Article
Somatic variants in new candidate genes identified in focal cortical dysplasia type II.
Epilepsia - 1 Apr 2020
Zhang Zhongbin, Gao Kai, Liu Qingzhu, Zhou Jiapeng, Li Xiyuan, Lang Na, Liu Ming, Wang Tianshuang, Zhang Jie, Wang Hui, Dong Ying, Ji Taoyun, Wang Shuang, Liu Xiaoyan, Jiang Yuwu, Cai Lixin, Wu Ye
Abstract excerpt
OBJECTIVE: Focal cortical dysplasia type II (FCDII) is a malformation of cortex development commonly found in children with drug-resistant epilepsy. FCDII has been associated with somatic mutations in mammalian target of rapamycin (mTOR)-related pathway genes and an upregulation of mTOR. Somatic mutations were found in 10%-63% of FCDII samples; the frequency of the mutant allele was 0.93%-33.5%. This study aimed...
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