epilepsy, idiopathic generalized, susceptibility to, 14
MONDO:0014734Mondo
Findings
No curated finding names epilepsy, idiopathic generalized, susceptibility to, 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset · Intermediate young adult onset
HPO, annotations 2026-09-02
Features
5 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
- 6 of 9 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 4 of 9 reported patients
- Generalized myoclonic seizureHPOHP:0002123
- 3 of 9 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 0 of 8 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.
- SLC12A5HGNC:13818
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · PanelApp Australia · Autosomal dominant · 2025
- No Known Disease Relationship · Illumina · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
5 names
Resolves to: epilepsy, idiopathic generalized, susceptibility to, 14
- Also called
- EIG14epilepsy, idiopathic generalized, susceptibility to, 14; EIG14epilepsy, idiopathic generalized, susceptibility to, type 14susceptibility to idiopathic generalised epilepsy 14susceptibility to idiopathic generalized epilepsy 14