Article
Integrated genotype-phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2-related disorders.
Epilepsia - 1 Apr 2026
Xiong Juan, Duan Haolin, Chen Jun, You Xia, He Fang, Zhang Ciliu, Yang Lifen, Chen Chen, Deng Xiaolu, Yang Li, Mao Leilei, Wang Guoli, Chen Shimeng, Zhang Wen, Yin Fei, Xiao Zhen, Peng Jing
Abstract excerpt
OBJECTIVE: Pathogenic variants of KCNQ2 lead to a spectrum of disorders including self-limited familial neonatal-infantile epilepsy (SeL(F)NIE), developmental and epileptic encephalopathies (DEEs), and neurodevelopmental disorders (NDDs) with intellectual disability (ID). This study aimed to delineate the clinical progression and underlying pathogenesis of these disorders. Particularly, we unraveled the role of...
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