The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions

The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions

Synaptic gene conditions, i.e., “synaptopathies,” involve disruption to genes expressed at the synapse and account for between 0.5 and 2% of autism cases. They provide a unique entry point to understanding the molecular and biological mechanisms underpinning autism-related phenotypes. Phelan-McDermi...

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Bibliographic Details
Main Authors: Jennifer Cooke, Ciara J. Molloy, Antonia San José Cáceres, Thomas Dinneen, Thomas Bourgeron, Declan Murphy, Louise Gallagher, Eva Loth
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Neuroscience
Subjects:
synaptopathies
autism
rare genetic variants
biomarker
Phelan-McDermid syndrome
NRXN1 deletion
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2022.806990/full

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