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Title: | SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. | Austin Authors: | Vlaskamp, Danique R M;Shaw, Benjamin J;Burgess, Rosemary;Mei, Davide;Montomoli, Martino;Xie, Han;Myers, Candace T;Bennett, Mark F;XiangWei, Wenshu;Williams, Danielle;Maas, Saskia M;Brooks, Alice S;Mancini, Grazia M S;van de Laar, Ingrid M B H;van Hagen, Johanna M;Ware, Tyson L;Webster, Richard I;Malone, Stephen;Berkovic, Samuel F ;Kalnins, Renate M;Sicca, Federico;Korenke, G Christoph;van Ravenswaaij-Arts, Conny M A;Hildebrand, Michael S ;Mefford, Heather C;Jiang, Yuwu;Guerrini, Renzo;Scheffer, Ingrid E | Affiliation: | Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia IRCCS Stella Maris Foundation, Pisa, Italy Klinikum Oldenburg, Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u.angeborene Stoffwechselerkrankungen, Germany Departments of Genetics and Neurology, University Medical Center Groningen, University of Groningen, the Netherlands Pediatric Neurology Unit and Laboratories and Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy Department of Pediatrics and Pediatric Epilepsy Centre, Peking University First Hospital, Beijing, China Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia Department of Medical Biology, University of Melbourne, Australia Caulfield, Melbourne, Australia Department of Clinical Genetics, Academic Medical Centre, Amsterdam, the Netherlands Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, the Netherlands Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands Tasmanian Health Service, Women's and Children's Services, Launceston General Hospital, Tasmania, Australia TY Nelson Department of Neurology and Neurosurgery and Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales, Australia Department of Neurosciences, Lady Cilento Children's Hospital, Brisbane, Australia Department of Anatomical Pathology, Austin Health, Heidelberg, Victoria, Australia Centre of Epilepsy, Beijing Institute for Brain Disorders, China Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Australia Florey Institute of Neurosciences and Mental Health, Australia |
Issue Date: | 2019 | Date: | 2018-12-12 | Publication information: | Neurology 2019; 92(2): e96-e107 | Abstract: | To 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. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/19960 | DOI: | 10.1212/WNL.0000000000006729 | ORCID: | 0000-0002-2664-4395 0000-0003-4580-841X 0000-0003-2739-0515 0000-0002-2311-2174 |
Journal: | Neurology | PubMed URL: | 30541864 | Type: | Journal Article |
Appears in Collections: | Journal articles |
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