Developmental & Epileptic Encephalopathy Symptoms, Causes, & Diagnosis

This group of disorders combines unremitting epileptic activity and severe cognitive and motor impairments

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Epileptic Encephalopathy

What is Developmental and Epileptic Encephalopathy (DEE)?

  • What Causes Epilepsy?
  • What are the Signs and Symptoms of DEE?
  • How Do You Diagnose DEE?
  • How are Epilepsy and DEE treated?
What Causes Epilepsy?
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.
What are the Signs and Symptoms of DEE?
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.
How Do You Diagnose DEE?
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.
How are Epilepsy and DEE treated?
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.

Epileptic encephalopathy could be caused by a KCNQ2-EE mutation


Our Research Target is Epileptic Encephalopathy Caused by a KCNQ2 Gene Mutation

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