Term Name: | developmental and epileptic encephalopathy 1 |
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Synonyms: | DEE1, early infantile epileptic encephalopathy 1, X-linked infantile spasm syndrome 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. |
Ontology: | Human Disease [DOID:0080468] ( DOID:0080468 ) |