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

ABSTRACT:

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 Xenopus laevis oocytes and membrane trafficking was investigated in HEK cells by confocal imaging. Structural 3D-analysis of the HCN2 variants was performed.

Results

The phenotypic spectrum included developmental delay/intellectual disability (DD/ID, 17/21), epilepsy (10/21), language disorders (16/21), movement disorders (12/21), and axial hypotonia (10/21). Thi

SUBMITTER: Houdayer C 

PROVIDER: S-EPMC12226820 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature