Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy

Du, SY; Zeng, S; Song, L; Ma, HY; Chen, R; Luo, JY; Wang, X; Ma, TB; Xu, X; Sun, H; Yi, P; Guo, JF; Huang, YL; Liu, MG; Wang, T; Liao, WP; Zhang, LY; Liu, JY; Tang, BS

Zhang, LY (通讯作者),Huazhong Univ Sci & Technol HUST, Coll Life Sci & Technol, Key Lab Mol Biophys, Minist Educ, Wuhan 430074, Peoples R China.;Tang, BS (通讯作者),Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Peoples R China.;Liu, JY (通讯作者),Chinese Acad Sci, Inst Neurosci, Ctr Excellence Brain Sci & Intelligence Technol, State Key Lab Neurosci, Shanghai 200031, Peoples R China.;Zhang, LY (通讯作者),Hubei Prov Key Lab Oral & Maxillofacial Dev & Rege, Wuhan 430022, Peoples R China.;Tang, BS (通讯作者),Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha 410008, Peoples R China.

SCIENCE CHINA-LIFE SCIENCES, 2023; 66 (9): 2152

Abstract

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......

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