generalized epilepsy with febrile seizures plus
Findings
No curated finding names generalized epilepsy with febrile seizures plus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).
Definition from the Mondo Disease Ontology (MONDO:0018214), read 2026-09-29. CC BY 4.0.
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Generalized-onset seizureHPOHP:0002197
- Very frequent (80% to 99% of cases)
- Febrile seizure (within the age range of 3 months to 6 years)HPO · MondoHP:0002373
- Frequent (30% to 79% of cases)
- Generalized non-motor (absence) seizureHPOHP:0002121
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Atonic seizureHPOHP:0010819
- Occasional (5% to 29% of cases)
- Atypical absence status epilepticusHPOHP:0011151
- Occasional (5% to 29% of cases)
- Bilateral tonic-clonic seizureHPO · MondoHP:0002069
- Occasional (5% to 29% of cases)
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- Cortical dysplasiaHPOHP:0002539
- Occasional (5% to 29% of cases)
- Developmental regressionHPOHP:0002376
- Occasional (5% to 29% of cases)
- EEG with spike-wave complexesHPOHP:0010850
- Occasional (5% to 29% of cases)
- Generalized cerebral atrophy/hypoplasiaHPOHP:0007058
- Occasional (5% to 29% of cases)
Show the remaining 16
- Generalized myoclonic seizureHPOHP:0002123
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
- IncoordinationHPOHP:0002311
- Occasional (5% to 29% of cases)
- Poor fine motor coordinationHPOHP:0007010
- Occasional (5% to 29% of cases)
- AnxietyHPOHP:0000739
- Very rare (1% to 4% of cases)
- Autistic behaviorHPOHP:0000729
- Very rare (1% to 4% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HCN1HGNC:4845
- Definitive · ClinGen · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- SCN1AHGNC:10585
- Definitive · ClinGen · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- SCN1BHGNC:10586
- Definitive · ClinGen · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- STX1BHGNC:18539
- Definitive · ClinGen · Autosomal dominant · 2023
- · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (10)
- febrile seizures, familial, 8
- generalized epilepsy with febrile seizures plus, type 1
- generalized epilepsy with febrile seizures plus, type 10
- generalized epilepsy with febrile seizures plus, type 12
- generalized epilepsy with febrile seizures plus, type 2
- generalized epilepsy with febrile seizures plus, type 4
- generalized epilepsy with febrile seizures plus, type 6
- generalized epilepsy with febrile seizures plus, type 7
- generalized epilepsy with febrile seizures plus, type 8
- generalized epilepsy with febrile seizures plus, type 9
Other names
5 names
Resolves to: generalized epilepsy with febrile seizures plus
- Also called
- epilepsy, generalized, with febrile seizures plusGEFS+generalised epilepsy with febrile seizures-plusgenetic epilepsy with febrile seizures plusgenetic epilepsy with febrile seizures-plus