FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

Author:

Schneider Amy L.1ORCID,Myers Candace T.2,Muir Alison M.2ORCID,Calvert Sophie3,Basinger Alice4,Perry M. Scott5ORCID,Rodan Lance67,Helbig Katherine L.8,Chambers Chelsea9,Gorman Kathleen M.1011,King Mary D.1011,Donkervoort Sandra12,Soldatos Ariane12,Bönnemann Carsten G.12,Spataro Nino13,Gabau Elisabeth14,Arellano Montserrat15,Cappuccio Gerarda1617,Brunetti‐Pierri Nicola1617,Rossignol Elsa1819ORCID,Hamdan Fadi F.1820,Michaud Jacques L.1819,Balak Christopher2122,Mefford Heather C.2,Scheffer Ingrid E.1232425ORCID

Affiliation:

1. Epilepsy Research Centre Department of Medicine, Austin Health The University of Melbourne Heidelberg Victoria Australia

2. Department of Pediatrics Division of Genetic Medicine University of Washington Seattle WA USA

3. Department of Neurology Queensland Children’s Hospital South Brisbane Queensland Australia

4. Genetics Cook Children's Fort Worth TX USA

5. Justin Neurosciences Center Cook Children’s Medical Center Fort Worth TX USA

6. Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA USA

7. Department of Neurology Boston Children's Hospital Harvard Medical School Boston MA USA

8. Division of Neurology Children’s Hospital of Philadelphia Philadelphia PA USA

9. Department of Neurosciences University of Virginia Charlottesville VA USA

10. Department of Neurology and Clinical Neurophysiology Children’s Health Ireland at Temple Street Dublin Ireland

11. School of Medicine and Medical Sciences University College Dublin Dublin Ireland

12. Neuromuscular and Neurogenetic Disorders of Childhood Section Neurogenetics Branch National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda MD USA

13. Genetics Laboratory UDIAT‐Centre Diagnostic Parc Taulí University Hospital Parc Taulí I3PT Research and Innovation Institute University of Barcelona Sabadell Spain

14. Paediatric Unit Parc Taulí University Hospital Parc Taulí I3PT Research and Innovation Institute University of Barcelona Sabadell Spain

15. Neuropediatrics Unit Pediatric Service MutuaTerrassa University Hospital Terrassa Spain

16. Department of Translational Medicine Federico II University Naples Italy

17. Telethon Institute of Genetics and Medicine Pozzuoli, Naples Italy

18. Centre Hospitalier Universitaire Sainte‐Justine Research Center Montreal Quebec Canada

19. Department of Neurosciences and Department of Pediatrics University of Montreal Montreal Quebec Canada

20. Department of Pediatrics University of Montreal Montreal Quebec Canada

21. Neurogenomics Division Centre for Rare Childhood Disorders (C4RCD) Translational Genomics Research Institute Phoenix AZ USA

22. Department of Cellular and Molecular Medicine School of Medicine University of California San Diego La Jolla CA USA

23. Department of Paediatrics Royal Children’s Hospital University of Melbourne Parkville Victoria Australia

24. Florey Institute of Neuroscience and Mental Health Heidelberg Victoria Australia

25. Murdoch Children’s Research Institute Royal Children’s Hospital Parkville Victoria Australia

Funder

National Institute of Neurological Disorders and Stroke

Citizens United for Research in Epilepsy

March of Dimes Foundation

National Health and Medical Research Council

Health Research Council of New Zealand

Fondazione Telethon

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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