Genomic and epigenetic advances in malformations of cortical development

VernacularTitle:皮质发育畸形的分型及遗传学最新研究进展
Author: Lin′ai GUO ¹ ; Yueshan PIAO
Author Information

1. 首都医科大学宣武医院病理科，北京100053
Keywords: Malformations of cortical development; Methylation; Genetics; Mammalian target of rapamycin
From: Chinese Journal of Neurology 2023;56(3):344-350
CountryChina
Language:Chinese
Abstract: Malformations of cortical development (MCD) describe malformation lesions which are characterized by abnormal cortical structure or presence of heterotopic grey matter, sometimes associated with abnormal brain size. Recent progress in understanding the genetics and epigenetics in brain malformations has been driven by extraordinary advances in DNA sequencing technologies and DNA methylation profiling. For example, somatic mosaic mutations that activate mammalian target of rapamycin signaling in cortical progenitor cells are now recognized as the main cause of some types of MCD. In this review, the classification and genetic etiologies of MCD, especially focal cortical dysplasia, are summarized.