Article
Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy.
Science China. Life sciences - 1 Sept 2023
Du Shiyue, Zeng Sheng, Song Li, Ma Hongying, Chen Rui, Luo Junyu, Wang Xu, Ma Tingbin, Xu Xuan, Sun Hao, Yi Ping, Guo Jifeng, Huang Yaling, Liu Mugen, Wang Tao, Liao Wei-Ping, Zhang Luoying, Liu Jing Yu, Tang Beisha
Abstract excerpt
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...
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