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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.
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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  Data: FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
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  Data: <searchLink fieldCode="AU" term="%22Schneider+AL%22">Schneider AL</searchLink>; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Myers+CT%22">Myers CT</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Muir+AM%22">Muir AM</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Calvert+S%22">Calvert S</searchLink>; Department of Neurology, Queensland Children's Hospital, South Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Basinger+A%22">Basinger A</searchLink>; Genetics, Cook Children's, Fort Worth, TX, USA.<br /><searchLink fieldCode="AU" term="%22Perry+MS%22">Perry MS</searchLink>; Justin Neurosciences Center, Cook Children's Medical Center, Fort Worth, TX, USA.<br /><searchLink fieldCode="AU" term="%22Rodan+L%22">Rodan L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Helbig+KL%22">Helbig KL</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Chambers+C%22">Chambers C</searchLink>; Department of Neurosciences, University of Virginia, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Gorman+KM%22">Gorman KM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22King+MD%22">King MD</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Donkervoort+S%22">Donkervoort S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Soldatos+A%22">Soldatos A</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Bönnemann+CG%22">Bönnemann CG</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Spataro+N%22">Spataro N</searchLink>; Genetics Laboratory, UDIAT-Centre Diagnostic, Parc Taulí University Hospital, Parc Taulí I3PT Research and Innovation Institute, University of Barcelona, Sabadell, Spain.<br /><searchLink fieldCode="AU" term="%22Gabau+E%22">Gabau E</searchLink>; Paediatric Unit, Parc Taulí University Hospital, Parc Taulí I3PT Research and Innovation Institute, University of Barcelona, Sabadell, Spain.<br /><searchLink fieldCode="AU" term="%22Arellano+M%22">Arellano M</searchLink>; Neuropediatrics Unit, Pediatric Service, MutuaTerrassa University Hospital, Terrassa, Spain.<br /><searchLink fieldCode="AU" term="%22Cappuccio+G%22">Cappuccio G</searchLink>; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Brunetti-Pierri+N%22">Brunetti-Pierri N</searchLink>; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Rossignol+E%22">Rossignol E</searchLink>; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Neurosciences and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Hamdan+FF%22">Hamdan FF</searchLink>; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Michaud+JL%22">Michaud JL</searchLink>; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Neurosciences and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Balak+C%22">Balak C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mefford+HC%22">Mefford HC</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%222983306R%22">Epilepsia</searchLink> [Epilepsia] 2021 Jan; Vol. 62 (1), pp. e13-e21. <i>Date of Electronic Publication: </i>2020 Dec 06.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Blackwell+Science%22">Blackwell Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>2983306R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1528-1167 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200139580%22">00139580 </searchLink><i>NLM ISO Abbreviation: </i>Epilepsia <i>Subsets: </i>MEDLINE
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