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Human Disease
developmental and epileptic encephalopathy 1
- Term ID
- DOID:0080468
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0080468 )
- is a type of
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