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Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2
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Children who carry one variant of a brain protein associated with autism exhibit fewer long-range connections between the prefrontal cortex and more posterior brain regions.
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“CNTNAP2 has been identified as an ASD risk gene affecting primarily frontal lobe connectivity (Arking et al. 2008; Scott-Van Zeeland et al. 2010).”
From Dysfunctional Autism Risk Genes Cause Circuit-Specific Connectivity Deficits With Distinct Developmental Trajectories (2018) · cites this paper as Scott-Van Zeeland et al. 2010
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“These findings support the “developmental disconnection model” of the DMN in ASD, which could be related to the reduced number of GABAergic interneurons in these same regions (Scott-Van Zeeland et al. 2010)”
From Dysfunctional Autism Risk Genes Cause Circuit-Specific Connectivity Deficits With Distinct Developmental Trajectories (2018) · cites this paper as Scott-Van Zeeland et al. 2010
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Metadata
- Authors
- Scott-Van Zeeland, A. A., Abrahams, B. S., Alvarez-Retuerto, A. I., Sonnenblick, L. I., Rudie, J. D., Ghahremani, D., Mumford, J. A., Poldrack, R. A., Dapretto, M., Geschwind, D. H., & Bookheimer, S. Y.
- Affiliations
- Center for Cognitive Neuroscience, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
- University of California, Los Angeles (US)
- Corresponding author
- Abrahams, Brett S.
- Geschwind, Daniel H.
- Bookheimer, Susan Y.
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2010-11-03
- Volume
- 2
- Issue
- 56
- Pages
- 56ra80-56ra80
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC3065863
- OpenAlex
- W2127753140
- Cited by
- 252
- References
- 41
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 4 · 2023: 12 · 2022: 16 · 2021: 11 · 2020: 13 · 2019: 14 · 2018: 12 · 2017: 23 · 2016: 24 · 2015: 19 · 2014: 10 · 2013: 29 · 2012: 31
- FWCI
- 16.82
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Autism Speaks (AS1626)
- National Institute of Mental Health (F31MH079645, R01MH081754, T32MH073526)
- National Center for Research Resources (P41RR013642, RR 13642, RR00865, M01RR000865, UL1RR025774, C06RR012169)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD035470, P50-HD055784-03S1, P50HD055784, R01HD065280)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Functional Brain Connectivity Studies
- Keywords
- CNTNAP2, autism spectrum disorder, functional connectivity, genotype-phenotype correlation, neurexin, common genetic variants, neurodevelopmental disorders, specific language impairment, human brain imaging
- MeSH terms
- Autistic Disorder, Frontal Lobe, Humans, Magnetic Resonance Imaging, Membrane Proteins, Nerve Tissue Proteins, Neural Pathways, Risk Factors, Genetic Predisposition to Disease
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