developmental and epileptic encephalopathy 78

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromoso

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12.

Signs and symptoms

• Hypothermia
• Seizure
• Global developmental delay
• Chorea
• Severe global developmental delay
• Reduced eye contact
• Neonatal hypotonia
• Microcephaly
• Status epilepticus
• Hypotonia

Also known as: DEE78; early infantile epileptic encephalopathy 78