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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Principais autores:	Jennifer Cooke, Ciara J. Molloy, Antonia San José Cáceres, Thomas Dinneen, Thomas Bourgeron, Declan Murphy, Louise Gallagher, Eva Loth
Formato:	Artigo
Idioma:	Inglês
Publicado:	Frontiers Media S.A. 2022-02-01
Series:	Frontiers in Neuroscience
Assuntos:	synaptopathies autism rare genetic variants biomarker Phelan-McDermid syndrome NRXN1 deletion
Acceso en liña:	https://www.frontiersin.org/articles/10.3389/fnins.2022.806990/full
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