epilepsy
Findings
No curated finding names epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
Definition from the Mondo Disease Ontology (MONDO:0005027), read 2026-09-29. CC BY 4.0.
Features
1 feature
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, hp/releases/2026-09-01.
- SeizureMondoHP:0001250
Genes
43 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.
- GABRA1HGNC:4075
- Definitive · ClinGen · Autosomal dominant · 2024
- GABRG2HGNC:4087
- Definitive · ClinGen · Autosomal dominant · 2020
- BSNHGNC:1117
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal dominant · 2023
- Limited · G2P · Autosomal recessive · 2023
- KCNA1HGNC:6218
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (13)
Other names
1 name
Resolves to: epilepsy
- Also called
- seizure disorder