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Article

Characterization of the phenotype and functional alternations of three HCN1 variants in Chinese epilepsy patients.

Epilepsy research - 1 Mar 2025

Han Ziyao, Xie Lingling, Liu Xiaorui, Yang Jiaxin, Luo Hanyu, Ding Ran, Chen Hengsheng, Cheng Li, Fang Zhixu, Jiang Li

Abstract excerpt

PURPOSE: To evaluate the electrophysiological properties of three HCN1 variant sites found in Chinese epileptic patients and to explore the potential relationship between genotype and phenotype. METHODS: We correlated clinical severity of three patients with HCN1 variants with whole-cell patch-clamp measurements of channel activity, channel expression detected by Western blot, and bioinformatics prediction of the...

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Identifiers

PMID: 39952090
DOI: 10.1016/j.eplepsyres.2025.107521

Genes

HCN1

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