developmental and epileptic encephalopathy 33

A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation

A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Incoordination
• Hypsarrhythmia
• Absent speech
• Delayed speech and language development
• Seizure
• Global developmental delay
• Hypotonia
• Secondary microcephaly
• Myoclonic seizure

Also known as: DEE33; early infantile epileptic encephalopathy 33