"Aicardi 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 rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.
| Descriptor ID |
D058540
|
| MeSH Number(s) |
C10.500.034.687 C11.270.019 C16.131.162 C16.131.666.034.687 C16.320.290.019 C16.320.322.030
|
| Concept/Terms |
Aicardi Syndrome- Aicardi Syndrome
- Syndrome, Aicardi
- Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality
- Chorioretinal Anomalies with Acc
- Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities
- Callosal Agenesis and Ocular Abnormalities
- Aicardi's Syndrome
- Syndrome, Aicardi's
- Agenesis of Corpus Callosum with Chorioretinal Abnormality
|
Below are MeSH descriptors whose meaning is more general than "Aicardi Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Aicardi Syndrome".
This graph shows the total number of publications written about "Aicardi Syndrome" by people in this website by year, and whether "Aicardi Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2012 | 3 | 0 | 3 |
| 2013 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2018 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Aicardi Syndrome" by people in Profiles.
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Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series. Prenat Diagn. 2022 04; 42(4):484-494.
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Agenesis of the corpus callosum and hepatoblastoma. Am J Med Genet A. 2020 01; 182(1):224-228.
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Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination. Am J Med Genet C Semin Med Genet. 2018 12; 178(4):423-431.
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Open-label use of highly purified CBD (Epidiolex?) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes. Epilepsy Behav. 2018 09; 86:131-137.
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Exploring genome-wide DNA methylation patterns in Aicardi syndrome. Epigenomics. 2017 11; 9(11):1373-1386.
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A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome. Invest Ophthalmol Vis Sci. 2015 Jun; 56(6):3896-904.
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Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome. Sci Transl Med. 2014 Jan 22; 6(220):220ra12.
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Serial fetal MRI for the diagnosis of Aicardi syndrome. Neuroradiol J. 2013 Aug; 26(4):380-4.
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Ophthalmologic findings in Aicardi syndrome. J AAPOS. 2012 Jun; 16(3):238-41.
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Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms. Curr Opin Neurobiol. 2012 Oct; 22(5):859-65.