developmental and epileptic encephalopathy 68

A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound

A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1.

Signs and symptoms

• Encephalopathy
• Exaggerated startle response
• Clonus
• Status epilepticus
• Developmental regression
• Cerebral cortical atrophy
• Global developmental delay
• Muscle fibrillation
• Failure to thrive
• Spasticity

Also known as: DEE68; early infantile epileptic encephalopathy 68