ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2015
Angelman Syndrome.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03650569 (Italian Angelman Syndrome Registry Project), which is not on this map. Cited by 95 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Italian Angelman Syndrome Registry Project
Who cites it
95 citing papers in PubMed, 166 citations in OpenAlex.
- Delta power robustly predicts cognitive function in Angelman syndrome.Annals of clinical and translational neurology · 2021Trial
- Trial
- Caregiver Meaningful Score Differences and Meaningful Score Regions for the Observer-Reported Communication Ability Measure for Individuals with Angelman Syndrome.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2026Article
- Establishing meaningful score differences for the observer-reported communication ability (ORCA) measure using the scale judgment approach with caregivers of individuals with Angelman syndrome.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.Journal of child psychology and psychiatry, and allied disciplines · 2026Article
- Dental rehabilitation under general anesthesia in an outpatient setting for a child with a heterozygous BCL11B variant: a case report.BMC oral health · 2026Article
- Extracellular vesicle dysfunction contributes to synaptic and cognitive deficits in a mouse model of Angelman syndrome.Progress in neurobiology · 2026Article
- Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.International journal of molecular sciences · 2026Review
- Mouse model of Angelman syndrome exhibits reduced retinal activity during development.Frontiers in neuroscience · 2026Article
- Article
- Cofilin Inhibition Ameliorates PIEZO2 and AMPA Dysfunction in a Mouse Model of Angelman Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study.Orphanet journal of rare diseases · 2025Article
- DNA methylation and machine learning: challenges and perspective toward enhanced clinical diagnostics.Clinical epigenetics · 2025Review
- Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome.Journal of neurodevelopmental disorders · 2025Article
- Perinatal Lead (Pb) Exposure Increases Mouse Embryonic Weight and Alters Neuronal Gene Expression.bioRxiv : the preprint server for biology · 2025Article
- Molecular aspects of Angelman Syndrome: Defining the new path forward.Biomolecules & biomedicine · 2025Review
- Increased Extra-Axial Cerebrospinal Fluid Volume in Children with Angelman Syndrome: Links to Sleep Problems and Seizures.Annals of the Child Neurology Society · 2025Article
- A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Significance of Behavioural Problems on Family Impact in Angelman Syndrome: A Prospective Cross-Sectional Study.Journal of autism and developmental disorders · 2025Article
- Mom genes and dad genes: genomic imprinting in the regulation of social behaviors.Epigenomics · 2025Review
35 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.