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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Detalles Bibliográficos
Autores principales: Cooke, Jennifer, Molloy, Ciara J., Cáceres, Antonia San José, Dinneen, Thomas, Bourgeron, Thomas, Murphy, Declan, Gallagher, Louise, Loth, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8894872/
https://www.ncbi.nlm.nih.gov/pubmed/35250452
http://dx.doi.org/10.3389/fnins.2022.806990

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8894872/
https://www.ncbi.nlm.nih.gov/pubmed/35250452
http://dx.doi.org/10.3389/fnins.2022.806990

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