"Lissencephaly" 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 smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
| Descriptor ID |
D054082
|
| MeSH Number(s) |
C10.500.507.450.499 C16.131.666.507.450.499
|
| Concept/Terms |
Pachygyria- Pachygyria
- Pachygyrias
- Broad Gyri of Cerebrum
- Large Gyri of Cerebrum
- Macrogyria
- Macrogyrias
|
Below are MeSH descriptors whose meaning is more general than "Lissencephaly".
Below are MeSH descriptors whose meaning is more specific than "Lissencephaly".
This graph shows the total number of publications written about "Lissencephaly" by people in this website by year, and whether "Lissencephaly" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2007 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Lissencephaly" by people in Profiles.
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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genet Med. 2023 07; 25(7):100835.
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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 11 03; 109(11):2068-2079.
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Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015.
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The Pafah1b complex interacts with the reelin receptor VLDLR. PLoS One. 2007 Feb 28; 2(2):e252.