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Browse result for Lissencephaly
※ introduction Lissencephaly (, meaning 'smooth brain') is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds (gyri) and grooves (sulci). It is a form of cephalic disorder. Terms such as agyria (no gyri) and pachygyria (broad gyri) are used to describe the appearance of the surface of the brain.
Children with lissencephaly generally have significant developmental delays, but these vary greatly from child to child depending on the degree of brain malformation and seizure control. Life expectancy can be shortened, generally due to respiratory problems.
Reference
Wiki: Lissencephaly
Reference
Wiki: Lissencephaly
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00163 | Q71U36 | 7846 | TUBA1A | Tubulin alpha-1A chain [Cleaved into: Detyrosinated tubulin alpha-1A chain] | Homo sapiens |
| PTMD01910 | Q9NXR1 | 54820 | NDE1 | Nuclear distribution protein nudE homolog 1 | Homo sapiens |
| PTMD05118 | P43034 | 5048 | PAFAH1B1 | Platelet-activating factor acetylhydrolase IB subunit beta | Homo sapiens |
