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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy,hearing loss,visual impairment,and ataxia
Institution:1. Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA;2. Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK;3. Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany;4. Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA;5. Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico “Carlo Besta,” via Temolo 4, 20126 Milan, Italy;6. Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA;7. Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel 24105, Germany;8. Department of Biological Chemistry, University of California, Irvine, Irvine, CA 92697, USA;9. Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;10. Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA;11. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16124 Genoa, Italy;12. Pediatric Neurology and Muscular Diseases Unit, IRCCS, Istituto “Giannina Gaslini,” Genoa 16123, Italy;13. Neuroradiology Unit, Great Ormond Street Hospital for Children, London WC1N3JH, UK;14. Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, 72076 Tübingen, Germany;15. Department of Clinical Genetics, Erasmus University Medical Center, Erasmus MC Cancer Institute, 3000 Rotterdam, the Netherlands;16. Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore 54600, Pakistan;17. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran 1316943551, Iran;18. Department of Medical Genetics, Kawsar Human Genetics Research Center, Tehran 15956-45513, Iran;19. Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 5C1, Canada;20. Department of Zoology, Abbottabad University of Science and Technology, Abbottabad 22500, Pakistan;21. Department of Biochemistry, King Abdulaziz University, Jeddah 21589, Saudi Arabia;22. Department of Microbiology, Abbottabad University of Science and Technology, Abbottabad 22500, Pakistan;23. Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman 7616914115, Iran;24. DRK-Northern German Epilepsy Centre for Children and Adolescents, 24223 Schwentinental-Raisdorf, Germany;25. Department of Neurosciences, University of Padova, via Giustiniani 2, Padova 35128, Italy;26. GeneDx, Gaithersburg, MD 20877, USA;27. University of Washington, Seattle, WA 98195, USA;28. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;29. The Epilepsy NeuroGenetics Initiative, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;30. Department of Biomedical and Health Informatics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;31. Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104, USA;32. Department of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands;33. Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy;34. Taub Institute for Alzheimer Disease and the Aging Brain, Columbia University Medical Center, New York, NY 10032, USA;35. Department of Epileptology and Neurology, University of Aachen, Aachen 52074, Germany
Abstract:
Keywords:mitochondria  α-ketoglutarate  bi-allelic  developmental and epileptic encephalopathy  DEE  exome sequencing  CRISPR-Cas9 gene editing  neurodevelopmental disease
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