"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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 2023 | 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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An adapted clinical global Impression of improvement for use in Angelman syndrome: Validation analyses utilizing data from the NEPTUNE study. Eur J Paediatr Neurol. 2023 Nov; 47:35-40.
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Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study. Eur J Paediatr Neurol. 2023 Nov; 47:6-12.
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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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Health-related quality of life and medication use among individuals with Angelman syndrome. Qual Life Res. 2023 Jul; 32(7):2059-2067.
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The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome. Neurology. 2021 02 16; 96(7):e1024-e1035.
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Seizure and EEG patterns in Angelman's syndrome. J Child Neurol. 1995 Nov; 10(6):467-71.