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A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
Affiliation:1. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;2. The Epilepsy NeuroGenetics Initiative, Children''s Hospital of Philadelphia, Philadelphia, PA 19104, USA;3. Department of Biomedical and Health Informatics, Children’s Hospital of Philadelphia, Philadelphia, PA 19146, USA;4. AP-HP, Hôpital Armand-Trousseau, Service d’Anatomie Pathologique, 75012 Paris, France;5. INMED INSERM U 901 Parc Scientifique de Luminy, 13273 Marseille, France;6. Centre de Recherche Clinique ConCer-LD, Paris, France;7. GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil;8. Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil;9. Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil;10. Secretaria Estadual de Saúde do Estado do Acre, Rio Branco, AC, Brazil;11. Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia;12. Systems and Computational Biology, Bio21 Institute, University of Melbourne, 30 Flemington Rd, Parkville, VIC 3052, Australia;13. School of Computing and Information Systems, University of Melbourne, Melbourne, VIC 3053, Australia;14. School of Chemistry and Molecular Biology, University of Queensland, St Lucia, QLD 4072, Australia;15. INSERM U 1016, Institut Cochin, Paris, France;16. CNRS UMR 8104, Paris, France;17. Université Paris Descartes, Sorbonne Paris Cité, Paris, France;18. AP-HP, Hôpital Raymond-Poincaré, Laboratoire Anatomie Pathologique, Garches, France;19. INMED, INSERM, Aix-Marseille Université, Campus de Luminy, 13009 Marseille, France;20. Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA;21. Baylor College of Medicine Genetics Clinic, Children''s Hospital of San Antonio, San Antonio, TX, USA;22. AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France;23. Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, 75013 Paris, France;24. AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris, France;25. Department of Physical Therapy, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;26. Division of Neurosurgery, Children''s Hospital of Philadelphia, Philadelphia, PA 19146, USA;27. Department of Neurosurgery, The University of Pennsylvania, Philadelphia, PA 19104, USA
Abstract:
Keywords:dynamin-1  vesicle fission  synapse  epilepsy  developmental and epileptic encephalopathy  dominant negative  alternative transcripts
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