FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
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| Title: | FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. |
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| Authors: | Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia., Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Calvert S; Department of Neurology, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Basinger A; Genetics, Cook Children's, Fort Worth, TX, USA., Perry MS; Justin Neurosciences Center, Cook Children's Medical Center, Fort Worth, TX, USA., Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Chambers C; Department of Neurosciences, University of Virginia, Charlottesville, VA, USA., Gorman KM; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland., King MD; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Soldatos A; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Spataro N; Genetics Laboratory, UDIAT-Centre Diagnostic, Parc Taulí University Hospital, Parc Taulí I3PT Research and Innovation Institute, University of Barcelona, Sabadell, Spain., Gabau E; Paediatric Unit, Parc Taulí University Hospital, Parc Taulí I3PT Research and Innovation Institute, University of Barcelona, Sabadell, Spain., Arellano M; Neuropediatrics Unit, Pediatric Service, MutuaTerrassa University Hospital, Terrassa, Spain., Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Rossignol E; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Neurosciences and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Hamdan FF; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Michaud JL; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Neurosciences and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Balak C; Neurogenomics Division, Centre for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, AZ, USA.; Department of Cellular and Molecular Medicine, School of Medicine, University of California San Diego, La Jolla, CA, USA., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. |
| Source: | Epilepsia [Epilepsia] 2021 Jan; Vol. 62 (1), pp. e13-e21. Date of Electronic Publication: 2020 Dec 06. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Video-Audio Media |
| Journal Info: | Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1528-1167 |
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| DOI: | 10.1111/epi.16784 |
