generalized epilepsy with febrile seizures plus, type 9
Findings
No curated finding names generalized epilepsy with febrile seizures plus, type 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.
Definition from the Mondo Disease Ontology (MONDO:0014517), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 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.
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 20 of 27 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 10 of 29 reported patients
- Tonic seizureHPOHP:0032792
- 8 of 29 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 5 of 29 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 4 of 29 reported patients
- Atonic seizureHPOHP:0010819
- 3 of 29 reported patients
- Delayed speech and language development
Genes
1 gene
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.
- STX1BHGNC:18539
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2015
Where it sits
Other names
4 names
Resolves to: generalized epilepsy with febrile seizures plus, type 9
- Also called
- generalised epilepsy with febrile seizures plus caused by mutation in STX1Bgeneralized epilepsy with febrile seizures plus caused by mutation in STX1BSTX1B generalised epilepsy with febrile seizures plusSTX1B generalized epilepsy with febrile seizures plus