Lessons learned from 40 novel PIGA patients and a review of the literature

Author:

Bayat Allan12ORCID,Knaus Alexej3,Pendziwiat Manuela4,Afenjar Alexandra5,Barakat Tahsin Stefan6ORCID,Bosch Friedrich7,Callewaert Bert89,Calvas Patrick10,Ceulemans Berten11,Chassaing Nicolas10,Depienne Christel1213,Endziniene Milda14,Ferreira Carlos R.15,Moura de Souza Carolina Fischinger16,Freihuber Cécile1718,Ganesan Shiva192021,Gataullina Svetlana2223,Guerrini Renzo24ORCID,Guerrot Anne‐Marie25,Hansen Lars26,Jezela‐Stanek Aleksandra27,Karsenty Caroline28,Kievit Anneke6,Kooy Frank R.29ORCID,Korff Christian M.30,Kragh Hansen Johanne31,Larsen Martin3132,Layet Valérie33,Lesca Gaetan3435ORCID,McBride Kim L.363738,Meuwissen Marije29,Mignot Cyril3940,Montomoli Martino24,Moore Hannah41,Naudion Sophie42,Nava Caroline40,Nougues Marie‐Christine43,Parrini Elena24,Pastore Matthew3638,Schelhaas Jurgen H.44,Skinner Steven41,Szczałuba Krzysztoł45,Thomas Ashley46,Thomassen Mads3132,Tranebjærg Lisbeth4748,Slegtenhorst Marjon6,Wolfe Lynne A.4950,Lal Dennis5152535455,Gardella Elena1256ORCID,Bomme Ousager Lilian3132,Brünger Tobias51,Helbig Ingo419202157,Krawitz Peter3,Møller Rikke S.12ORCID

Affiliation:

1. Institute for Regional Health Services University of Southern Denmark Odense Denmark

2. Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center Dianalund Denmark

3. Institute for Genomic Statistics and Bioinformatics University Hospital Bonn Rheinische Friedrich‐Wilhelms‐University Bonn Bonn Germany

4. Department of Neuropediatrics University Medical Center Schleswig‐Holstein Christian Albrechts University Kiel Germany

5. CRMR Congenital Malformations and Diseases of the Cerebellum and Rare Causes of Intellectual Disabilities Department of Genetics Sorbonne University, AP‐HP, Trousseau Hospital Paris France

6. Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam the Netherlands

7. Children’s Hospital Fürth Germany

8. Center for Medical Genetics Ghent University Hospital Ghent Belgium

9. Department of Biomolecular Medicine Ghent University Ghent Belgium

10. UMR1056 INSERM‐Université de Toulouse, Department of Genetics University Hospital of Toulouse Toulouse France

11. Department of Pediatric Neurology University Hospital and University of Antwerp Antwerp Belgium

12. Institute of Human Genetics University Hospital Essen University of Duisburg‐Essen Essen Germany

13. UMR S1127, Inserm U1127, CNRS UMR 7225 Institute of brain and spinal cord Sorbonne University Paris France

14. Neurology Department Medical Academy Lithuanian University of Health Sciences Kaunas Lithuania

15. Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute, National Institutes of Health Bethesda MarylandUSA

16. Medical Genetics Service Hospital de Clinicas de Porto Alegre Porto Alegre Brazil

17. Department of Pediatric Neurology AP‐HP, GHUEP Armand Trousseau University Hospital Paris France

18. GRC ConCer‐LD Sorbonne University, UPMC University of Paris 06 Paris France

19. Division of Neurology Children’s Hospital of Philadelphia Philadelphia PennsylvaniaUSA

20. Epilepsy NeuroGenetics Initiative Children's Hospital of Philadelphia Philadelphia PennsylvaniaUSA

21. Department of Biomedical and Health Informatics Children’s Hospital of Philadelphia Philadelphia PennsylvaniaUSA

22. Sleep Disorders Center AP‐HP, Antoine‐Béclère Hospital Clamart France

23. Department of Pediatrics and Neonatal Intensive Care André Grégoire Hospital Montreuil France

24. Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories Department of Neuroscience, A. Meyer Children's Hospital University of Florence Florence Italy

25. Department of Genetics and Reference Center for Developmental Disorders Normandy Center for Genomic and Personalized Medicine Normandy University, UNIROUEN Inserm U1245 and Rouen University Hospital Rouen France

26. Department of Cellular and Molecular Medicine Faculty of Health Science Copenhagen Center for Glycomics Copenhagen Denmark

27. Department of Genetics and Clinical Immunology National Institute of Tuberculosis and Lung Diseases Warsaw Poland

28. Neuropediatrics Department University Hospital of Toulouse Toulouse France

29. Department of Medical Genetics University of Antwerp Antwerp Belgium

30. Pediatric Neurology Unit Department of the Woman, Child, and Adolescent University Hospitals Geneva Geneva Switzerland

31. Department of Clinical Genetics Odense University Hospital Odense Denmark

32. Human Genetics Department of Clinical Research University of Southern Denmark Odense Denmark

33. Department of Genetics Du Havre Hospital Le Havre France

34. Department of Medical Genetics Lyon University Hospital Lyon France

35. Institut Neuromyogene University Claude Bernard Lyon 1, Lyon University Lyon France

36. Division of Genetic and Genomic Medicine Nationwide Children's Hospital Columbus OhioUSA

37. Center for Cardiovascular Research Nationwide Children's Hospital Columbus OhioUSA

38. Department of Pediatrics Ohio State University Columbus OhioUSA

39. APHP Department of Genetics Pitié‐Salpêtrière Hospital Reference Center for Rare Causes of Intellectual Disabilities Paris France

40. Department of Genetics Inserm U1127, CNRS UMR 7225 Institute for brain and spinal cord ICM, AP‐HP De la Pitié Salpêtrière Hospital, Sorbonne University Paris France

41. Greenwood Genetic Center Greenwood South CarolinaUSA

42. Department of Genetics, University of Bordeaux Bordeaux France

43. Department of Neuropaediatrics Armand Trousseau Hospital, APHP Paris France

44. Department of Epilepsy Zwolle the Netherlands

45. Department of Medical Genetics Warsaw Medical University Warsaw Poland

46. Department of Neurology University of Alabama at Birmingham Birmingham AlabamaUSA

47. Department of Clinical Genetics Rigshospitalet/Kennedy Center Glostrup Denmark

48. Institute of Clinical Medicine University of Copenhagen Copenhagen Denmark

49. Undiagnosed Diseases Program, Common Fund National Institutes of Health Bethesda MarylandUSA

50. Section of Human Biochemical Genetics National Human Genome Research Institute Bethesda MarylandUSA

51. Cologne Center for Genomics University Hospital Cologne, University of Cologne Cologne Germany

52. Stanley Center for Psychiatric Research Broad Institute of Massachusetts Institute of Technology and Harvard Cambridge MassachusettsUSA

53. Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MassachusettsUSA

54. Epilepsy Center Neurological Institute Cleveland Clinic Cleveland OhioUSA

55. Genomic Medicine Institute Lerner Research Institute Cleveland Clinic Cleveland OhioUSA

56. Department of Clinical Neurophysiology Danish Epilepsy Center Dianalund Denmark

57. Department of Neurology University of Pennsylvania, Perelman School of Medicine Philadelphia PennsylvaniaUSA

Funder

Universiteit Gent

Deutsche Forschungsgemeinschaft

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

Brain and Behavior Research Foundation

Danmarks Grundforskningsfond

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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