Cited by 162Epilepsy research and treatmentAutism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Epilepsy and autism spectrum disorders: are there common developmental mechanisms?

Brooks-Kayal, Amy·2010·Brain and Development

Abstract

Autistic spectrum disorders (ASD) and epilepsies are heterogeneous disorders that have diverse etiologies and pathophysiologies. The high rate of co-occurrence of these disorders suggest potentially shared underlying mechanisms. A number of well-known genetic disorders share epilepsy and autism as prominent phenotypic features, including tuberous sclerosis, Rett syndrome, and fragile X. In addition, mutations of several genes involved in neurodevelopment, including ARX, DCX, neuroligins and neuropilin2 have been identified in children with epilepsy, ASD or often both. Finally, in animal models, early-life seizures can result in cellular and molecular changes that could contribute to learning and behavioral disabilities as seen in ASD. Increased understanding of the common genetic, molecular and cellular mechanisms of ASD and epilepsy may provide insight into their underlying pathophysiology and elucidate new therapeutic approaches of both conditions.

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Crossref · 10.1016/j.braindev.2010.04.010

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  • About 30% of patients with ASD also have epilepsy, and about 30% of patients with epilepsy have been diagnosed with ASD.

    “As they argued, and as recent studies have reminded us, 30% of patients with an ASD also have epilepsy, and 30% of patients with epilepsy have been diagnosed with an ASD (Bolton et al., 2011; Brooks-Kayal, 2010; Tuchman et al., 2009).”

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Authors
Brooks-Kayal, A.
Venue
Brain and Development
Publisher
Elsevier BV
Published
2010-10
Volume
32
Issue
9
Pages
731-738
ISSN
0387-7604 (ISSN-L)
OpenAlex
W1973769804
Cited by
162
References
68
Citations by year
2026: 3 · 2025: 5 · 2024: 6 · 2023: 4 · 2022: 4 · 2021: 12 · 2020: 8 · 2019: 8 · 2018: 13 · 2017: 13 · 2016: 13 · 2015: 17 · 2014: 14 · 2013: 11 · 2012: 14
FWCI
9.16
Type
journal article
Language
en
Open access
closed
Locations
  • Brain and Development (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
epilepsy, autism spectrum disorder, developmental mechanisms, genetic disorders, tuberous sclerosis complex, Rett syndrome, fragile X syndrome, ARX, doublecortin, neuroligins, neuropilin-2, early-life seizures, animal models, shared pathophysiology
MeSH terms
Brain, Child, Developmental Disabilities, Child Development Disorders, Pervasive, Epilepsy, Humans, Models, Biological, Mutation, Transcription Factors, Homeodomain Proteins, Neuropilin-2

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