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generalized epilepsy with febrile seizures plus, type 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

generalized epilepsy with febrile seizures plus, type 10

MONDO:0032777

Also known as:GEFSP10Gefs+, Type 10

Overview

GeneticsAutosomal dominant · HCN1 (chr 5)

OnsetINFANTILE

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Seizure; and common findings: Intellectual disability. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Delayed speech and language development, Seizure, Febrile seizure (within the age range of 3 months to 6 years)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HCN1 encodes hyperpolarization activated cyclic nucleotide gated potassium channel 1 (890 aa). Hyperpolarization-activated ion channel that are permeable to sodium and potassium ions. Displays lower selectivity for K(+) over Na(+) ions. Highest expression in Brain Frontal Cortex BA9 (9.1 TPM) and Brain Cerebellar Hemisphere (5.7 TPM).

Generalized epilepsy with febrile seizures plus, type 10 is associated with mutations in the HCN1 gene on chromosome 5.

The HCN1 protein participates in HCN channel Homomer of subunit HCN1 and HCNs:cAMP bind SNIs pathways.

HCN1 is classified as a druggable target (Cell Surface, Druggable Genome, and Ion Channel categories) with score 7.5.

Diagnosis

Genetic testing for HCN1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for generalized epilepsy with febrile seizures plus, type 10.

3 publications have been identified in PubMed for generalized epilepsy with febrile seizures plus, type 10. Kisho has analyzed 2 by research type. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Akiba T (2025). [PMID: 40811894](https://pubmed.ncbi.nlm.nih.gov/40811894/). *Seizure*. [Case Report / Case Series]
Cohen JD (2025). [PMID: 39661496](https://pubmed.ncbi.nlm.nih.gov/39661496/). *Toxicol Sci*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618482

GARD

Genetic and Rare Diseases Info Center

GARD:18671

Questions for Your Care Team

→Should I pursue genetic testing for HCN1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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generalized epilepsy with febrile seizures plus, type 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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