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CC BY-NC-ND 4.0 · International Journal of Epilepsy
DOI: 10.1055/s-0045-1809042
Review Article

Autism Spectrum Disorder and Epilepsy: Point of Convergence or Divergence

Karthika Ajit Valaparambil
1   Department of Pediatric Neurology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India
,
Soumya Sundaram 
2   Department of Neurology, Pediatric Neurology and Neurodevelopmental Disorders, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
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Funding None.
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Abstract

Autism spectrum disorder (ASD) is characterized by deficits in social communication and interaction in various contexts, along with restrictive and repetitive behaviors. Individuals with ASD often have cooccurring neurodevelopmental, neuropsychiatric, and neurological disorders. The prevalence of epilepsy in ASD ranges from 2 to 60%. The notable association between autism and epilepsy highlight the shared neurobiological features in both conditions that include synaptic dysfunction, abnormalities in cell signalling and proliferation, chromatin modification and transcription, and an imbalance between excitation and inhibition. Recent advances in next-generation sequencing techniques have revealed similar etiological and molecular mechanisms underlying autism and epilepsy through the identification of various genes linked to their pathophysiological processes. Older age, female sex, the presence of intellectual disability, developmental delay, and severe symptoms of autism are risk factors for epilepsy reported in autistic individuals. In this review, we will focus on the underlying molecular mechanisms, clinical characteristics, predictive factors for developing epilepsy in autism, and the common genetic disorders associated with the ASD-epilepsy phenotype.

Key Points

  • The prevalence of epilepsy in ASD ranges from 2 to 60%.

  • Shared pathobiology in ASD and epilepsy involves synaptic dysfunction, abnormalities in cell signalling and proliferation, chromatin modification and transcription, and excitation and inhibition imbalance.

  • Older age, female sex, the presence of intellectual disabilities, developmental delays, and severe symptoms of autism are risk factors for epilepsy in individuals with autism.

Keywords

autism - epilepsy - autism spectrum disorder - genetic - pathophysiology - ASD-epilepsy phenotype

Authors' Contributions

K.A.V.: Drafting of manuscript.


S.S.: Concept, drafting, and critical revision of manuscript.




Publication History

Article published online:
13 May 2025

© 2025. Indian Epilepsy Society. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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