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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340/
https://www.ncbi.nlm.nih.gov/pubmed/30541864
http://dx.doi.org/10.1212/WNL.0000000000006729

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