Article

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy

2026-03-20

Abstract excerpt

Hyperpolarization-activated cyclic nucleotide-gated 1 channels (HCN1) mediate the I h cationic current and play a central role in regulating neuronal excitability and synaptic integration. HCN1 is predominantly expressed in the neocortex and hippocampus. Pathogenic variants in HCN1 have been increasingly identified in individuals presenting with a broad spectrum of epileptic disorders, ranging from severe develo...

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Literature Corpus work: 9386b8e5-2dd1-59b7-b385-25eefce2f1cb
DOI: 10.64898/2026.03.18.712601

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