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MIRAGE
developmental and epileptic encephalopathy 98
Summary
- Synonym
-
- DEE98
- early infantile epileptic encephalopathy 98
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0070384
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50993 | Sodium/potassium-transporting ATPase subunit alpha-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011443 | Abnormality of coordination |
| HP:0002376 | Developmental regression |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0004305 | Involuntary movements |
| HP:0100710 | Impulsivity |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0002509 | Limb hypertonia |
| HP:0012444 | Brain atrophy |
