developmental and epileptic encephalopathy 89

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1.

Signs and symptoms

• Profound intellectual disability
• Global developmental delay
• EEG with burst suppression
• Cleft palate
• Flexion contracture
• Myoclonic seizure
• Epileptic spasm
• Axial hypotonia
• Talipes equinovarus
• Spasticity

Also known as: DEE89; early infantile epileptic encephalopathy 89