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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy,Facial Dysmorphism,and Cerebellar Dysgenesis
Affiliation:1. Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital, Boston, MA 02115, USA;2. Centre de Génétique Médicale, Centre de Référence “Déficiences Intellectuelles de causes rares,” CHU de Dijon Bourgogne, 21079 Dijon, France;3. Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France;4. Department of Radiology, Boston Children’s Hospital, Boston, MA 02115, USA;5. AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France; Centre de Référence “déficiences intellectuelles de causes rares,” 75013 Paris, France; Groupe de Recherche Clinique (GRC) “déficience intellectuelle et autisme” UPMC, 75013 Paris, France;6. St George''s University of London, London, UK and South West Thames Regional Genetics Service, St George’s Universities NHS Foundation Trust, London SW17 0RE, UK;7. University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands;8. Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands;9. Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, The 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. Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, NHS Foundation Trust, Saint Mary’s Hospital, Manchester M13 9WL, UK;12. Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands;13. Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands;14. Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht 6229 ER, the Netherlands;15. Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine, Rochester, NY 14642, USA;16. GeneDx program, Gaithersburg, MD 20877, USA;17. University of Groningen, University Medical Center Groningen, Department of Child Neurology, 9713 GZ Groningen, the Netherlands;18. Centre de Référence Maladies Rares “Malformations et maladies congénitales du cervelet,” Département de Génétique Médicale, APHP, GHUEP, Hôpital Trousseau, 75012 Paris, France;19. GRC ConCer-LD, Sorbonne Universités, UPMC Univ 06, 75019 Paris, France;20. INSERM U1141, Université Paris Diderot, 75019 Paris, France;21. Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France;22. CNRS UMR 5292, INSERM U1028, CNRL, 69500 Lyon, France;23. Université Claude Bernard Lyon 1, GHE, 69100 Lyon, France;24. Division of Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;25. Department of Pediatric Neurology, Lyon University Hospital, 69677 Lyon, France;26. Department of clinical epileptology, sleep and functional neurology in children, Lyon University Hospital, 69677 Lyon, France;27. Université Claude Bernard Lyon I, CHU de Lyon, 69677 Lyon, France;28. Service de radiologie, Hôpital-Femme-Mère-Enfant, Hospices Civils de Lyon, 69677 Lyon, France;29. Division of Medical Genetics, Department of Pediatrics and Metabolism, MassGeneral Hospital for Children, Boston, MA 02114, USA;30. Department of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, OK 73104, USA;31. Service d’hémato-oncologie pédiatrique, Hôpital Trousseau, APHP, 75012 Paris, France;32. Center for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA;33. AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France;34. UPMC, Inserm, CNRS, UM 75, U 1127, UMR 7225, ICM, Paris 75013, France;35. Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France;36. Department of Microbiology and Molecular Genetics and University of Pittsburgh Cancer Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA 15219, USA;37. Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands
Abstract:
Keywords:intellectual disability  PACS2  PACS-2  epilepsy  cerebellar dysgenesis
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