Conditions / Genetic
developmental and epileptic encephalopathy 54
info · Genetic
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.
Signs and symptoms
- Bilateral tonic-clonic seizure
- EEG abnormality
- Developmental regression
- Atonic seizure
- Global developmental delay
- Status epilepticus without prominent motor symptoms
- Atypical absence seizure
- Tonic seizure
- Intellectual disability
- Myoclonus
Also known as: DEE54; early infantile epileptic encephalopathy 54