Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes

Copy Number Variants (CNVs) play an important role in susceptibility to ASD, often mediated by the deletion or duplication of genes involved in synaptic structure and function. Increasing evidence suggests a central role for defects in synaptic structure and function in the pathogenesis of non-syndr...

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Bibliographic Details
Main Author: Oliveira, B.A. (author)
Other Authors: Correia, C.A. (author), Conceição, I.C. (author), Café, C. (author), Almeida, J. (author), Mouga, S. (author), Duque, F. (author), Oliveira, G. (author), Vicente, A.M. (author)
Format: conferenceObject
Language:eng
Published: 2013
Subjects:
Perturbações do Desenvolvimento Infantil e Saúde Mental
Autism
Autism Spectrum Disorders
Copy Number Variants
ASD
CNVs
Online Access:http://hdl.handle.net/10400.18/1640
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/1640
Description
Summary:Copy Number Variants (CNVs) play an important role in susceptibility to ASD, often mediated by the deletion or duplication of genes involved in synaptic structure and function. Increasing evidence suggests a central role for defects in synaptic structure and function in the pathogenesis of non-syndromic ASD. In this study we tested the hypothesis of an enrichment in CNVs encompassing synaptic transmission genes in ASD

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