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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Schneider, Amy L; Myers, Candace T; Muir, Alison M; Calvert, Sophie; Basinger, Alice; Perry, M Scott; Rodan, Lance; Helbig, Katherine L; Chambers, Chelsea; Gorman, Kathleen M; King, Mary D; Donkervoort, Sandra; Soldatos, Ariane; Bönnemann, Carsten G; Spataro, Nino; Gabau, Elisabeth; Arellano, Montserrat; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rossignol, Elsa; Hamdan, Fadi F; Michaud, Jacques L; Balak, Christopher; Mefford, Heather C; Scheffer, Ingrid E.
Afiliação
  • 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.
  • Helbig KL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Chambers C; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Gorman KM; Department of Neurosciences, University of Virginia, Charlottesville, VA, USA.
  • King MD; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
  • Donkervoort S; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
  • Soldatos A; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
  • Bönnemann CG; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
  • Spataro N; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Gabau E; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Arellano M; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Cappuccio G; Genetics Laboratory, UDIAT-Centre Diagnostic, Parc Taulí University Hospital, Parc Taulí I3PT Research and Innovation Institute, University of Barcelona, Sabadell, Spain.
  • Brunetti-Pierri N; Paediatric Unit, Parc Taulí University Hospital, Parc Taulí I3PT Research and Innovation Institute, University of Barcelona, Sabadell, Spain.
  • Rossignol E; Neuropediatrics Unit, Pediatric Service, MutuaTerrassa University Hospital, Terrassa, Spain.
  • Hamdan FF; Department of Translational Medicine, Federico II University, Naples, Italy.
  • Michaud JL; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Balak C; Department of Translational Medicine, Federico II University, Naples, Italy.
  • Mefford HC; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Scheffer IE; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.
Epilepsia ; 62(1): e13-e21, 2021 01.
Article em En | MEDLINE | ID: mdl-33280099
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Anormalidades Craniofaciais / Epilepsias Mioclônicas Progressivas / Proteínas Ligases SKP Culina F-Box / Deficiência Intelectual Tipo de estudo: Etiology_studies Idioma: En Revista: Epilepsia Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Anormalidades Craniofaciais / Epilepsias Mioclônicas Progressivas / Proteínas Ligases SKP Culina F-Box / Deficiência Intelectual Tipo de estudo: Etiology_studies Idioma: En Revista: Epilepsia Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália