublin 9, Ireland

15. 15 Department of Neurology, St James’ Hospital, Dublin 8, Ireland

16. 16 Swiss Epilepsy Centre, 8008 Zurich, Switzerland

17. 17 Kork Epilepsy Centre, 77694 Kehl-Kork, Germany

18. 18 Department of Neurology, University Hospital Zurich, 8091 Zurich, Switzerland

19. 19 Edinburgh and South East Scotland Epilepsy Service, Western General Hospital Edinburgh, EH4 2XU, Scotland, UK

20. 20 Kuopio Epilepsy Centre, Kuopio University Hospital, 70211 Kuopio, Finland

21. 21 Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland, 70211 Kuopio, Finland

22. 22 Paediatric Neurology Unit, Tampere University Hospital and Paediatric Research Centre, University of Tampere, 33521 Tampere, Finland

23. 23 Department of Neurology, Hôpital Erasme, Université Libre de Bruxelles, 1070 Brussels, Belgium

24. 24 Department of Paediatrics, Medical University of Graz, 8036 Graz, Austria

25. 25 Department of Paediatrics, LKH Bregenz, 6900 Bregenz, Austria

26. 26 Department of Clinical Neurology, Medical University of Vienna, 1090 Vienna, Austria

27. 27 Groupe Interdisciplinaire de Génoprotéomique Appliquée (GIGA-R) and Faculty of Veterinary Medicine, University of Liège, 4000 Liège, Belgium

28. 28 Unit of Gastroenterology, Centre Hospitalier Universitaire, University of Liège, 4000 Liège, Belgium

29. 29 Department of Neuropathology, MRC Sudden Death Brain Bank Project, University of Edinburgh, Wilkie Building, Edinburgh, EH8 9AG, UK

30. 30 Departments of Medicine and Neurology, Royal Melbourne Hospital, University of Melbourne, Melbourne VIC 3050, Australia

31. 31 Melbourne Brain Centre, University of Melbourne, Melbourne VIC 3084, Australia

32. 32 Department of Medicine, Austin Health, University of Melbourne, Melbourne VIC 3084, Australia

33. 33 Department of Neurosciences, Laboratory of Neurogenetics, University of Genoa, ‘G. Gaslini’ Institute, 16147 Genova, Italy

34. 34 Paediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, ‘G. Gaslini’ Institute, 16147 Genova, Italy

35. 35 Department of Neurology, Thomas Jefferson University, Philadelphia, PA 19107, USA

36. 36 Department of Biomedical Science, Cooper Medical School of Rowan University, Camden, NJ 08103, USA

37. 37 Centre for Applied Genomics, The Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104-4318, USA

38. 38 Department of Neurological Disorders and Senses, Hospital Santo António / Centro Hospitalar do Porto, 4099-001 Porto, Portugal

39. 39 Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA), 4049-019 Porto, Portugal

40. 40 Department of Medical Genetics, University Medical Centre Utrecht, 3584 CG Utrecht, The Netherlands

41. 41 Department of Neuropathology, University of Bonn, 53105 Bonn, Germany

42. 42 Department of Neurosurgery, University of Bochum, 44892 Bochum, Germany

43. 43 Epilepsy-Centre Hessen, Department of Neurology, University Hospitals and Philipps-University Marburg, 35043 Marburg, Germany

44. 44 Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany

45. 45 Department of Neurosurgery, University Hospital Erlangen, 91054 Erlangen, Germany

46. 46 Department of Neurology, Epilepsy Centre, University Hospital Erlangen, 91054 Erlangen, Germany

47. 47 Department of Neuropathology, University Hospital Erlangen, 91054 Erlangen, Germany

48. 48 Florey Institute of Neuroscience and Mental Health, Melbourne VIC 3010, Australia

49. 49 Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Melbourne VIC 3052, Australia

50. 50 Department of Neurology, Beaumont Hospital, Dublin 9, Ireland

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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