Shiyue Du, Sheng Zeng, Li Song, Hongying Ma, Rui Chen, Junyu Luo, Xu Wang, Tingbin Ma, Xuan Xu, Hao Sun, Ping Yi, Jifeng Guo, Yaling Huang, Mugen Liu, Tao Wang, Wei-Ping Liao, Luoying Zhang, Jing Yu Liu, Beisha Tang
Focal epilepsy accounts for 60% of all forms of epilepsy, but the pathogenic mechanism is not well understood. In this study, three novel mutations in NPRL3 (nitrogen permease regulator-like 3), c.937_945del, c.1514dupC and 6,706-bp genomic DNA (gDNA) deletion, were identified in three families with focal epilepsy by linkage analysis, whole exome sequencing (WES) and Sanger sequencing. NPRL3 protein is a component of the GATOR1 complex, a major inhibitor of mTOR signaling. These mutations led to truncation of the NPRL3 protein and hampered the binding between NPRL3 and DEPDC5, which is another component of the GATOR1 complex...
April 12, 2023: Science China. Life Sciences