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Article

Analysis of epilepsy-associated variants in HCN3 - Functional implications and clinical observations.

Epilepsia open - 1 Dec 2024

Zhao Peiwei, Xiong Hongbo, Kuang Gunagtao, Sun Chen, Zhang Xiankai, Huang Yufeng, Luo Sukun, Zhang Lei, Jiang Jun, He Xuelian

Abstract excerpt

OBJECTIVE: This case study investigates the role of hyperpolarization-activated, cyclic nucleotide-gated (HCN) ion channels, which are integral membrane proteins crucial for regulating neuronal excitability. HCN channels are composed of four subunits (HCN1-4), with HCN1, HCN2, and HCN4 previously linked to epilepsy. However, the role of the HCN3 in epileptogenesis remains underexplored. METHODS: We recruited a...

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Identifiers

PMID: 39361439
DOI: 10.1002/epi4.13049
PMCID: PMC11633725

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