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Article

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

5 Jun 2025

Abstract excerpt

OBJECTIVE: We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization-activated cyclic nucleotide (HCN) gated channel 2. METHODS: GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants. In vitro functional studies were performed by electrophysiology with...

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PMID: 40468825
DOI: 10.1002/ana.27277

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