febrile seizures, familial, 8
MONDO:0011891Mondo
Findings
No curated finding names febrile seizures, familial, 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
2 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
- 13 of 14 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 7 of 14 reported patients
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.
- GABRG2HGNC:4087
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
8 names
Resolves to: febrile seizures, familial, 8
- Also called
- childhood absence epilepsy caused by mutation in GABRG2GABRG2 childhood absence epilepsyGABRG2 generalised epilepsy with febrile seizures plusGABRG2 generalized epilepsy with febrile seizures plusgeneralised epilepsy with febrile seizures plus caused by mutation in GABRG2generalised epilepsy with febrile seizures plus, type 3generalized epilepsy with febrile seizures plus caused by mutation in GABRG2generalized epilepsy with febrile seizures plus, type 3