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MIRAGE
generalized epilepsy with febrile seizures plus 10
Summary
- Synonym
-
- GEFS+10
- GEFSP10
- generalised epilepsy with febrile seizures plus 10
- generalised epilepsy with febrile seizures plus type 10
- generalized epilepsy with febrile seizures plus type 10
- Definition
- A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12.
- Super Class
- generalized epilepsy with febrile seizures plus
External Links
- Disease Ontology
- DOID:0111296
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60741 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002311 | Incoordination |
| HP:0000739 | Anxiety |
| HP:0002067 | Bradykinesia |
| HP:0001252 | Hypotonia |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0002133 | Status epilepticus |
| HP:0011151 | Atypical absence status epilepticus |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0003066 | Limited knee extension |
| HP:0100543 | Cognitive impairment |
