developmental and epileptic encephalopathy 67

A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic be

A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12.

Signs and symptoms

• EEG abnormality
• Global developmental delay
• Intellectual disability
• Generalized myoclonic seizure
• Bilateral tonic-clonic seizure
• Generalized non-motor (absence) seizure
• Gait disturbance
• Epileptic encephalopathy
• Recurrent hand flapping
• Tonic seizure

Also known as: DEE67; early infantile epileptic encephalopathy 67