Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

BACKGROUND: The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental disorders including autism, intellectual disability, and epilepsy. The purpose o...

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Detalles Bibliográficos
Autores principales: Jimenez-Gomez, Andres, Niu, Sizhe, Andujar-Perez, Fabiola, McQuade, Elizabeth A., Balasa, Alfred, Huss, David, Coorg, Rohini, Quach, Michael, Vinson, Sherry, Risen, Sarah, Holder, J. Lloyd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688356/
https://www.ncbi.nlm.nih.gov/pubmed/31395010
http://dx.doi.org/10.1186/s11689-019-9276-y

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