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Autism, epilepsy, and synaptopathies: a not rare association

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Abstract

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.

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Authors and Affiliations

  1. Adult autism Centre DSM ASL Città di Torino, cso Francia 73, 10138, Turin, Italy

    Roberto Keller & Roberta Basta

  2. INS, Institute of Neurosciences, Florence, Italy

    Luana Salerno

  3. Unit of Neurology and Clinical Neurophysiopathology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EN, Italy

    Maurizio Elia

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  1. Roberto Keller
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  2. Roberta Basta
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  3. Luana Salerno
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  4. Maurizio Elia
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Correspondence to Roberto Keller.

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Keller, R., Basta, R., Salerno, L. et al. Autism, epilepsy, and synaptopathies: a not rare association. Neurol Sci 38, 1353–1361 (2017). https://doi.org/10.1007/s10072-017-2974-x

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  • DOI: https://doi.org/10.1007/s10072-017-2974-x

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