Conditions / Genetic
developmental and epileptic encephalopathy 65
info · Genetic
A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in hetero
A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.
Signs and symptoms
- Absent speech
- Seizure
- Microcephaly
- Generalized hypotonia
- EEG with burst suppression
- Highly arched eyebrow
- Cerebral atrophy
- Hypsarrhythmia
- Cerebellar atrophy
- Epileptic encephalopathy
Also known as: DEE65; early infantile epileptic encephalopathy 65