| Metadata | |
|---|---|
| ID | DOID:0080468 |
| Name | developmental and 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. https://pubmed.ncbi.nlm.nih.gov/17668384/, https://www.ncbi.nlm.nih.gov/pubmed/11889467 |
| Xrefs | |
| Synonyms |
DEE1 [EXACT] early infantile epileptic encephalopathy 1 [EXACT] X-linked infantile spasm syndrome 1 [EXACT] |
| Parent Relationships |