ArticlePloS one2016
A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.
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Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 87 citations in OpenAlex.
- Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.Journal of neurodevelopmental disorders · 2025Pooled it
- Resting-state EEG power differences in autism spectrum disorder: a systematic review and meta-analysis.Translational psychiatry · 2023Pooled it
- Mechanisms underlying the EEG biomarker in Dup15q syndrome.Molecular autism · 2019Trial
- Article
- Excess EEG beta-band oscillations in Dup15q syndrome correlate with clinical severity.Translational psychiatry · 2026Article
- Benchmarking the utility of dry-electrode electroencephalography for clinical trials.Scientific reports · 2025Article
- The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.Nature medicine · 2025Article
- Leveraging AI-Driven Neuroimaging Biomarkers for Early Detection and Social Function Prediction in Autism Spectrum Disorders: A Systematic Review.Healthcare (Basel, Switzerland) · 2025Review
- Genetic modulation of brain dynamics in neurodevelopmental disorders: the impact of copy number variations on resting-state EEG.Translational psychiatry · 2025Article
- Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures.Journal of neurodevelopmental disorders · 2025Article
- Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome.Journal of neurodevelopmental disorders · 2024Article
- Resting state EEG in young children with Tuberous Sclerosis Complex.Research square · 2024Article
- Developmental trajectories of EEG aperiodic and periodic components: Implications for understanding thalamocortical development during infancy.bioRxiv : the preprint server for biology · 2024Article
- Investigation of Electrical Signals in the Brain of People with Autism Using Effective Connectivity Network.Journal of medical signals and sensors · 2024Article
- Frontal EEG alpha asymmetry in youth with autism: Sex differences and social-emotional correlates.Autism research : official journal of the International Society for Autism Research · 2023Article
- Pubertal maturation and timing effects on resting state electroencephalography in autistic and comparison youth.Developmental psychobiology · 2023Article
- Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics.Communications biology · 2022Article
- From mechanisms to markers: novel noninvasive EEG proxy markers of the neural excitation and inhibition system in humans.Translational psychiatry · 2022Review
- Novel clinical, molecular and bioinformatics insights into the genetic background of autism.Human genomics · 2022Article
- Predicting Math Ability Using Working Memory, Number Sense, and Neurophysiology in Children and Adults.Brain sciences · 2022Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundDuplications of 15q11.2-q13.1 (Dup15q syndrome) are highly penetrant for autism spectrum disorder (ASD). A distinct electrophysiological (EEG) pattern characterized by excessive activity in the beta band has been noted in clinical reports. We asked whether EEG power in the beta band, as well as in other frequency bands, distinguished children with Dup15q syndrome from those with non-syndromic ASD and then examined the clinical correlates of this electrophysiological biomarker in Dup15q syndrome.
methodsIn the first study, we recorded spontaneous EEG from children with Dup15q syndrome (n = 11), age-and-IQ-matched children with ASD (n = 10) and age-matched typically developing (TD) children (n = 9) and computed relative power in 6 frequency bands for 9 regions of interest (ROIs). Group comparisons were made using a repeated measures analysis of variance. In the second study, we recorded spontaneous EEG from a larger cohort of individuals with Dup15q syndrome (n = 27) across two sites and examined age, epilepsy, and duplication type as predictors of beta power using simple linear regressions.
resultsIn the first study, spontaneous beta1 (12-20 Hz) and beta2 (20-30 Hz) power were significantly higher in Dup15q syndrome compared with both comparison groups, while delta (1-4 Hz) was significantly lower than both comparison groups. Effect sizes in all three frequency bands were large (|d| > 1). In the second study, we found that beta2 power was significantly related to epilepsy diagnosis in Dup15q syndrome.
conclusionsHere, we have identified an electrophysiological biomarker of Dup15q syndrome that may facilitate clinical stratification, treatment monitoring, and measurement of target engagement for future clinical trials. Future work will investigate the genetic and neural underpinnings of this electrophysiological signature as well as the functional consequences of excessive beta oscillations in Dup15q syndrome.
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