Lin-Lin Wang, Ping-Shan Pan, Hui Ma, Chun He, Zai-Long Qin, Wei He, Jing Huang, Shu-Yin Tan, Da-Hua Meng, Hong-Wei Wei, Ai-Hua Yin
BACKGROUND: Malformations of cortical development (MCD) are a group of congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play a key role in the etiology of MCD. Currently, there is no curative treatment for MCD. Phenotypes such as epilepsy and cerebral palsy cannot be observed in the fetus. Therefore, the diagnosis of MCD is typically based on fetal brain magnetic resonance imaging (MRI), ultrasound, or genetic testing...
April 2024: Molecular Genetics & Genomic Medicine