• Etude génétique du complexe synaptique lié au récepteur NMDA et caractérisation de modèles à complexité variable dans l'autisme / Servane Alirol ; sous la direction de Frédéric Laumonnier ( PDF )

Autism is a developmental disorder of the central nervous system defined by impairments in social interaction and communication, and by restricted and repetitive behavior. Its prevalence is currently estimated at around 1% in the general population. Autism is characterized by a wide heterogeneity at both phenotypic and genetic level. To date, more than 300 candidate genes were characterized either by copy number variations (CNV) and/or nucleotide variations (SNV). Their identification has highlighted a significant contribution of de novo mutations, as well as the involvement of targeted pathophysiological pathways, particularly post-synaptic density (PSD).

• Dates
  Published on March 31, 2015, Created on March 31, 2015