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MIRAGE
generalized epilepsy with febrile seizures plus 2
Summary
- Synonym
-
- GEFS+2
- GEFSP2
- generalised epilepsy with febrile seizures plus 2
- generalised epilepsy with febrile seizures plus type 2
- generalized epilepsy with febrile seizures plus type 2
- Definition
- A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3.
- Super Class
- generalized epilepsy with febrile seizures plus
External Links
- Disease Ontology
- DOID:0111294
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35498 | Sodium channel protein type 1 subunit alpha |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35500 | Sodium channel protein para |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002384 | Focal impaired awareness seizure |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0010819 | Atonic seizure |
| HP:0001252 | Hypotonia |
| HP:0007010 | Poor fine motor coordination |
| HP:0100694 | Tibial torsion |
| HP:0002197 | Generalized-onset seizure |
| HP:0000739 | Anxiety |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0007359 | Focal-onset seizure |
