Genomic and epigenetic advances in malformations of cortical development / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 344-350, 2023.
Artigo
em Chinês
| WPRIM
| ID: wpr-994839
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Neurology
Ano de publicação:
2023
Tipo de documento:
Artigo
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