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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans,and Altered Levels Cause Neurological Defects in Drosophila
Authors:Jonas Straub  Enrico D.H. Konrad  Johanna Grüner  Annick Toutain  Levinus A. Bok  Megan T. Cho  Heather P. Crawford  Holly Dubbs  Ganka Douglas  Rebekah Jobling  Diana Johnson  Bryan Krock  Mohamad A. Mikati  Addie Nesbitt  Joost Nicolai  Meredith Phillips  Annapurna Poduri  Xilma R. Ortiz-Gonzalez  Christiane Zweier
Affiliation:1. Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany;2. Service de Génétique, Centre Hospitalier Universitaire de Tours, 37044 Tours, France;3. Department of Pediatrics, Máxima Medical Center, 5504 DB Veldhoven, the Netherlands;4. GeneDx, Gaithersburg, MD 20877, USA;5. Clinical and Metabolic Genetics, Cook Children’s Medical Center, Fort Worth, TX 76102, USA;6. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;7. Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada;8. Sheffield Children’s Hospital, Sheffield S10 2TH, UK;9. Division of Genomic Diagnostics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;10. Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;11. Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA;12. Department of Neurology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands;13. Epilepsy Genetics Program, Department of Neurology, Boston Children’s Hospital, Boston, MA 02115, USA;14. Department of Neurology, Harvard Medical School, Boston, MA 02115, USA;15. Pereleman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;16. Ambry Genetics, Aliso Viejo, CA 92656, USA;17. Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands;18. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK;19. Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany
Abstract:
Keywords:RHOBTB2  intellectual disability  epileptic Encephalopathy  ubiquitination  proteasom  Corresponding author
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