developmental and epileptic encephalopathy 51

A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in

A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.

Signs and symptoms

• Poor head control
• Seizure
• Hypotonia
• Elevated lactate:pyruvate ratio
• Delayed ability to crawl
• Delayed ability to sit
• Muscle weakness
• Absent speech
• Global developmental delay
• Increased circulating lactate concentration

Also known as: DEE51; early infantile epileptic encephalopathy 51