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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital, Boston, MA 02115, USA
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
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
Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, NHS Foundation Trust, Saint Mary’s Hospital, Manchester M13 9WL, UK