Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 GeneticVariation disease UNIPROT HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. 30351409 2018
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 GeneticVariation disease UNIPROT De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 24747641 2014
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 Biomarker disease GENOMICS_ENGLAND De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 24747641 2014
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 Biomarker disease CTD_human
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 CausalMutation disease CLINVAR
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 GeneticVariation disease CLINVAR
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.500 Biomarker disease CTD_human Increased seizure severity and seizure-related death in mice lacking HCN1 channels. 20384728 2010
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.500 Biomarker disease RGD Activity-dependent heteromerization of the hyperpolarization-activated, cyclic-nucleotide gated (HCN) channels: role of N-linked glycosylation. 17988239 2008
CUI: C0036572
Disease: Seizures
Seizures 		0.440 Biomarker phenotype BEFREE The Hcn1-knockout rats were also more vulnerable to pentylenetetrazol-induced acute convulsions. 30408474 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.440 AlteredExpression phenotype BEFREE Aberrant SUMOylation has been linked to neurological diseases that also display alterations in HCN1 and HCN2 channel expression, such as seizures and Parkinson's disease. 28127275 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.440 GeneticVariation phenotype BEFREE In contrast, no change in HCN1 transcript was noted at an age prior to seizure expression or in a SWD-free model in which the R43Q mutation has been crossed into a seizure-resistant genetic background. 24368169 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.440 Biomarker phenotype CTD_human Therefore, down-regulation of HCN1 associated with human epilepsy and rodent models may be a contributing factor in seizure behavior. 20384728 2010
CUI: C0036572
Disease: Seizures
Seizures 		0.440 Biomarker phenotype BEFREE Two experiments were performed: (1) cortical expression of ion channels Nav1.1, Nav1.6, and HCN1 (previously shown to be dysregulated in WAG/Rij) measured by immunocytochemistry in adult treated rats; and (2) electroencephalogram (EEG) recordings to measure seizure severity at serial time points after stopping the treatment. 18070091 2008
CUI: C0036572
Disease: Seizures
Seizures 		0.440 Biomarker phenotype HPO
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE Deficiency in HCN1 function is associated with sick sinus syndrome in mice and epilepsy in humans. 31292305 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE According to these results and data from literature, alteration of HCN1 channel function seems to play a major role in epilepsy, but also dysfunctional HCN2 and HCN4 channels can predispose to the development of the disease. 30986657 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Electrophysiological analysis in heterologous expression model (CHO cells) and in neurons revealed that L157V is a loss-of-function, dominant negative mutation causing reduced HCN1 contribution to net inward current and responsible for an increased neuronal firing rate and excitability, potentially predisposing to epilepsy. 29936235 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE To delineate HCN1-related disorders and investigate genotype-phenotype correlations further, we assembled a cohort of 33 unpublished patients with novel pathogenic or likely pathogenic variants: 19 probands carrying 14 different de novo mutations and four families with dominantly inherited variants segregating with epilepsy in 14 individuals, but not penetrant in six additional individuals. 30351409 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE Studies in rat models have shown that the Hcn1 gene has a key role in epilepsy, but clinical evidence implicating HCN1 mutations in human epilepsy is lacking. 24747641 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Spike-and-wave discharge mediated reduction in hippocampal HCN1 channel function associates with learning deficits in a genetic mouse model of epilepsy. 24368169 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE Taken together, HCN1 is proposed to play an important role in the molecular linkage between epileptic seizures and Aβ generation, and in the aggravation of sporadic AD. 23034178 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE However, only recently have genetic studies demonstrated sequence variation in HCN1 and HCN2 genes associated with human epilepsy. 21615728 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE By screening families with epilepsy for mutations in Hcn1 and Hcn2 genes, we found a recessive loss-of-function point mutation in the gene coding for the HCN2 channel in a patient with sporadic idiopathic generalized epilepsy. 22131395 2011