Conditions / Genetic
developmental and epileptic encephalopathy 4
info · Genetic
A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.
Signs and symptoms
- Profound intellectual disability
- EEG with burst suppression
- Hypotonia
- Cerebral atrophy
- Spastic tetraplegia
- Epileptic spasm
- Hypsarrhythmia
- Generalized myoclonic seizure
- Impaired horizontal smooth pursuit
- Cerebral hypomyelination
Also known as: DEE4; early infantile epileptic encephalopathy 4