Conditions / Genetic
developmental and epileptic encephalopathy 27
info · Genetic
A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12.
Signs and symptoms
- Hypsarrhythmia
- Absent speech
- Global developmental delay
- Infantile spasms
- Delayed ability to sit
- Bilateral tonic-clonic seizure
- Axial hypotonia
- Dystonia
- Seizure
- Feeding difficulties
Also known as: DEE27; early infantile epileptic encephalopathy 27