Metadata | |
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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 |