Defining the phenotypic spectrum ofSLC6A1mutations

Author:

Johannesen Katrine M.12,Gardella Elena12,Linnankivi Tarja3,Courage Carolina45,de Saint Martin Anne67,Lehesjoki Anna-Elina45,Mignot Cyril8,Afenjar Alexandra9,Lesca Gaetan101112,Abi-Warde Marie-Thérèse67,Chelly Jamel1314,Piton Amélie1314,Merritt J. Lawrence15,Rodan Lance H.1617,Tan Wen-Hann1617,Bird Lynne M.18,Nespeca Mark19,Gleeson Joseph G.20,Yoo Yongjin21,Choi Murim21,Chae Jong-Hee22,Czapansky-Beilman Desiree23,Reichert Sara Chadwick24,Pendziwiat Manuela25,Verhoeven Judith S.26,Schelhaas Helenius J.26,Devinsky Orrin27,Christensen Jakob28,Specchio Nicola29,Trivisano Marina29,Weber Yvonne G.30,Nava Caroline3132,Keren Boris3132,Doummar Diane33,Schaefer Elise34,Hopkins Sarah35,Dubbs Holly36,Shaw Jessica E.36,Pisani Laura36,Myers Candace T.15,Tang Sha37,Tang Shan38,Pal Deb K.38,Millichap John J.3940,Carvill Gemma L.40,Helbig Kathrine L.37,Mecarelli Oriano41,Striano Pasquale42ORCID,Helbig Ingo2535,Rubboli Guido143ORCID,Mefford Heather C.15,Møller Rikke S.12

Affiliation:

1. The Danish Epilepsy Center Filadelfia; Dianalund Denmark

2. Institute for Regional Health Services Research; University of Southern Denmark; Odense Denmark

3. Department of Child Neurology; Children's Hospital; Helsinki University Hospital Helsinki; University of Helsinki; Helsinki Finland

4. The Folkhälsan Institute of Genetics; University of Helsinki; Helsinki Finland

5. Research Programs Unit; Molecular Neurology and Neuroscience Center; Helsinki Finland

6. Department of Pediatrics; Pediatric Neurology; University Hospital of Strasbourg; Strasbourg France

7. Reference Center for Rare Epilepsies; Strasbourg France

8. Department of Genetics; Center for Rare causes of Intellectual Disabilities and UPMC Research Group “Intellectual Disabilities and Autism”; Paris France

9. APHP, Genetic Services; Hospital Trousseau; Paris France

10. Departments of Genetics; Lyon University Hospitals; Lyon France

11. Claude Bernard Lyon I University; Lyon France

12. Lyon Neuroscience Research Center; CNRS UMRS5292; INSERM U1028; Lyon France

13. Department of Translational Medicine and Neurogenetics; Institut Génétique Biologie Moléculaire Cellulaire (IGBMC); Illkirch France

14. Laboratory of Genetic Diagnosis; Hôpitaux Universitaires de Strasbourg; Strasbourg France

15. Division of Genetic Medicine; Department of Pediatrics; University of Washington; Seattle WA USA

16. Boston Children's Hospital; Boston MA USA

17. Harvard Medical School; Boston MA USA

18. Division of Genetics; Department of Pediatrics; Rady Children's Hospital San Diego; University of California San Diego; San Diego CA USA

19. Division of Neurology; Rady Children's Hospital; University of California; San Diego CA USA

20. Rady Children's Institute for Genomic Medicine; Howard Hughes Medical Institute; University of California; San Diego CA USA

21. Department of Biomedical Sciences; Seoul National University School of Medicine; Seoul South Korea

22. Department of Pediatrics; Seoul National University Children's Hospital; Seoul National University School of Medicine; Seoul South Korea

23. Pediatric Neurology; Gillette Children's Specialty Healthcare; Burnsville MN USA

24. Children's Minnesota; Minneapolis MN USA

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

26. Department of Neurology; Academic Center for Epileptology; Heeze The Netherlands

27. NYU Epilepsy Center; New York NY USA

28. Department of Neurology; Aarhus University Hospital; Aarhus Denmark

29. Neurology Unit; Department of Neuroscience; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

30. Department of Neurology and Epileptology; Hertie Institute for Clinical Brain Research; University of Tüebingen; Tüebingen Germany

31. Department of Genetics; La Pitié-Salpêtrière Hospital; Assistance Publique-Hôpitaux de Paris; Paris France

32. Sorbonne Universities; UPMC Univ Paris 06; UMR S 1127; Inserm U 1127; CNRS UMR 7225; ICM; Paris France

33. Assistance Publique-Hôpitaux de Paris; Neuropediatric Services; Hospital Armand Trousseau; Paris France

34. Medical Genetics; Hôpitaux Universitaires de Strasbourg; Strasbourg France

35. Division of Neurology; The Children's Hospital of Philadelphia; Philadelphia PA USA

36. Division of Clinical Genetics; Department of Pediatrics; Columbia University Medical Center; New York NY USA

37. Division of Clinical Genomics; Ambry Genetics; Aliso Viejo CA USA

38. Department of Basic and Clinical Neurosciences; Institute of Psychiatry, Psychology & Neuroscience; King's College London; London UK

39. Epilepsy Center and Division of Neurology; Ann & Robert H. Lurie Children's Hospital of Chicago; Chicago IL USA

40. Northwestern University Feinberg School of Medicine; Chicago IL USA

41. Department of Neurology and Psychiatry, Neurophysiopathology and Neuromuscular Diseases; University of Sapeinza; Rome Italy

42. 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

43. University of Copenhagen; Copenhagen Denmark

Funder

Deutsche Forschungsgemeinschaft

Ambry Genetics

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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