Article
Delayed excitability recovery and downregulation of neurodevelopmental pathways contribute to phenotypic differences in KCNQ2-related disorders.
Epilepsia - 1 Jan 2026
Wang Yingying, Liu Min, Hua Ning, You Qing, Wang Shan, Zhang Chudi, Feng Jianhua, Jiang Pingping, Yang Wei, Miao Pu
Abstract excerpt
OBJECTIVE: Pathogenic variants in the KCNQ2 gene cause a spectrum of neonatal onset epilepsy, from self-limited familial neonatal epilepsy (SeLNE; mild end) to developmental and epileptic encephalopathy (DEE; severe end). The associations and differences in the molecular mechanisms between the developmental outcomes of different KCNQ2 variants (SeLNE vs. DEE) remain unclear. METHODS: Using brain slice patch-clamp...
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