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generalized epilepsy with febrile seizures plus, type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

generalized epilepsy with febrile seizures plus, type 1

MONDO:0011416

Also known as:GEFSP1Gefs+, type 1

Overview

A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11.

GeneticsAutosomal dominant · SCN1B (chr 19)

ResearchLimited published research (1 article)

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: Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) seizure, and Atonic seizure.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) seizure

Genetic Landscape

SCN1B function has not been fully characterized.

Generalized epilepsy with febrile seizures plus, type 1 is associated with mutations in the SCN1B gene on chromosome 19.

Diagnosis

Genetic testing for SCN1B is available. Testing is considered confirmatory for diagnosis.

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 1.

1 publication has been identified in PubMed for generalized epilepsy with febrile seizures plus, type 1. Research spans Review / Meta-Analysis (100%).

Recent Publications

De Sainte Agathe JM (2025). [PMID: 39729883](https://pubmed.ncbi.nlm.nih.gov/39729883/). *EBioMedicine*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604233

GARD

Genetic and Rare Diseases Info Center

GARD:18659

Questions for Your Care Team

→Should I pursue genetic testing for SCN1B, 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 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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