Current Neurology and Neuroscience Reports

, Volume 11, Issue 4, pp 428–434 | Cite as

Epilepsy and Autism: Neurodevelopmental Perspective



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.


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



M. Cuccaro has received a grant from the National Institutes of Health supporting his work in autism.


Conflicts of interest: R. Tuchman: receives royalties as a co-editor for the book Autism: A Neurological Disorder of Early Brain Development, and he serves on the Scientific Advisory Committee for Autism Speaks; M. Cuccaro: none.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Department of Neurology Miami Children’s HospitalDan Marino CenterWestonUSA
  2. 2.Department of Neurology, Herbert Wertheim College of MedicineFlorida International UniversityMiamiUSA
  3. 3.Department of Human Genetics, John P. Hussman Institute for Human GenomicsUniversity of Miami Miller School of MedicineMiamiUSA

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