Copy number variants involving components of the glutamatergic synaptic pathway...

• Autor(es): Oliveira, B.A. ; Conceição, I.C. ; Correia, C.A. ; Café, C. ; Almeida, J. ; Mouga, S. ; Duque, F. ; Oliveira, G. ; Vicente, A.M.
• Data: 2012
• Identificador Persistente: http://hdl.handle.net/10400.18/1120
• Origem: Repositório Científico do Instituto Nacional de Saúde
• Assunto(s): Perturbações do Desenvolvimento Infantil e Saúde Mental; Autism; ASD
• Tipo de Documento: Documento de conferência
• Idioma: Inglês

Descrição

This work was supported by the fellowships SFRH/BD/79081/2011 to BO, SFRH/BPD/74739/2010 to ICC and SFRH/BPD/64281/2009 to CC from Fundação para a Ciência e a Tecnologia (FCT; Portugal). Copy Number Variants (CNVs) play an important role in susceptibility to Autism Spectrum Disorders (ASD), in particular when deleting or duplicating genes involved in synaptic structure and function such as glutamatergic synapse genes. Identifying CNVs of etiologic relevance for ASD that include glutamatergic genes may contribute to the understanding of glutamate-related pathogenic mechanisms in this disorder.