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13 Possible Causes for Mutation in the HCN1 Gene

  • Early Infantile Epileptic Encephalopathy 24

    Mutations in the HCN1 gene can impact cellular function and contribute to a variety of rare conditions, including early infantile epileptic encephalopathy and others.[pairnomix.com] Additional Disease Information for HCN1 No data available for Genatlas for HCN1 Gene Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels[genecards.org] Database) HCN1 DoCM (Curated mutations) HCN1 (select the gene name) CIViC (Clinical Interpretations of Variants in Cancer) HCN1 (select a term) intoGen HCN1 Cancer3D HCN1[atlasgeneticsoncology.org]

  • Idiopathic Generalized Epilepsy

    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[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy

    […] in another ion channel gene, namely HCN1.[innovations-report.com] Differences from the Dravet syndrome At the beginning the seizures of children with mutations of the HCN1 gene are hardly distinguishable from the Dravet syndrome, but at[innovations-report.com] Mutations discovered in the HCN1 ion channel In the search for new disease genes as the cause of early infantile epileptic encephalopathies, scientists from Paris and Würzburg[innovations-report.com]

  • Dravet Syndrome

    Mutations in GABRG2 (5q34), SCN1B (19q13.12), SCN2A (2q24.3), CHD2 (15q26) and HCN1 (5p12) have been reported in a few patients with DS.[orpha.net] Recently, Luciarello et al. [ 3 ] and Sajan et al. [ 4 ] reported mutations in a number of genes associated with neurodevelopmental disorders.[content.iospress.com] In about 10% of cases the etiology is unknown but other genes are likely implicated.[orpha.net]

  • Early Infantile Epileptic Encephalopathy 28

    ), caused by mutation in the HCN1 gene (602780); EIEE25 (615905), caused by mutation in the SLC13A5 gene (608305); EIEE26 (616056), caused by mutation in the KCNB1 gene (600397[ncbi.nlm.nih.gov] […] in the NECAP1 gene (611623); EIEE22 (300896), caused by mutation in the SLC35A2 gene (314375); EIEE23 (615859), caused by mutation in the DOCK7 gene (615730); EIEE24 (615871[ncbi.nlm.nih.gov] […] gene (615463); EIEE19 (615744), caused by mutation in the GABRA1 gene (137160); EIEE20 (300868), caused by mutation in the PIGA gene (311770); EIEE21 (615833), caused by mutation[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy 26

    ({615871}), caused by mutation in the HCN1 gene ({602780}); EIEE25 ({615905}), caused by mutation in the SLC13A5 gene ({608305}); EIEE26 ({616056}), caused by mutation in[bio2rdf.org] […] in the NECAP1 gene ({611623}); EIEE22 ({300896}), caused by mutation in the SLC35A2 gene ({314375}); EIEE23 ({615859}), caused by mutation in the DOCK7 gene ({615730}); EIEE24[bio2rdf.org] 615463}); EIEE19 ({615744}), caused by mutation in the GABRA1 gene ({137160}); EIEE20 ({300868}), caused by mutation in the PIGA gene ({311770}); EIEE21 ({615833}), caused by mutation[bio2rdf.org]

  • Early Infantile Epileptic Encephalopathy 14

    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.[f1000.com]

  • Early Infantile Epileptic Encephalopathy 13

    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.[f1000.com]

  • Early Infantile Epileptic Encephalopathy 18

    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.[f1000.com]

  • Autosomal Recessive Non-Syndromic Intellectual Disability

    De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat. Genet. 46, 640–645 (2014). 90. Noebels, J. Pathway-driven discovery of epilepsy genes.[nature.com]

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