Developmental & Epileptic Encephalopathy Symptoms, Causes, & Diagnosis

Seizures in children may be caused by structural brain abnormalities, infections, metabolic abnormalities or immune disorders. Epilepsy is a chronic disorder with recurrent, unprovoked seizures and is another term for seizure disorder. Childhood epilepsy may also be due to a genetic mutation that runs in the family or that appears for the first time in the child.

DEE is a chronic disorder manifesting as recurrent unprovoked seizures associated with developmental impairment involving one or more domains (motor, social, language, cognition). Seizures may manifest in many ways. They may appear as stiffening of the body (tonic) often associated with jerking and changes in breathing or heart rate.

Brainwave tests (EEGs), brain imaging studies, and neurological examination are used to diagnose DEE. When other causes are ruled out, a genetic test may be ordered.

Anti-seizure medications, sometimes in combination, provide front-line therapy for children with epilepsy and DEE. In DEE, seizures and brain dysfunction may respond poorly to existing drugs. Next-generation drugs in development seek to address underlying genetic causes of DEE.