OBO ID: DOID:0080468
Term Name: developmental and epileptic encephalopathy 1 Search Ontology:
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 )
OTHER developmental and epileptic encephalopathy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARX Developmental and epileptic encephalopathy 1 308350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None