developmental and epileptic encephalopathy 71

A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound hete

A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2.

Signs and symptoms

• Seizure
• Hypotonia
• EEG with burst suppression
• Epileptic encephalopathy
• Respiratory insufficiency
• Respiratory failure
• Simplified gyral pattern
• Gliosis
• CNS demyelination
• Cheyne-Stokes respiration

Also known as: DEE71; early infantile epileptic encephalopathy 71; glutaminase deficiency with neonatal epileptic encephalopathy