ArticleNeuropsychiatric disease and treatment2008
Behavior and neuropsychiatric manifestations in Angelman syndrome.
Article in Neuropsychiatric disease and treatment, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 108 citations in OpenAlex.
- An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome.BMC neurology · 2014Trial
- Region-dependent differences in tonic inhibition underlie epileptic features in Angelman syndrome model mice.Epilepsia · 2026Article
- Mouse model of Angelman syndrome exhibits reduced retinal activity during development.Frontiers in neuroscience · 2026Article
- Vision In SyndrOmic Neurodevelopmental disorders-15q (VISiON-15q) study: eye tracking to supplement clinical examination for detection of cerebral/cortical visual impairment in children with Angelman and Duplication of 15q Syndromes.Frontiers in human neuroscience · 2026Article
- Behavioral and molecular insights into anxiety in ube3a and fmr1 zebrafish models of autism spectrum disorders.Translational psychiatry · 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
- Imprinting disorders as a window to understand pediatric feeding disorders.Orphanet journal of rare diseases · 2025Article
- Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.Journal of autism and developmental disorders · 2024Article
- Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Behavioral and Psychiatric Disorders in Syndromic Autism.Brain sciences · 2024Review
- Social attention and social-emotional modulation of attention in Angelman syndrome: an eye-tracking study.Scientific reports · 2023Article
- Correlation and predictive ability of sensory characteristics and social interaction in children with autism spectrum disorder.Frontiers in psychiatry · 2023Article
- Generation and Characterization of a Novel Angelman Syndrome Mouse Model with a Full Deletion of theCells · 2022Article
- Review
- The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis.Journal of neurodevelopmental disorders · 2022Article
- Inter-Species Rescue of Mutant Phenotype-The Standard for Genetic Analysis of Human Genetic Disorders inInternational journal of molecular sciences · 2022Review
- Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice.Brain : a journal of neurology · 2021Article
- Review
- Refining the Behavioral Phenotype of Angelman Syndrome: Examining Differences in Motivation for Social Contact Between Genetic Subgroups.Frontiers in behavioral neuroscience · 2021Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Angelman syndrome has been suggested as a disease model of neurogenetic developmental condition with a specific behavioral phenotype. It is due to lack of expression of the UBE3A gene, an imprinted gene located on chromosome 15q. Here we review the main features of this phenotype, characterized by happy demeanor with prominent smiling, poorly specific laughing and general exuberance, associated with hypermotor behavior, stereotypies, and reduced behavioral adaptive skills despite proactive social contact. All these phenotypic characteristics are currently difficult to quantify and have been subject to some differences in interpretation. For example, prevalence of autistic disorder is still debated. Many of these features may occur in other syndromic or nonsyndromic forms of severe intellectual disability, but their combination, with particularly prominent laughter and smiling may be specific of Angelman syndrome. Management of problematic behaviors is primarily based on behavioral approaches, though psychoactive medication (eg, neuroleptics or antidepressants) may be required.
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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.