Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Author:

Maas Roeltje R.1,Iwanicka‐Pronicka Katarzyna2,Kalkan Ucar Sema3,Alhaddad Bader4,AlSayed Moeenaldeen56,Al‐Owain Mohammed A.56,Al‐Zaidan Hamad I.56,Balasubramaniam Shanti78,Barić Ivo910,Bubshait Dalal K.11,Burlina Alberto12,Christodoulou John131415,Chung Wendy K.16,Colombo Roberto1718,Darin Niklas19,Freisinger Peter20,Garcia Silva Maria Teresa2122,Grunewald Stephanie23,Haack Tobias B.424,van Hasselt Peter M.25,Hikmat Omar2627,Hörster Friederike28,Isohanni Pirjo2930,Ramzan Khushnooda56,Kovacs‐Nagy Reka4,Krumina Zita31,Martin‐Hernandez Elena2122,Mayr Johannes A.32,McClean Patricia33,De Meirleir Linda34,Naess Karin35,Ngu Lock H.36,Pajdowska Magdalena37,Rahman Shamima38,Riordan Gillian39,Riley Lisa1415,Roeben Benjamin4041,Rutsch Frank42,Santer Rene43,Schiff Manuel44,Seders Martine45,Sequeira Silvia46,Sperl Wolfgang32,Staufner Christian28,Synofzik Matthis4041,Taylor Robert W.47,Trubicka Joanna48,Tsiakas Konstantinos43,Unal Ozlem49,Wassmer Evangeline50,Wedatilake Yehani38,Wolff Toni51,Prokisch Holger452,Morava Eva53,Pronicka Ewa54,Wevers Ron A.1,de Brouwer Arjan P.4555,Wortmann Saskia B.43252

Affiliation:

1. Translational Metabolic Laboratory, Department of Laboratory MedicineRadboud University Medical CenterNijmegen the Netherlands

2. Department of Audiology and PhoniatricsChildren's Memorial Health InstituteWarsaw Poland

3. Division of Metabolic Disease, Ege University Medical Faculty, Department of PediatricsIzmir Turkey

4. Institute of Human GeneticsTechnische UniversitätMünchenMunich Germany

5. Department of GeneticsKing Faisal Specialist Hospital and Research CenterRiyadh Saudi Arabia

6. Department of Anatomy and Cell BiologyCollege of Medicine, Alfaisal UniversityRiyadh Saudi Arabia

7. Western Sydney Genetics Program, Children's Hospital at Westmead, SydneyNew South Wales Australia

8. Discipline of Genetic Medicine & Paediatrics and Child Health, University of SydneySydney New South Wales Australia

9. Department of PediatricsUniversity Hospital CenterZagreb Croatia

10. School of Medicine, University of ZagrebZagreb Croatia

11. Department of Pediatrics, College of MedicineImam Abdulrahman Bin Faisal UniversityDammam Saudi Arabia

12. Division of Inherited Metabolic Diseases, Department of PediatricsUniversity Hospital of PaduaPadua Italy

13. Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute, and Department of PaediatricsMelbourne Medical School, University of MelbourneMelbourne Victoria Australia

14. Genetic Metabolic Disorders Research Unit and Western Sydney Genetics Program, Children's Hospital at WestmeadSydney New South Wales Australia

15. Discipline of Child and Adolescent Health and Genetic Medicine, Sydney Medical School, University of SydneySydney New South Wales Australia

16. Departments of Pediatrics and MedicineColumbia UniversityNew York NY

17. Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University of the Sacred HeartRome Italy

18. Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan HospitalMilan Italy

19. Department of PediatricsInstitute of Clinical Sciences, University of Gothenburg, Queen Silvia's Children's HospitalGothenburg Sweden

20. Childrens Hospital, Klinikum ReutlingenReutlingen Germany

21. Inborn Errors of Metabolism and Mitochondrial Disease Unit“12 de Octubre” University Hospital, Avenida de Cordoba sn, 28041 Madrid, Spain. Rare Diseases Biomedical Research Centre (CIBERER)Madrid Spain

22. Complutense UniversityMadrid Spain

23. Metabolic Medicine DepartmentGreat Ormond Street Hospital for Children National Health Service Foundation Trust, University College London Institute of Child HealthLondon United Kingdom

24. Institute of Medical Genetics and Applied GenomicsTübingen Germany

25. Wilhelmina Children's Hospital Utrecht, University Medical Center UtrechtUtrecht the Netherlands

26. Department of PediatricsHaukeland University HospitalBergen Norway

27. Department of Clinical Medicine (K1)University of BergenBergen Norway

28. Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic MedicineUniversity Hospital HeidelbergHeidelberg Germany

29. Children's Hospital, University of Helsinki and Helsinki University HospitalHelsinki Finland

30. Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of HelsinkiHelsinki Finland

31. Department of Biology and MicrobiologyRiga Stradin's UniversityRiga Latvia

32. Department of PediatricsSalzburg State Hospitals and Paracelsus Medical UniversitySalzburg Austria

33. Leeds Teaching Hospitals National Health Service TrustLeeds United Kingdom

34. Pediatric NeurologyBrussels University HospitalBrussels Belgium

35. Department of Pediatric NeurologyKarolinska University HospitalStockholm Sweden

36. Division of Clinical Genetics, Department of GeneticsKuala Lumpur HospitalKuala Lumpur Malaysia

37. Department of Clinical Biochemistry, Radioimmunology, and Experimental MedicineChildren's Memorial Health InstituteWarsaw Poland

38. University College London Great Ormond Street Institute of Child HealthLondon United Kingdom

39. Department of Pediatric NeurologyRed Cross War Memorial Children's HospitalCape Town South Africa

40. Department of NeurodegenerationHertie Institute for Clinical Brain Research, University of TübingenTübingen Germany

41. German Center for Neurodegenerative Diseases (DZNE)Tübingen Germany

42. Department of General PediatricsMünster University Children's HospitalMünster Germany

43. Department of PediatricsUniversity Medical Center EppendorfHamburg Germany

44. Reference Center for Inherited Metabolic Diseases, AP‐HP, Robert Debré Hospital, University Paris Diderot‐Sorbonne Paris Cité, Paris, France AND INSERM U1141Paris France

45. Department of Human GeneticsRadboud University Medical CenterNijmegen the Netherlands

46. Metabolic UnitDona Estefânia HospitalLisbon Portugal

47. Wellcome Centre for Mitochondrial ResearchInstitute of Neuroscience, The Medical School, Newcastle UniversityNewcastle upon Tyne United Kingdom

48. Department of Medical GeneticsChildren's Memorial Health InstituteWarsaw Poland

49. Division of Metabolic DiseasesHacettepe University Children's HospitalAnkara Turkey

50. Birmingham Children's HospitalBirmingham United Kingdom

51. Nottingham University Hospitals National Health Service Trust, Nottingham Children's HospitalNottingham United Kingdom

52. Institute of Human Genetics, Helmholtz Center MunichNeuherberg Germany

53. Hayward Genetics Center and Department of PediatricsTulane University Medical SchoolNew Orleans LA

54. Department of Pediatrics, Nutrition and Metabolic DiseasesChildren's Memorial Health InstituteWarsaw Poland

55. Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical CenterNijmegen the Netherlands

Funder

Else Kröner-Fresenius-Stiftung

Horizon 2020

Medical Research Council

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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