developmental and epileptic encephalopathy 19

A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34.

Signs and symptoms

• Subependymal nodules
• Moderate intellectual disability
• Focal impaired awareness seizure
• Hypotonia
• Thin corpus callosum
• Severe intellectual disability
• Mild global developmental delay
• Intellectual disability
• Cerebral atrophy
• Focal hemiclonic seizure

Also known as: DEE19; early infantile epileptic encephalopathy 19