ArticleBiological psychiatry2019
Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes.
Article in Biological psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 2 of them syntheses that pooled it.
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Who cites it
59 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A methodological guideline for consciousness assessment via neural electrophysiological activity.Military Medical Research · 2025Guideline
- Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.Journal of neurodevelopmental disorders · 2025Pooled it
- A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAJournal of neurodevelopmental disorders · 2022Trial
- Delta power robustly predicts cognitive function in Angelman syndrome.Annals of clinical and translational neurology · 2021Trial
- Mechanisms underlying the EEG biomarker in Dup15q syndrome.Molecular autism · 2019Trial
- Cortical Hyperexcitability Shapes Large-Scale Brain Dynamics and Behavioral Outcome in Angelman Syndrome.Biological psychiatry global open science · 2026Article
- Region-dependent differences in tonic inhibition underlie epileptic features in Angelman syndrome model mice.Epilepsia · 2026Article
- Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University.Pediatric research · 2026Article
- Periodic and aperiodic contributions to EEG delta power are translatable and complementary Angelman syndrome biomarkers.Communications medicine · 2026Article
- Excess EEG beta-band oscillations in Dup15q syndrome correlate with clinical severity.Translational psychiatry · 2026Article
- RO4938581, a GABAMolecular psychiatry · 2026Article
- The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.Nature medicine · 2025Article
- Angelman syndrome patient-derived neuron screen leads to clinical ASO rugonersen targeting UBE3A-ATS with long-lasting effect in monkeys.Nucleic acids research · 2025Article
- Remote EEG acquisition in Angelman syndrome using PANDABox-EEG.Journal of neurodevelopmental disorders · 2025Article
- Exploring the neuromagnetic signatures of cognitive decline from mild cognitive impairment to Alzheimer's disease dementia.EBioMedicine · 2025Article
- GREEN: A lightweight architecture using learnable wavelets and Riemannian geometry for biomarker exploration with EEG signals.Patterns (New York, N.Y.) · 2025Article
- Preclinical pharmacology of alogabat: a novel GABAFrontiers in pharmacology · 2025Article
- Dimensionality reduction of quantitative EEG and clinical profiles uncover associations with monogenic neurodevelopmental phenotypes in SNAREopathies.Frontiers in neuroscience · 2025Article
- Exaggerated T-wave alternans in children with Angelman syndrome.Annals of the Child Neurology Society · 2024Article
- Quantitative EEG biomarkers for STXBP1-related disorders.Epilepsia · 2024Article
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15 authors.
Funding
Abstract
backgroundAngelman syndrome (AS) is a severe neurodevelopmental disorder caused by either disruptions of the gene UBE3A or deletion of chromosome 15 at 15q11-q13, which encompasses UBE3A and several other genes, including GABRB3, GABRA5, GABRG3, encoding gamma-aminobutyric acid type A receptor subunits (β3, α5, γ3). Individuals with deletions are generally more impaired than those with other genotypes, but the underlying pathophysiology remains largely unknown. Here, we used electroencephalography (EEG) to test the hypothesis that genes other than UBE3A located on 15q11-q13 cause differences in pathophysiology between AS genotypes.
methodsWe compared spectral power of clinical EEG recordings from children (1-18 years of age) with a deletion genotype (n = 37) or a nondeletion genotype (n = 21) and typically developing children without Angelman syndrome (n = 48).
resultsWe found elevated theta power (peak frequency: 5.3 Hz) and diminished beta power (peak frequency: 23 Hz) in the deletion genotype compared with the nondeletion genotype as well as excess broadband EEG power (1-32 Hz) peaking in the delta frequency range (peak frequency: 2.8 Hz), shared by both genotypes but stronger for the deletion genotype at younger ages.
conclusionsOur results provide strong evidence for the contribution of non-UBE3A neuronal pathophysiology in deletion AS and suggest that hemizygosity of the GABRB3-GABRA5-GABRG3 gene cluster causes abnormal theta and beta EEG oscillations that may underlie the more severe clinical phenotype. Our work improves the understanding of AS pathophysiology and has direct implications for the development of AS treatments and biomarkers.
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