Conditions / Genetic
developmental and epileptic encephalopathy 9
info · Genetic
A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.
Signs and symptoms
- Focal hemiclonic seizure
- Bilateral tonic-clonic seizure with generalized onset
- Global developmental delay
- Intellectual disability
- Bilateral tonic-clonic seizure
- Status epilepticus
- Generalized myoclonic seizure
- Developmental regression
- Generalized non-motor (absence) seizure
- Psychosis
Also known as: DEE9; EFMR; EIEE9; Juberg Hellman syndrome; early infantile epileptic encephalopathy 9