Varaico: Literature-Extracted Genetic Variants

Gene:HCN2
Variant:p.G460D
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HCN2

NM_001194.4:p.G460D

Associated Papers

Altered motor activity and social behavior in zebrafish lacking the Hcn2b ion channel.

Rodríguez-Ortiz R et al.

Neuroscience, 2025

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

Houdayer C et al.

Annals of Neurology, 2025

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Houdayer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.

DiFrancesco JC et al.

Epilepsia, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."