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dc.contributor.authorVlaskamp, Danique R M-
dc.contributor.authorShaw, Benjamin J-
dc.contributor.authorBurgess, Rosemary-
dc.contributor.authorMei, Davide-
dc.contributor.authorMontomoli, Martino-
dc.contributor.authorXie, Han-
dc.contributor.authorMyers, Candace T-
dc.contributor.authorBennett, Mark F-
dc.contributor.authorXiangWei, Wenshu-
dc.contributor.authorWilliams, Danielle-
dc.contributor.authorMaas, Saskia M-
dc.contributor.authorBrooks, Alice S-
dc.contributor.authorMancini, Grazia M S-
dc.contributor.authorvan de Laar, Ingrid M B H-
dc.contributor.authorvan Hagen, Johanna M-
dc.contributor.authorWare, Tyson L-
dc.contributor.authorWebster, Richard I-
dc.contributor.authorMalone, Stephen-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorKalnins, Renate M-
dc.contributor.authorSicca, Federico-
dc.contributor.authorKorenke, G Christoph-
dc.contributor.authorvan Ravenswaaij-Arts, Conny M A-
dc.contributor.authorHildebrand, Michael S-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorJiang, Yuwu-
dc.contributor.authorGuerrini, Renzo-
dc.contributor.authorScheffer, Ingrid E-
dc.identifier.citationNeurology 2019; 92(2): e96-e107-
dc.description.abstractTo delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos. We included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n = 53) or microdeletions (n = 4). Of the 57 patients, 56 had epilepsy: generalized in 55, with focal seizures in 7 and infantile spasms in 1. Median seizure onset age was 2 years. A novel type of drop attack was identified comprising eyelid myoclonia evolving to a myoclonic-atonic (n = 5) or atonic (n = 8) seizure. Seizure types included eyelid myoclonia with absences (65%), myoclonic seizures (34%), atypical (20%) and typical (18%) absences, and atonic seizures (14%), triggered by eating in 25%. Developmental delay preceded seizure onset in 54 of 56 (96%) patients for whom early developmental history was available. Developmental plateauing or regression occurred with seizures in 56 in the context of a developmental and epileptic encephalopathy (DEE). Fifty-five of 57 patients had intellectual disability, which was moderate to severe in 50. Other common features included behavioral problems (73%); high pain threshold (72%); eating problems, including oral aversion (68%); hypotonia (67%); sleeping problems (62%); autism spectrum disorder (54%); and ataxia or gait abnormalities (51%). SYNGAP1 mutations cause a generalized DEE with a distinctive syndrome combining epilepsy with eyelid myoclonia with absences and myoclonic-atonic seizures, as well as a predilection to seizures triggered by eating.-
dc.titleSYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.-
dc.typeJournal Article-
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia-
dc.identifier.affiliationIRCCS Stella Maris Foundation, Pisa, Italyen
dc.identifier.affiliationKlinikum Oldenburg, Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u.angeborene Stoffwechselerkrankungen, Germanyen
dc.identifier.affiliationDepartments of Genetics and Neurology, University Medical Center Groningen, University of Groningen, the Netherlands-
dc.identifier.affiliationPediatric Neurology Unit and Laboratories and Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy-
dc.identifier.affiliationDepartment of Pediatrics and Pediatric Epilepsy Centre, Peking University First Hospital, Beijing, China-
dc.identifier.affiliationDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle-
dc.identifier.affiliationPopulation Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia-
dc.identifier.affiliationDepartment of Medical Biology, University of Melbourne, Australia-
dc.identifier.affiliationCaulfield, Melbourne, Australia-
dc.identifier.affiliationDepartment of Clinical Genetics, Academic Medical Centre, Amsterdam, the Netherlands-
dc.identifier.affiliationDepartment of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, the Netherlands-
dc.identifier.affiliationDepartment of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands-
dc.identifier.affiliationTasmanian Health Service, Women's and Children's Services, Launceston General Hospital, Tasmania, Australia-
dc.identifier.affiliationTY Nelson Department of Neurology and Neurosurgery and Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales, Australia-
dc.identifier.affiliationDepartment of Neurosciences, Lady Cilento Children's Hospital, Brisbane, Australia-
dc.identifier.affiliationDepartment of Anatomical Pathology, Austin Health, Heidelberg, Victoria, Australia-
dc.identifier.affiliationCentre of Epilepsy, Beijing Institute for Brain Disorders, China-
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Royal Children's Hospital, Australia-
dc.identifier.affiliationFlorey Institute of Neurosciences and Mental Health, Australia-
dc.type.austinJournal Article-, Samuel F
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
item.cerifentitytypePublications- Research Centre- Research Centre- (University of Melbourne)- Research Centre-
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