Epilepsy and autism: Neurodevelopmental perspective

Roberto Tuchman, Michael Cuccaro

Research output: Contribution to journalArticlepeer-review

88 Scopus citations


Epilepsy and autism coexist in up to 20% of children with either disorder. Current studies suggest that a frequent co-occurring condition in epilepsy and autism is intellectual disability, which shows a very high prevalence in those with both autism and epilepsy. In addition, these recent studies suggest that early-onset seizures may index a group of infants at high risk for developing autism, usually with associated intellectual deficits. In this review we discuss recent advances in the conceptualization of shared anatomical and molecular mechanisms that may account for the coexistence of epilepsy, autism, and intellectual disability. A major contribution to our improved understanding of the relationship among these three phenotypes is the discovery of multiple genomic variants that cut across them as well as other neurobehavioral phenotypes. As these discoveries continue they are very likely to elucidate causal mechanisms for the various phenotypes and pinpoint biologic pathways that may be amenable to therapeutic interventions for this group of neurodevelopmental disorders.

Original languageEnglish (US)
Pages (from-to)428-434
Number of pages7
JournalCurrent neurology and neuroscience reports
Issue number4
StatePublished - Aug 2011


  • Autism
  • Autism spectrum disorders
  • Epilepsy
  • Genetics
  • Intellectual disability
  • Molecular pathways
  • Neurodevelopmental disorders
  • Seizures

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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