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Article

Novel HCN1 Mutations Associated With Epilepsy and Impacts on Neuronal Excitability

30 Jun 2022

Abstract excerpt

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channel plays a critical role in regulating the resting membrane potential and integrating synaptic transmission. Variants of HCN1 have been recognized as causes of epilepsy, and mutant HCN1 channels could act with loss-of-function (LOF), loss- and gain-of-function (LOF and GOF) and gain-of-function (GOF) mechanisms. However, phenotypes and pathogenesis of...

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PMID: 35845605
DOI: 10.3389/fnmol.2022.870182

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