ReviewJournal of medical genetics2003
Angelman syndrome: a review of the clinical and genetic aspects.
Review in Journal of medical genetics, 2003. 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 186 papers, 1 of them a synthesis that pooled it.
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
186 citing papers in PubMed, 1 synthesis or guideline pooled it, 685 citations in OpenAlex.
- Neurodegenerative Biomarkers in Populations with Intellectual Disabilities: Diagnostic and Therapeutic Capacities.International journal of molecular sciences · 2025Pooled it
- A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study).Orphanet journal of rare diseases · 2018Trial
- An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome.BMC neurology · 2014Trial
- A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.American journal of medical genetics. Part A · 2011Trial
- 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
- Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life.Journal of neurodevelopmental disorders · 2026Article
- Operant behavior is reliably impaired in a mouse model of Angelman syndrome.Research square · 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
- Association of the Observer-Reported Communication Ability (ORCA) Measure with Established Communication Measures: Insights From the Angelman Syndrome Natural History Study.Journal of autism and developmental disorders · 2026Article
- Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers' survey.Orphanet journal of rare diseases · 2025Article
- CRISPR-Cas9-induced double-strand breaks disrupt maintenance of epigenetic information.Genome biology · 2025Article
- 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
- The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.Nature medicine · 2025Article
- 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
- Remote EEG acquisition in Angelman syndrome using PANDABox-EEG.Journal of neurodevelopmental disorders · 2025Article
- Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls.Orphanet journal of rare diseases · 2025Article
- Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?Trends in neurosciences · 2024Review
- Ube3a unsilencer for the potential treatment of Angelman syndrome.Nature communications · 2024Article
126 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
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. Most children present with delay in developmental milestones and slowing of head growth during the first year of life. In the majority of cases speech does not develop. Patients with AS have a characteristic behavioural phenotype with jerky movements, frequent and sometimes inappropriate laughter, a love of water, and sleep disorder. The facial features are subtle and include a wide, smiling mouth, prominent chin, and deep set eyes. It is caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region, which is subject to genomic imprinting. These include maternal deletion, paternal uniparental disomy, imprinting defects, and point mutations or small deletions within the UBE3A gene, which lies within this region. UBE3A shows tissue specific imprinting, being expressed exclusively from the maternal allele in brain. The genetic mechanisms identified so far in AS are found in 85-90% of those with the clinical phenotype and all interfere with UBE3A expression.
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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.