ArticleMolecular autism2016
Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude.
Article in Molecular autism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 37 citations in OpenAlex.
- Genetic modulation of brain dynamics in neurodevelopmental disorders: the impact of copy number variations on resting-state EEG.Translational psychiatry · 2025Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Clinical outcomes of fetuses with chromosome 16 short arm copy number variants.Molecular genetics & genomic medicine · 2023Article
- The Autism Biomarkers Consortium for Clinical Trials: Initial Evaluation of a Battery of Candidate EEG Biomarkers.The American journal of psychiatry · 2023Article
- Sensory processing in 16p11.2 deletion and 16p11.2 duplication.Autism research : official journal of the International Society for Autism Research · 2022Article
- Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome.Journal of the American Academy of Child and Adolescent Psychiatry · 2022Article
- Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.Molecular autism · 2021Article
- Copy Number Variations Analysis Identifies QPRT as a Candidate Gene Associated With Susceptibility for Solitary Functioning Kidney.Frontiers in genetics · 2021Article
- Article
- Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review.Case reports in pediatrics · 2020Article
- Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.International journal of molecular sciences · 2019Article
- Recent Advances in the Genetics of Schizophrenia.Molecular neuropsychiatry · 2018Review
- 16p11.2 transcription factorProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Article
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Authors and funding
2 authors at 1 institution in 1 country.
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Abstract
backgroundDuplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms. However, it is unclear how changes in 16p11.2 dosage affect cortical circuitry during development. The aim of this study was to investigate whether the visual evoked potential (VEP) could be used as a noninvasive quantitative measure of cortical processing in children with 16p11.2 copy number variation.
methodsPattern-reversal VEPs were successfully recorded in 19 deletion carriers, 9 duplication carriers, and 13 typically developing children between the ages of 3 and 14 years. The stimulus was a black and white checkerboard (60') that reversed contrast at 2 Hz. VEP responses were extracted from continuous EEG recorded using a high-density elasticized electrode net.
resultsQuantitative analysis of the VEP waveform revealed that, relative to controls, deletion carriers displayed increased amplitude and duplication carriers displayed diminished amplitude. Latencies of the VEP waveform components were unaffected by 16p11.2 status. P1 amplitude did not correlate with age, IQ, or head circumference.
conclusionsThe results of this study suggest that recording VEP is a useful method to assay cortical processing in children with 16p11.2 copy number variation. There is a gene dosage-dependent effect on P1 amplitude that merits further investigation. The VEP is directly translatable to animal models, offering a promising way to probe the neurobiological mechanisms underlying cortical dysfunction in this developmental disorder.
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