Visualize Submit Comment
Metadata
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

OMIM:308350

Synonyms

DEE1 [EXACT]

early infantile epileptic encephalopathy 1 [EXACT]

X-linked infantile spasm syndrome 1 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a X-linked recessive disease

Add an item to the term tracker