{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Houdayer C"],"funding":["NHGRI NIH HHS"],"pagination":["573-589"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12226820"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["98(3)"],"pubmed_abstract":["<h4>Objective</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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"],"journal":["Annals of neurology"],"pubmed_title":["HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models."],"pmcid":["PMC12226820"],"funding_grant_id":["R01 HG009141","U01 HG011755","UM1 HG008900"],"pubmed_authors":["Keren B","Saadi NW","Verbeek NE","Howell KB","Richards K","Bourreau J","Maroofian R","Wang M","Dad'ova E","Olofsson K","Roscioli T","Procaccio V","Smol T","Reid CA","Dasouki M","Houlden H","VanNoy GE","Colin E","Legros C","Van Bogaert P","Henrion D","Kothur K","Houdayer C","Bayat A","Rupin M","Mckenzie CE","Van Gassen KL","Elserafy N","Poss AF","Schnur RE","Riquet A","Forster IC","Shashi V","Jamra RA","Spence JE","Ziegler A","Bonneau D","Sullivan JA","Charles P","Buckley M","Lenaers G","Chabbert M","Legendre C","Snell P","Seaver LH","Pais L","O'Donnell-Luria A","Alkuraya FS","Dauriat B","Moller RS","Syrbe S","Phillips AM","Simons C"],"additional_accession":[]},"is_claimable":false,"name":"HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.","description":"<h4>Objective</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-05-29T19:35:23.194Z","creation":"2026-04-08T05:48:10.844Z"},"accession":"S-EPMC12226820","cross_references":{"pubmed":["40468825"],"doi":["10.1002/ana.27277"]}}