developmental and epileptic encephalopathy 28

A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutat

A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Epicanthus
• Seizure
• Hand clenching
• EEG abnormality
• Hypoplasia of the corpus callosum
• Global developmental delay
• Long philtrum
• Cerebral calcification
• Status epilepticus

Also known as: DEE28; early infantile epileptic encephalopathy 28