Convulsing toward the pathophysiology of autism
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The autisms and epilepsies are heterogeneous disorders that have diverse etiologies and pathologies. The severity of impairment and of symptoms associated with autism or with particular epilepsy syndromes reflects focal or global, structurally abnormal or dysfunctional neuronal networks. The complex relationship between autism and epilepsy, as reflected in the autism-epilepsy phenotype, provides a bridge to further knowledge of shared neuronal networks that can account for both the autisms and the epilepsies. Although epilepsy is not a causal factor for autism, increased understanding of common genetic and molecular biological mechanisms of the autism-epilepsy phenotype has provided insight into the pathophysiology of the autisms. The autism-epilepsy phenotype provides a novel model to the study of interventions that may have a positive modulating effects on social cognitive outcome.
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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).”
From Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops (2016) · cites this paper as Tuchman et al., 2009
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Pathogenesis of Autism: A Patchwork of Genetic Causes
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- Authors
- Tuchman, R., Moshé, S. L., & Rapin, I.
- Affiliations
- University of Miami (US)
- Albert Einstein College of Medicine (US)
- Corresponding author
- Tuchman, Roberto
- ORCID
- Moshé, Solomon L.
- Venue
- Brain and Development
- Publisher
- Elsevier BV
- Published
- 2009-02
- Volume
- 31
- Issue
- 2
- Pages
- 95-103
- ISSN
- 0387-7604 (ISSN-L)
- PMC
- PMC2734903
- OpenAlex
- W2124851664
- Cited by
- 142
- References
- 133
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 2 · 2022: 4 · 2021: 10 · 2020: 5 · 2019: 4 · 2018: 12 · 2017: 9 · 2016: 10 · 2015: 9 · 2014: 8 · 2013: 20 · 2012: 10
- FWCI
- 0.91
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Brain and Development (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (NS‐20253, R01NS020253, R56NS020253)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Keywords
- autism spectrum disorder, epilepsy, pathophysiology, neuronal networks, genetic mechanisms, molecular mechanisms, social cognition
- MeSH terms
- Autistic Disorder, Cognition, Epilepsy, Humans, Nerve Net, Phenotype, Regression, Psychology, Risk Factors, Age of Onset
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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