"Angelman Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
| Descriptor ID |
D017204
|
| MeSH Number(s) |
C10.228.662.075 C16.131.077.095 C16.131.260.040 C16.320.180.040
|
| Concept/Terms |
Angelman Syndrome- Angelman Syndrome
- Syndrome, Angelman
- Puppet Children
- Children, Puppet
- Happy Puppet Syndrome
- Syndrome, Happy Puppet
|
Below are MeSH descriptors whose meaning is more general than "Angelman Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Angelman Syndrome".
This graph shows the total number of publications written about "Angelman Syndrome" by people in this website by year, and whether "Angelman Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 3 | 0 | 3 |
| 1998 | 4 | 0 | 4 |
| 1999 | 1 | 0 | 1 |
| 2001 | 0 | 1 | 1 |
| 2003 | 0 | 1 | 1 |
| 2004 | 2 | 0 | 2 |
| 2005 | 2 | 0 | 2 |
| 2007 | 1 | 0 | 1 |
| 2008 | 0 | 1 | 1 |
| 2010 | 4 | 0 | 4 |
| 2011 | 4 | 0 | 4 |
| 2012 | 0 | 1 | 1 |
| 2013 | 2 | 1 | 3 |
| 2014 | 1 | 0 | 1 |
| 2016 | 0 | 1 | 1 |
| 2017 | 2 | 1 | 3 |
| 2018 | 0 | 1 | 1 |
| 2019 | 1 | 1 | 2 |
| 2020 | 1 | 0 | 1 |
| 2021 | 3 | 0 | 3 |
| 2022 | 3 | 0 | 3 |
| 2023 | 2 | 0 | 2 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Angelman Syndrome" by people in Profiles.
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Developmental milestones and daily living skills in individuals with Angelman syndrome. J Neurodev Disord. 2024 Jun 15; 16(1):32.
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Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS). J Neurodev Disord. 2023 07 26; 15(1):22.
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Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome. Elife. 2023 01 03; 12.
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Biallelic variants in HECT E3 paralogs, HECTD4 and?UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Genet Med. 2023 02; 25(2):100323.
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A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genomic Med. 2022 03; 10(3):e1843.
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Anxiety in Angelman Syndrome. Am J Intellect Dev Disabil. 2022 01 01; 127(1):1-10.
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Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes. Pediatr Neurol. 2021 10; 123:30-37.
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Early Developmental EEG and Seizure Phenotypes in a Full Gene Deletion of Ubiquitin Protein Ligase E3A Rat Model of Angelman Syndrome. eNeuro. 2021 Mar-Apr; 8(2).
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Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III. J Autism Dev Disord. 2023 Feb; 53(2):720-737.
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Quantitative EEG Analysis in Angelman Syndrome: Candidate Method for Assessing Therapeutics. Clin EEG Neurosci. 2023 Mar; 54(2):203-212.