Conditions / Nervous system
developmental and epileptic encephalopathy 94
info · Nervous system
A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26.
Signs and symptoms
- Developmental regression
- Generalized myoclonic seizure
- Global developmental delay
- Intellectual disability
- Bilateral tonic-clonic seizure
- Multifocal epileptiform discharges
- EEG with generalized spikes
- EEG with generalized polyspikes
- Atonic seizure
- Autistic behavior