Conditions / Genetic
developmental and epileptic encephalopathy 2
info · Genetic
A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.
Signs and symptoms
- EEG with generalized slow activity
- Global developmental delay
- Scoliosis
- Generalized myoclonic seizure
- Seizure
- Infantile spasms
- Motor stereotypy
- Constipation
- Generalized-onset seizure
- Hyperventilation
Also known as: DEE2; EIEE2; X-linked infantile spasm syndrome 2; early infantile epileptic encephalopathy 2