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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:0001763 | Pes planus |
| HP:0011151 | Atypical absence status epilepticus |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0003066 | Limited knee extension |
| HP:0000729 | Autistic behavior |
| HP:0002311 | Incoordination |
| HP:0007058 | Generalized cerebral atrophy/hypoplasia |
| HP:0001337 | Tremor |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0002121 | Generalized non-motor (absence) seizure |
