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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:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0000729 | Autistic behavior |
| HP:0002376 | Developmental regression |
| HP:0002067 | Bradykinesia |
| HP:0004684 | Talipes valgus |
| HP:0001251 | Ataxia |
| HP:0002133 | Status epilepticus |
| HP:0007058 | Generalized cerebral atrophy/hypoplasia |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0002539 | Cortical dysplasia |
