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

• OMIM:308350

Ontology

Human Disease   ( DOID:0080468 )