developmental and epileptic encephalopathy 3

A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p1

A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.

Signs and symptoms

• Seizure
• Secondary microcephaly
• EEG with burst suppression
• Abnormality of visual evoked potentials
• Neonatal hypotonia
• Epileptic encephalopathy
• Spasticity
• Cerebral atrophy
• Generalized myoclonic seizure
• Hypotonia

Also known as: early infantile epileptic encephalopathy 3