developmental and epileptic encephalopathy 82

A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or comp

A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.

Signs and symptoms

• Progressive microcephaly
• Delayed speech and language development
• Seizure
• Increased circulating lactate concentration
• Severe intellectual disability
• Recurrent infections
• Feeding difficulties in infancy
• Hyperammonemia
• Neonatal hypotonia
• Cerebellar vermis hypoplasia

Also known as: DEE82; early infantile epileptic encephalopathy 82