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MIRAGE
developmental and epileptic encephalopathy 1
Summary
- Synonym
-
- DEE1
- X-linked infantile spasm syndrome 1
- early infantile epileptic encephalopathy 1
- Definition
- A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21.
- Super Class
- X-linked recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080468
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96QS3 | Homeobox protein ARX |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011190 | Uni- and bilateral multifocal epileptiform discharges |
| HP:0012448 | Delayed myelination |
| HP:0012554 | Absent thumbnail |
| HP:0100660 | Dyskinesia |
| HP:0100716 | Self-injurious behavior |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q |
| 23236 | PLCB1 | phospholipase C beta 1 |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A |
| 6487 | ST3GAL3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
