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Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.
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ID: paper-41890092
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Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.
["Castelli R", "Marini C", "Porro A", "Castellini A", "Fontana G", "Saponaro A", "Cavalleri G", "Rizzi S", "Fusco C", "Parida A"]
Abstract
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 developmental and epileptic encephalopathy (DEE) to milder epilepsies. Here, we used patch-...
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