SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

OBJECTIVE: To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. METHODS: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions...

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Опубликовано в: :Neurology
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: Lippincott Williams & Wilkins 2019
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6340340/
https://ncbi.nlm.nih.gov/pubmed/30541864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000006729
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