Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Author:

Crow Yanick J12ORCID,Marshall Heather1,Rice Gillian I3,Seabra Luis2,Jenkinson Emma M3,Baranano Kristin4,Battini Roberta56,Berger Andrea7,Blair Edward8,Blauwblomme Thomas9,Bolduc Francois10,Boddaert Natalie11,Buckard Johannes12,Burnett Heather13,Calvert Sophie14,Caumes Roseline15,Ng Andy Cheuk‐Him10,Chiang Diana10,Clifford David B16,Cordelli Duccio M17,Burca Anna8,Demic Natasha18,Desguerre Isabelle19,De Waele Liesbeth2021,Di Fonzo Alessio2223,Dunham S. Richard16,Dyack Sarah24,Elmslie Frances25,Ferrand Mickaël26,Fisher Gemma27,Karimiani Ehsan Ghayoor2829,Ghoumid Jamal15,Gibbon Frances27,Goel Himanshu3031,Hilmarsen Hilde T32,Hughes Imelda33,Jacob Anu3435,Jones Elizabeth A336,Kumar Ram37,Leventer Richard J3839,MacDonald Shelley40,Maroofian Reza41,Mehta Sarju G42,Metz Imke43,Monfrini Edoardo2223,Neumann Daniela44,Noetzel Michael1645,O'Driscoll Mary46,Õunap Katrin4748ORCID,Panzer Axel49,Parikh Sumit50,Prabhakar Prab51,Ramond Francis52,Sandford Richard53,Saneto Russell5455,Soh Calvin56,Stutterd Chloe A57ORCID,Subramanian Gopinath M58,Talbot Kevin59,Thomas Rhys H60,Toro Camilo61,Touraine Renaud54,Wakeling Emma62,Wassmer Evangeline63,Whitney Andrea64,Livingston John H65,O'Keefe Raymond T3,Badrock Andrew P1

Affiliation:

1. Centre for Genomic and Experimental Medicine MRC Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh UK

2. Laboratory of Neurogenetics and Neuroinflammation Institut Imagine, Université de Paris Paris France

3. Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester Manchester UK

4. Department of Neurology and Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland USA

5. Department of Clinical and Experimental Medicine University of Pisa Pisa Italy

6. Department of Developmental Neuroscience IRCCS Fondazione Stella Maris Pisa Italy

7. Department of Neuropediatrics Kliniken Nordoberpfalz AG Germany

8. Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Foundation Trust Oxford UK

9. Paediatric Neurosurgery Department Necker‐Enfants Malades Hospital, APHP, Université de Paris Paris France

10. Department of Pediatrics University of Alberta Edmonton Alberta Canada

11. Paediatric Radiology Department Hôpital Necker Enfants Malades, AP‐HP, University de Paris, INSERM U1163, Institut Imagine Paris France

12. Department of Neuropediatrics Sozialpädiatrisches Zentrum am EVK Düsseldorf Düsseldorf Germany

13. HNEkidsRehab Newcastle New South Wales Australia

14. Neurosciences Department Queensland Children's Hospital Brisbane Queensland Australia

15. Clinique de Génétique Guy Fontaine CHU Lille Lille France

16. Department of Neurology Washington University School of Medicine St. Louis Missouri USA

17. Child Neurology and Psychiatry Unit, Department of Medical and Surgical Sciences (DIMEC) S. Orsola Hospital, University of Bologna Italy

18. Department of Neurology Vestfold Hospital Tønsberg Norway

19. Department of Paediatric Neurology Université de Paris, Hôpital Necker Enfants Malades, Assistance Publique‐Hôpitaux de Paris Paris France

20. Department of Paediatric Neurology University Hospitals Leuven Leuven Belgium

21. Department of Development and Regeneration KU Leuven Leuven Belgium

22. Foundation IRCCS Ca 'Granda Ospedale Maggiore Policlinico Neurology Unit Milan Italy

23. Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation University of Milan Milan Italy

24. Division of Medical Genetics Dalhousie University Halifax Nova Scotia Canada

25. South West Thames Regional Genetics Service St George's, University of London London UK

26. Department of Neurology CHRU Nancy Nancy France

27. Department of Paediatric Neurology University Hospital of Wales Cardiff UK

28. Molecular and Clinical Sciences Institute St. George's University of London London UK

29. Innovative Medical Research Center Mashhad Branch, Islamic Azad University Mashhad Iran

30. Hunter Genetics Hunter New England Local Health District Waratah Australia

31. School of Medicine and Public Health University of Newcastle Callaghan Australia

32. Department of Medical Genetics Telemark Hospital Trust Skien Norway

33. Department of Paediatric Neurology Central Manchester University Hospitals NHS Foundation Trust Manchester UK

34. Department of Neurology The Walton Centre NHS Trust Liverpool UK

35. Department of Neurology Cleveland Clinic Abu Dhabi Abu Dhabi United Arab Emirates

36. Clinical Genetic Service, Manchester Centre for Genomic Medicine Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester UK

37. Department of Paediatric Neurology Alder Hey Children's NHS Foundation Trust Liverpool UK

38. Department of Neurology Royal Children's Hospital Murdoch Children's Research Institute Melbourne Australia

39. Department of Paediatrics University of Melbourne Melbourne Australia

40. Maritime Medical Genetics IWK Health Centre Halifax Nova Scotia Canada

41. Department of Neuromuscular Disorders University College London Queen Square Institute of Neurology London UK

42. East Anglian Regional Genetics Service Addenbrookes Hospital Cambridge UK

43. Department of Neuropathology University Medical Center, Georg August University Göttingen Germany

44. Klinikum Wilhelmshaven Department of Neuropediatrics Germany

45. Department of Pediatrics Washington University School of Medicine St. Louis Washington USA

46. West Midlands Regional Clinical Genetics Service, Birmingham Health Partners Birmingham Women's Hospital NHS Foundation Trust Birmingham UK

47. Department of Clinical Genetics Institute of Clinical Medicine, University of Tartu Tartu Estonia

48. Department of Clinical Genetics, United Laboratories Tartu University Hospital Tartu Estonia

49. Paediatric Neurology DRK Kliniken Berlin‐Westend Berlin Germany

50. Neurogenetics Program, Center for Pediatric Neurology Neurosciences Institute, Cleveland Clinic Cleveland Ohio USA

51. Department of Paediatric Neurology Great Ormond Street Hospital for Children NHS Foundation Trust London UK

52. Service de Génétique CHU‐Hôpital Nord Saint Etienne France

53. Academic Department of Medical Genetics University of Cambridge School of Clinical Medicine Cambridge UK

54. Neuroscience Institute, Division of Paediatric Neurology Seattle Children's Hospital and University of Washington Seattle Washington USA

55. Department of Neurology Seattle Children's Hospital and University of Washington Seattle Washington USA

56. Radiology Department Manchester University Foundation NHS Trust Manchester UK

57. Victorian Clinical Genetics Service Parkville Australia

58. Department of Paediatric Neurology John Hunter Children's Hospital New Lambton Heights New South Wales Australia

59. Nuffield Department of Clinical Neurosciences Oxford University Oxford UK

60. Translational and Clinical Research Institute Newcastle University Newcastle upon Tyne UK

61. NIH Undiagnosed Diseases Program (UDP) National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA

62. North East Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust London UK

63. Department of Paediatric Neurology Birmingham Children's Hospital Birmingham UK

64. University Hospital Southampton NHS Foundation Trust Department of Paediatric Neurology Southampton UK

65. Department of Paediatric Neurology Leeds General Infirmary Leeds UK

Funder

Agence Nationale de la Recherche

Estonian Research Competency Council

Great Ormond Street Hospital Charity

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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