Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency-Reference-Cited by-同舟云学术

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Published:2022-01-12 Issue:3 Volume:43 Page:403-419
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Scala Marcello¹²³^ORCID,Wortmann Saskia B.⁴⁵^ORCID,Kaya Namik⁶⁷^ORCID,Stellingwerff Menno D.⁸,Pistorio Angela⁹,Glamuzina Emma¹⁰,Karnebeek Clara D.¹¹,Skrypnyk Cristina¹²,Iwanicka‐Pronicka Katarzyna¹³¹⁴,Piekutowska‐Abramczuk Dorota¹³,Ciara Elżbieta¹³,Tort Frederic¹⁵,Sheidley Beth¹⁶¹⁷,Poduri Annapurna¹⁶¹⁷¹⁸,Jayakar Parul¹⁹,Jayakar Anuj¹⁹,Upadia Jariya²⁰,Walano Nicolette²⁰,Haack Tobias B.²¹,Prokisch Holger²²²³,Aldhalaan Hesham²⁴,Karimiani Ehsan G.²⁵²⁶²⁷,Yildiz Yilmaz²⁸,Ceylan Ahmet C.²⁹,Santiago‐Sim Teresa³⁰,Dameron Amy³⁰,Yang Hui³⁰,Toosi Mehran B.³¹,Ashrafzadeh Farah³²,Akhondian Javad³¹,Imannezhad Shima³³,Mirzadeh Hanieh S.³³,Maqbool Shazia³⁴,Farid Aisha³⁴,Al‐Muhaizea Mohamed A.²⁴,Alshwameen Meznah O.²⁴,Aldowsari Lama⁶,Alsagob Maysoon⁶,Alyousef Ashwaq⁶,AlMass Rawan⁶,AlHargan Aljouhra⁶,Alwadei Ali H.³⁵,AlRasheed Maha M.³⁶,Colak Dilek³⁷,Alqudairy Hanan⁶,Khan Sameena²⁴,Lines Matthew A.³⁸,García Cazorla M. Ángeles³⁹,Ribes Antonia¹⁵^ORCID,Morava Eva⁴⁰,Bibi Farah⁴¹,Haider Shahzad⁴²,Ferla Matteo P.⁴³,Taylor Jenny C.⁴³,Alsaif Hessa S.⁷,Firdous Abdulwahab⁷,Hashem Mais⁷,Shashkin Chingiz⁴⁴,Koneev Kairgali⁴⁵,Kaiyrzhanov Rauan³,Efthymiou Stephanie³,Genomics Queen Square³,Schmitt‐Mechelke Thomas⁴⁶,Ziegler Andreas⁴⁷,Issa Mahmoud Y.⁴⁸,Elbendary Hasnaa M.⁴⁸,Striano Pasquale¹²,Alkuraya Fowzan S.⁷⁴⁹^ORCID,Zaki Maha S.⁴⁸,Gleeson Joseph G.⁵⁰,Barakat Tahsin Stefan⁵¹,Bierau Jorgen⁵²,Knaap Marjo S.⁸⁵³^ORCID,Maroofian Reza³,Houlden Henry³

Affiliation:

1. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health Università Degli Studi di Genova Genoa Italy

2. Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto Giannina Gaslini Genoa Italy

3. UCL Queen Square Institute of Neurology University College London London UK

4. Amalia Children's Hospital Radboud University Nijmegen Nijmegen The Netherlands

5. University Children's Hospital Paracelsus Medical University Salzburg Austria

6. Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia

7. Department of Translational Genomics, Center for Genomics Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia

8. Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers Vrije Universiteit and Amsterdam Neuroscience Amsterdam The Netherlands

9. Clinical Epidemiology and Biostatistics Unit IRCCS Istituto Giannina Gaslini Genoa Italy

10. Adult and Paediatric National Metabolic Service Starship Children's Hospital Auckland New Zealand

11. Departments of Pediatrics and Clinical Genetics Academic Medical Centre Amsterdam The Netherlands

12. Department of Molecular Medicine, Al‐Jawhara Centre for Molecular Medicine Arabian Gulf University Manama Kingdom of Bahrain

13. Department of Medical Genetics The Children's Memorial Health Institute Warsaw Poland

14. Department of Audiology and Phoniatrics The Children's Memorial Health Institute Warsaw Poland

15. Secció d'Errors Congènits del Metabolisme‐IBC, Servei de Bioquímica iGenètica Molecular Hospital Clínic, IDIBAPS, CIBERER Barcelona Spain

16. Department of Neurology F.M. Kirby Neurobiology Center, Boston Children's Hospital Boston Massachusettes USA

17. Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program Boston Children's Hospital Boston Massachusettes USA

18. Department of Neurology Harvard Medical School Boston Massachusettes USA

19. Nicklaus Children's Hospital Miami Florida USA

20. Tulane University School of Medicine New Orleans Louisiana USA

21. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

22. Institute of Human Genetics Technische Universität München Munich Germany

23. Institute of Human Genetics Helmholtz Zentrum München Neuherberg Germany

24. Department of Neurosciences King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia

25. Department of Medical Genetics Next Generation Genetic Polyclinic Mashhad Iran

26. Molecular and Clinical Sciences Institute St. George's University of London, Cranmer Terrace London UK

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

28. Pediatric Metabolic Diseases Clinic Dr. Sami Ulus Training and Research Hospital for Maternity and Children Ankara Turkey

29. Department of Medical Genetics Ankara City Hospital Ankara Turkey

30. GeneDx Gaithersburg Maryland USA

31. Pediatric Neurology Department, Ghaem Hospital Mashhad University of Medical Sciences Mashhad Iran

32. Department of Pediatrics Mashhad University of Medical Sciences Mashhad Iran

33. Department of Pediatric Diseases Mashhad University of Medical Sciences Mashhad Iran

34. Development and Behavioral Pediatrics Department Institute of Child Health and The Children Hospital Lahore Pakistan

35. Neurosciences Department King Fahad Medical City Riyadh Saudi Arabia

36. Department of Clinical Pharmacy King Saud University Riyadh Saudi Arabia

37. Department of Biostatistics, Epidemiology and Scientific Computing KFSHRC Riyadh Kingdom of Saudi Arabia

38. Medical Genetics, Department of Pediatrics Alberta Children's Hospital Calgary Canada

39. Inborn Errors of Metabolism Unit Hospital Sant Joan de Déu Barcelona Spain

40. Department of Clinical Genomics, Laboratory of Medicine and Pathology Center for Individualized Medicine, Mayo Clinic Rochester Minnesota USA

41. Institute of Biochemistry and Biotechnology Pir Mehar Ali Shah Arid Agriculture University Rawalpindi Pakistan

42. Izzat Ali Shah Hospital Lalarukh Wah Cantt Rawalpindi Pakistan

43. NIHR Oxford BRC Genomic Medicine, Wellcome Centre for Human Genetics University of Oxford Oxford UK

44. International University of Postgraduate Education Almaty Kazakhstan

45. Department of Neurology and Neurosurgery Asfendiyarov Kazakh National Medical University Almaty Kazakhstan

46. Department of Neuropaediatrics Children's Hospital, Cantonal Hospital Lucerne Switzerland

47. Zentrum für Kinder und Jugendmedizin Heidelberg, Sektion Neuropädiatrie und Stoffwechselmedizin Universitätsklinikum Heidelberg Heidelberg Germany

48. Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt

49. Department of Anatomy and Cell Biology Alfaisal University Riyadh Saudi Arabia

50. Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute University of California San Diego California USA

51. Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam The Netherlands

52. Laboratory of Biochemical Genetics, Department of Clinical Genetics Maastricht University Hospital Maastricht The Netherlands

53. Department of Functional Genomics, Center for Neurogenomics and Cognitive Research VU University Amsterdam The Netherlands

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24326

Reference57 articles.

1. NUDT16 and ITPA play a dual protective role in maintaining chromosome stability and cell growth by eliminating dIDP/IDP and dITP/ITP from nucleotide pools in mammals

2. Treatable Genetic Metabolic Epilepsies

3. ITPase-deficient mice show growth retardation and die before weaning

4. Pharmacogenetic significance of inosine triphosphatase

5. New insights into the mechanisms of the ketogenic diet

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