Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Eti...

• Autor(es): Oliveira, B.A. ; Correia, C.A. ; Conceição, I.C. ; Café, C. ; Almeida, J. ; Mouga, S. ; Duque, F. ; Oliveira, G. ; Vicente, A.M.
• Data: 2013
• Identificador Persistente: http://hdl.handle.net/10400.18/1640
• Origem: Repositório Científico do Instituto Nacional de Saúde
• Assunto(s): Perturbações do Desenvolvimento Infantil e Saúde Mental; Autism; Autism Spectrum Disorders; Copy Number Variants; ASD; CNVs
• Tipo de Documento: Documento de conferência
• Idioma: Inglês

Descrição

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