title: Autism spectrum disorder and epilepsy: Disorders with a shared biology.
abstract: 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".
authors.affiliation: Department of Pediatrics, University of Rochester Medical Center, Rochester, NY, USA.
authors.forename: Bo Hoon
authors.initials: BH
authors.lastname: Lee
authors.affiliation: Division of Neurodevelopmental and Behavioral Pediatrics, Department of Pediatrics, University of Rochester Medical Center, Rochester, NY, USA.
authors.forename: Tristram
authors.initials: T
authors.lastname: Smith
authors.affiliation: Department of Pediatrics, University of Rochester Medical Center, Rochester, NY, USA; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA; Department of Biomedical Genetics, University of Rochester Medical Center, Rochester, NY, USA; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY, USA. Electronic address: Alex_Paciorkowski@urmc.rochester.edu.
authors.forename: Alex R
authors.initials: AR
authors.lastname: Paciorkowski
mesh_terms: D000067877:Autism Spectrum Disorder / Q000150:complications* / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D004827:Epilepsy / Q000150:complications* / Q000235:genetics / Q000503:physiopathology*; D005786:Gene Expression Regulation; D005820:Genetic Testing; D006801:Humans; D013569:Synapses
keywords: Autism; Autism spectrum disorder; Epilepsy; Genetic testing