Heterozygous RELN missense variants associated with genetic generalized epilepsy.

Xiaoling Wu,Shaoping Zhong,Yang Cai,Yuling Yang,Yangye Lian,Jing Ding,Xin Wang

Seizure（2023）

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摘要

These results suggest that RELN is potentially associated with GGE. The phenotype of GGE caused by RELN variants is relatively mild, and the pathogenic mechanism may involve a loss-of-function.

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关键词

Genetic generalized epilepsy,Genetic variant,Loss-of-function,RELN

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