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

Andres Jimenez-GomezSizhe NiuFabiola Andujar-PerezElizabeth A McQuadeAlfred BalasaDavid HussRohini CoorgMichael QuachSherry VinsonSarah RisenJ Lloyd Holder

Published in: Journal of neurodevelopmental disorders (2019)

A broad spectrum of neurologic and neurodevelopmental features are found with pathogenic variants of SYNGAP1. An abnormal posterior dominant rhythm on EEG correlated with abnormal developmental progression, providing a possible prognostic biomarker.

Keyphrases

copy number
atrial fibrillation
heart rate
functional connectivity
working memory
resting state
high density