SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

DRM Vlaskamp; BJ Shaw; R Burgess; D Mei; M Montomoli; H Xie; CT Myers; MF Bennett; W Xiangwei; D Williams; SM Maas; AS Brooks; GMS Mancini; IMBH Van De Laar; JM Van Hagen; TL Ware; RI Webster; S Malone; SF Berkovic; RM Kalnins; F Sicca; GC Korenke; CMA Van Ravenswaaij-Arts; MS Hildebrand; HC Mefford; Y Jiang; R Guerrini; IE Scheffer

Journal article

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

DRM Vlaskamp, BJ Shaw, R Burgess, D Mei, M Montomoli, H Xie, CT Myers, MF Bennett, W Xiangwei, D Williams, SM Maas, AS Brooks, GMS Mancini, IMBH Van De Laar, JM Van Hagen, TL Ware, RI Webster, S Malone, SF Berkovic, RM Kalnins Show all

Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2019

DOI: 10.1212/WNL.0000000000006729

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Abstract

To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort.MethodsPatients 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.ResultsWe 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 nov..

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University of Melbourne Researchers

Mark Bennett Author

Sam Berkovic Author

Michael Hildebrand Author

Ingrid Scheffer Author

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Grants

Awarded by Seventh Framework Programme

Funding Acknowledgements

Danique R.M. Vlaskamp has received an unrestricted travel grant from the Dutch Society of Child Neurology, Jo Kolk Foundation, and the Research School of Behavioural and Cognitive Neurosciences. Han Xie is supported by the National Natural Science Foundation of China (Youth Foundation) (grant 81501123). Mark F. Bennett is supported by the Victorian State Government Operational Infrastructure Support and Australian Government National Health and Medical Research Council Independent Research Institute Infrastructure Support Scheme. Yuwu Jiang is supported by the Chinese National Key Research Project (2016YFC1306200, 2016-2020). This work was supported in part by a grant from the EU Seventh Framework Programme FP7 under the project DESIRE (grant agreement 602531) to Renzo Guerrini. Ingrid E. Scheffer is supported by a National Health and Medical Research Council Program Grant (1091593, 2016-2020) and Senior Practitioner Fellowship (1104831, 2016-2020).