Conditions / Genetic
developmental and epileptic encephalopathy 59
info · Genetic
A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.
Signs and symptoms
- Absent speech
- Inability to walk
- Infantile spasms
- Epileptic encephalopathy
- Intellectual disability
- Poor head control
- Bilateral tonic-clonic seizure
- Hypsarrhythmia
- Scoliosis
- Focal clonic seizure
Also known as: DEE59; early infantile epileptic encephalopathy 59