"Megalencephaly" 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 congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).
Descriptor ID |
D058627
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MeSH Number(s) |
C05.660.207.536 C10.500.507.400.249 C16.131.621.207.532 C16.131.666.507.400.249
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Concept/Terms |
Megalencephaly- Megalencephaly
- Megalencephalies
- Megalocephaly
- Megalocephalies
- Macrocephaly
- Macrocephalies
- Megacephaly
- Megacephalies
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Below are MeSH descriptors whose meaning is more general than "Megalencephaly".
Below are MeSH descriptors whose meaning is more specific than "Megalencephaly".
This graph shows the total number of publications written about "Megalencephaly" by people in this website by year, and whether "Megalencephaly" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2014 | 1 | 0 | 1 |
2016 | 1 | 0 | 1 |
2018 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Megalencephaly" by people in Profiles.
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De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. Brain. 2019 11 01; 142(11):3351-3359.
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Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly. Seizure. 2019 Mar; 66:81-85.
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De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. Eur J Hum Genet. 2016 12; 24(12):1739-1745.
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May; 46(5):510-515.