Conditions / Genetic
developmental and epileptic encephalopathy 120
info · Genetic
A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25.
Signs and symptoms
- Bilateral tonic-clonic seizure
- Delayed CNS myelination
- Dysmetria
- Focal impaired awareness seizure
- Sleep disturbance
- Myoclonic seizure
- Agyria
- Motor delay
- Eyelid myoclonia seizure
- Chronic constipation