epilepsy, idiopathic generalized, susceptibility to, 8
Findings
No curated finding names epilepsy, idiopathic generalized, susceptibility to, 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any generalized epilepsy in which the cause of the disease is a mutation in the CASR gene.
Definition from the Mondo Disease Ontology (MONDO:0013032), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
6 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.
- SeizureHPOHP:0001250
- 9 of 9 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 4 of 9 reported patients
- MyoclonusHPOHP:0001336
- 4 of 9 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 9 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 2 of 9 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 9 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.
- CASRHGNC:1514
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Refuted Evidence · Natera · Unknown · 2026
Where it sits
- A kind of
Other names
6 names
Resolves to: epilepsy, idiopathic generalized, susceptibility to, 8
- Also called
- CASR generalised epilepsyCASR generalized epilepsyepilepsy idiopathic generalized, susceptibility to, 8epilepsy, idiopathic generalized, susceptibility to, type 8generalised epilepsy caused by mutation in CASRgeneralized epilepsy caused by mutation in CASR