developmental and epileptic encephalopathy 44

A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous o

A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.

Signs and symptoms

• Dystonia
• Axial hypotonia
• Global developmental delay
• Epileptic encephalopathy
• Athetosis
• Seizure
• Absent speech
• Spasticity
• Severe intellectual disability
• Secondary microcephaly

Also known as: DEE44; early infantile epileptic encephalopathy 44