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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 )
Relationships
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Genes Involved
Zebrafish Models