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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
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 8867 | SYNJ1 | synaptojanin 1 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | |
| 9254 | CACNA2D2 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | |
| 23236 | PLCB1 | phospholipase C beta 1 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43426 | Synaptojanin-1 | |
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | |
| Q9NY47 | Voltage-dependent calcium channel subunit alpha-2/delta-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0001266 | Choreoathetosis |
| HP:0001272 | Cerebellar atrophy |
| HP:0001302 | Pachygyria |
| HP:0001332 | Dystonia |
| HP:0001337 | Tremor |
| HP:0001500 | Broad finger |
| HP:0001508 | Failure to thrive |
| HP:0001537 | Umbilical hernia |
| HP:0001629 | Ventricular septal defect |
| 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 |
