developmental and epileptic encephalopathy 74

A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_ba

A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34.

Signs and symptoms

• Absent speech
• Severe global developmental delay
• Epileptic encephalopathy
• Hypotonia
• Bilateral tonic-clonic seizure
• Focal impaired awareness seizure
• Nystagmus
• Choreoathetosis
• Atonic seizure
• Typical absence seizure

Also known as: DEE74; early infantile epileptic encephalopathy 74