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

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

Abstract 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 p...

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Bibliographic Details
Main Authors: Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A. McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen, J. Lloyd Holder
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Journal of Neurodevelopmental Disorders
Subjects:
SYNGAP1
Autism
Neurodevelopment
Electroencephalogram
Posterior dominant rhythm
Online Access:http://link.springer.com/article/10.1186/s11689-019-9276-y

Internet

http://link.springer.com/article/10.1186/s11689-019-9276-y

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