Neurological Sciences

, Volume 38, Issue 8, pp 1353–1361 | Cite as

Autism, epilepsy, and synaptopathies: a not rare association

  • Roberto KellerEmail author
  • Roberta Basta
  • Luana Salerno
  • Maurizio Elia
Review Article


Autism spectrum disorders (ASD) are neurodevelopmental disorders typically diagnosed in childhood, characterized by core social dysfunction, rigid and repetitive behaviors, restricted interests, and abnormal sensorial sensitivity. ASD belong to multifactorial diseases: both genetic and environmental factors have been considered as potential risk factors for their onset. ASD are often associated with neurological conditions: the co-occurrence of epilepsy is well documented and there is also evidence of a higher prevalence of EEG abnormalities with 4–86% of individuals with ASD presenting epileptiform or not epileptiform EEG abnormalities. The presence of epilepsy in people with ASD may be determined by several structural alterations, genetic conditions, or metabolic dysfunctions, known to play a role in the emergence of both epilepsy and autism. The purpose of this article is to discuss precisely such latter cause of the autism–epilepsy association, focusing specifically on those “synaptic genes,” whose mutation predisposes to both the diseases.


Autism spectrum disorder Epilepsy Genetic Synapse 


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Copyright information

© Springer-Verlag Italia 2017

Authors and Affiliations

  • Roberto Keller
    • 1
    Email author
  • Roberta Basta
    • 1
  • Luana Salerno
    • 2
  • Maurizio Elia
    • 3
  1. 1.Adult autism Centre DSM ASL Città di TorinoTurinItaly
  2. 2.INS, Institute of NeurosciencesFlorenceItaly
  3. 3.Unit of Neurology and Clinical NeurophysiopathologyOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS)TroinaItaly

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