developmental and epileptic encephalopathy 83

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15.

Signs and symptoms

• Seizure
• Axial hypotonia
• Absent speech
• Severe global developmental delay
• Persistent head lag
• Reduced eye contact
• Feeding difficulties in infancy
• Cerebral cortical atrophy
• Microcephaly
• Hyperreflexia

Also known as: DEE83; early infantile epileptic encephalopathy 83