Adult Phenotype of SYNGAP1-DEE

BACKGROUND AND OBJECTIVES: SYNGAP1 variants are associated with rare developmental and epileptic encephalopathies (DEEs). Although SYNGAP1-related childhood phenotypes are well characterized, the adult phenotype remains ill-defined. We sought to investigate phenotypes and outcomes in adults with SYN...

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Detalles Bibliográficos
Autores principales: Rong, Marlene, Benke, Tim, Zulfiqar Ali, Quratulain, Aledo-Serrano, Ángel, Bayat, Allan, Rossi, Alessandra, Devinsky, Orrin, Qaiser, Farah, Ali, Anum S., Fasano, Alfonso, Bassett, Anne S., Andrade, Danielle M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692795/
https://www.ncbi.nlm.nih.gov/pubmed/38045990
http://dx.doi.org/10.1212/NXG.0000000000200105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692795/
https://www.ncbi.nlm.nih.gov/pubmed/38045990
http://dx.doi.org/10.1212/NXG.0000000000200105

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