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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Bibliografske podrobnosti
izdano v:Neurology
Main 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.
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2019
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Article
Online dostop: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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