Conditions / Genetic
developmental and epileptic encephalopathy 69
info · Genetic
A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3.
Signs and symptoms
- Axial hypotonia
- Absent speech
- Inability to walk
- Spastic tetraplegia
- Hyperkinetic movements
- Hypsarrhythmia
- EEG abnormality
- Cerebral cortical atrophy
- Corpus callosum atrophy
- Nystagmus
Also known as: DEE69; early infantile epileptic encephalopathy 69