Autism spectrum disorder and epilepsy: Disorders with a shared biology

Epilepsy Behav. 2015 Jun;47:191-201. doi: 10.1016/j.yebeh.2015.03.017. Epub 2015 Apr 19.


There is an increasing recognition of clinical overlap in patients presenting with epilepsy and autism spectrum disorder (ASD), and a great deal of new information regarding the genetic causes of both disorders is available. Several biological pathways appear to be involved in both disease processes, including gene transcription regulation, cellular growth, synaptic channel function, and maintenance of synaptic structure. We review several genetic disorders where ASD and epilepsy frequently co-occur, and we discuss the screening tools available for practicing neurologists and epileptologists to help determine which patients should be referred for formal ASD diagnostic evaluation. Finally, we make recommendations regarding the workflow of genetic diagnostic testing available for children with both ASD and epilepsy. This article is part of a Special Issue entitled "Autism and Epilepsy".

Keywords: Autism; Autism spectrum disorder; Epilepsy; Genetic testing.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Autism Spectrum Disorder / complications*
  • Autism Spectrum Disorder / genetics
  • Autism Spectrum Disorder / physiopathology*
  • Child
  • Epilepsy / complications*
  • Epilepsy / genetics
  • Epilepsy / physiopathology*
  • Gene Expression Regulation
  • Genetic Testing
  • Humans
  • Synapses