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MIRAGE
generalized epilepsy with febrile seizures plus 1
Summary
- Synonym
-
- GEFS+1
- GEFSP1
- generalised epilepsy with febrile seizures plus 1
- generalised epilepsy with febrile seizures plus type 1
- generalized epilepsy with febrile seizures plus type 1
- Definition
- A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11.
- Super Class
- generalized epilepsy with febrile seizures plus
External Links
- Disease Ontology
- DOID:0111302
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07699 | Sodium channel regulatory subunit beta-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0001252 | Hypotonia |
| HP:0007010 | Poor fine motor coordination |
| HP:0002197 | Generalized-onset seizure |
| HP:0000739 | Anxiety |
| HP:0003066 | Limited knee extension |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0007359 | Focal-onset seizure |
| HP:0001763 | Pes planus |
