Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.I380N
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HCN1

NM_021072.4:p.I380N

Associated Papers

Org 34167 rescues voltage dependence of mutant channels and normalizes hyperexcitability in HCN1 epilepsy.

Bleakley LE et al.

Epilepsia, 2025

HCN1 epilepsy: From genetics and mechanisms to precision therapies.

Bleakley LE et al.

Journal of Neurochemistry, 2024

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Scheffer IE et al.

Developmental Medicine and Child Neurology, 2023

Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy.

McKenzie CE et al.

Brain Communications, 2023

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