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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2019
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados