Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Author:

Coughlin Curtis R.1ORCID,Tseng Laura A.2,Abdenur Jose E.3,Ashmore Catherine4,Boemer François5,Bok Levinus A.6,Boyer Monica3,Buhas Daniela7,Clayton Peter T.8,Das Anibh9,Dekker Hanka10,Evangeliou Athanasios11,Feillet François1213,Footitt Emma J.14,Gospe Sidney M.1516,Hartmann Hans9,Kara Majdi17,Kristensen Erle18,Lee Joy19,Lilje Rina20,Longo Nicola21,Lunsing Roelineke J.22,Mills Philippa8,Papadopoulou Maria T.11,Pearl Phillip L.23,Piazzon Flavia24,Plecko Barbara25,Saini Arushi G.26,Santra Saikat4,Sjarif Damayanti R.27,Stockler‐Ipsiroglu Sylvia28,Striano Pasquale2930,Van Hove Johan L.K.1,Verhoeven‐Duif Nanda M.31,Wijburg Frits A.2,Zuberi Sameer M.32,Karnebeek Clara D.M.233

Affiliation:

1. Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA

2. Department of Pediatrics Emma Children's Hospital Amsterdam University Medical Centre Amsterdam The Netherlands

3. Division of Metabolic Disorders CHOC Children's Hospital Orange California USA

4. Birmingham Women's and Children's NHS Foundation Trust Birmingham UK

5. Department of Human Genetics Centre Hospitalier Universitaire Sart‐Tilman Liège Belgium

6. Department of Pediatrics and Neonatology Máxima Medical Center Veldhoven The Netherlands

7. Division of Medical Genetics, Department of Specialized Medicine Montreal Children's Hospital, McGill University Health Centre Québec Canada

8. Genetics and Genomic Medicine UCL Great Ormond Street Institute of Child Health London UK

9. Clinic for Paediatric Kidney, Liver, and Metabolic Diseases Hannover Medical School Hannover Germany

10. VKS: Dutch Patient Organization for Metabolic Diseases Zwolle The Netherlands

11. Division of Child Neurology and Inherited Metabolic Disorders, 4th Department of Pediatrics Aristotle University of Thessaloniki, General Hospital Papageorgiou Thessaloniki Greece

12. Reference Center for Inborn Errors of Metabolism, Pediatric Unit University Hospital of Nancy Nancy France

13. INSERM UMR S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy University of Lorraine Nancy France

14. Department of Metabolic Paediatrics Great Ormond Street Hospital London UK

15. Division of Pediatric Neurology, Departments of Neurology and Pediatrics University of Washington Seattle Washington USA

16. Department of Pediatrics Duke University Durham North Carolina USA

17. Department of Pediatrics University of Tripoli Tripoli Libya

18. National Management of Newborn Screening and Advanced Laboratory Diagnostics in Inborn Errors of Metabolism, Department of Children and Adolescent Medicine Oslo University Hospital Oslo Norway

19. Department of Metabolic Medicine The Royal Children's Hospital Melbourne Victoria Australia

20. Department of Children and Adolescent Medicine Oslo University Hospital Oslo Norway

21. Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City Utah USA

22. Department of Neurology University Medical Center Groningen, University of Groningen Groningen The Netherlands

23. Division of Epilepsy and Clinical Neurophysiology, Department of Neurology Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

24. Neurometabolic Clinic Children's Institute, University of Sao Paulo Brazil

25. Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine Medical University of Graz Graz Austria

26. Pediatric Neurology Unit, Department of Pediatrics Postgraduate Institute of Medical Education and Research Chandigarh India

27. Department of Child Health Faculty of Medicine, Universitas Indonesia Jakarta Indonesia

28. Division of Biochemical Genetics, BC Children's Hospital University of British Columbia Vancouver British Columbia Canada

29. Pediatric Neurology and Muscular Diseases Unit IRCCS “G. Gaslini” Institute Genoa Italy

30. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genova Genoa Italy

31. Department of Genetics University Medical Center Utrecht Utrecht The Netherlands

32. Paediatric Neurosciences Research Group Royal Hospital for Children & School of Medicine, University of Glasgow Glasgow UK

33. Department of Pediatrics Amalia Children's Hospital, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Center Nijmegen The Netherlands

Funder

University College London

NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research

National Institute for Health Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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4. Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy;Neurology;2023-10-31

5. Comment: Amenable Treatable Severe Pediatric Epilepsies;Seminars in Pediatric Neurology;2023-10

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