developmental and epileptic encephalopathy 48

A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound hete

A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.

Signs and symptoms

• Seizure
• Reduced eye contact
• Delayed ability to sit
• Axial hypotonia
• Delayed ability to walk
• Global developmental delay
• Microcephaly
• Hyporeflexia
• Generalized hypotonia
• Status epilepticus

Also known as: DEE48; early infantile epileptic encephalopathy 48