Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review

Hu, JJ; Gao, XP; Chen, LC; Kan, YL; Du, ZL; Xin, SQ; Ji, WK; Yu, Q; Cao, LL

Cao, LL (通讯作者)，Shandong Univ, Qilu Hosp, Cheeloo Coll Med, Dept Neurol, Jinan, Peoples R China.

FRONTIERS IN GENETICS, 2023; 13 ():

Abstract

Background: The GAP Activity Towards Rags 1 (GATOR1) complex, which includes DEPDC5, NPRL2, and NPRL3, plays a key role in epilepsy. It has been repor......

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