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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Detalhes bibliográficos
Autor principal: Oliveira, B.A. (author)
Outros Autores: 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)
Formato: conferenceObject
Idioma:eng
Publicado em: 2013
Assuntos:
Perturbações do Desenvolvimento Infantil e Saúde Mental
Autism
Autism Spectrum Disorders
Copy Number Variants
ASD
CNVs
Texto completo:http://hdl.handle.net/10400.18/1640
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/1640
Descrição
Resumo: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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