%A Giovedí,Silvia %A Corradi,Anna %A Fassio,Anna %A Benfenati,Fabio %D 2014 %J Frontiers in Pediatrics %C %F %G English %K autism,synapse,synaptic plasticity,Synaptic Vesicles,Synaptic Transmission,Behavior, Animal,Social Behavior,mutations,knockout mice %Q %R 10.3389/fped.2014.00094 %W %L %M %P %7 %8 2014-September-04 %9 Review %+ Prof Fabio Benfenati,Department of Experimental Medicine, University of Genova,Italy,fabio.benfenati@iit.it %+ Prof Fabio Benfenati,Department of Neuroscience and Brain Technologies, Fondazione Istituto Italiano di Tecnologia,Italy,fabio.benfenati@iit.it %# %! The synaptic bases of autism spectrum disorders %* %< %T Involvement of Synaptic Genes in the Pathogenesis of Autism Spectrum Disorders: The Case of Synapsins %U https://www.frontiersin.org/articles/10.3389/fped.2014.00094 %V 2 %0 JOURNAL ARTICLE %@ 2296-2360 %X Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental disorders characterized by deficits in social interaction and social communication, restricted interests, and repetitive behaviors. Many synaptic protein genes are linked to the pathogenesis of ASDs, making them prototypical synaptopathies. An array of mutations in the synapsin (Syn) genes in humans has been recently associated with ASD and epilepsy, diseases that display a frequent comorbidity. Syns are pre-synaptic proteins regulating synaptic vesicle traffic, neurotransmitter release, and short-term synaptic plasticity. In doing so, Syn isoforms control the tone of activity of neural circuits and the balance between excitation and inhibition. As ASD pathogenesis is believed to result from dysfunctions in the balance between excitatory and inhibitory transmissions in neocortical areas, Syns are novel ASD candidate genes. Accordingly, deletion of single Syn genes in mice, in addition to epilepsy, causes core symptoms of ASD by affecting social behavior, social communication, and repetitive behaviors. Thus, Syn knockout mice represent a good experimental model to define synaptic alterations involved in the pathogenesis of ASD and epilepsy.