Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.M153I
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HCN1

NM_021072.4:p.M153I

Associated Papers

Roles of funny HCN.

Kodirov SA

Comparative Biochemistry and Physiology. Toxicology & Pharmacology : Cbp, 2025

HCN1 epilepsy: From genetics and mechanisms to precision therapies.

Bleakley LE et al.

Journal of Neurochemistry, 2024

Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.

Chi CS et al.

Archives of Disease in Childhood, 2024

38789118 (PubMed )
Supplement: archdischild-2024-326985supp002.pdf

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.

Kobayashi Y et al.

Human Genome Variation, 2023

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

McKenzie CE et al.

Brain Communications, 2023

Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.

Jiang Y et al.

Nature Communications, 2022

36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1

Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients.

Balestrini S et al.

Drugs - Real World Outcomes, 2022

35680739 (PubMed )
Supplement: 40801_2022_305_MOESM1_ESM.pdf

Seizures, behavioral deficits, and adverse drug responses in two new genetic mouse models of HCN1 epileptic encephalopathy.

Merseburg A et al.

Elife, 2022

The Contribution of HCN Channelopathies in Different Epileptic Syndromes, Mechanisms, Modulators, and Potential Treatment Targets: A Systematic Review.

Kessi M et al.

Frontiers in Molecular Neuroscience, 2022

Novel HCN1 Mutations Associated With Epilepsy and Impacts on Neuronal Excitability.

Xie C et al.

Frontiers in Molecular Neuroscience, 2022

Cardiac and neuronal HCN channelopathies.

Rivolta I et al.

Pflugers Archiv : European Journal of Physiology, 2020

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C et al.

Brain : a Journal of Neurology, 2018

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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."