Conditions / Genetic
developmental and epileptic encephalopathy 1
info · Genetic
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.
Signs and symptoms
- Hypertonia
- Poor head control
- Hypsarrhythmia
- Delayed CNS myelination
- Global brain atrophy
- Infantile spasms
- Reduced eye contact
- Intellectual disability
- Microcephaly
- Global developmental delay
Also known as: DEE1; X-linked infantile spasm syndrome 1; early infantile epileptic encephalopathy 1