DEEs are a group of rare and severe seizure disorders. They are associated with frequent seizures of varying types and intellectual disability—often coupled with significant developmental delay.
Most DEEs commonly begin in infancy or childhood (but may also first occur in adults). These children often have frequent and severe seizures of a variety of types. Typically, DEEs begin during early infantile or childhood periods, although any age group inclusive of adults can be affected.
There are a variety of kinds of DEES. Some of these include:
A seizure is an event in a condition called epilepsy. Epilepsy is a brain disorder in which a person has two or more seizures that occur more than 24 hours apart. A seizure is a surge of electrical activity in the brain that can lead to a variety of symptoms, depending on which part of the brain is affected.1
Most patients with DEEs are now recognized as having some kind of genetic variant that causes their seizures. In one study of patients with diagnosed DEEs, nearly one third had genetic alterations in known or novel genes. As a result, an increasing number of genetic variants and mutations are associated with an increased risk of developing a DEE condition.1
Causes of DEEs can include a variety of problems in the body, including:
Diagnosing the cause and specific type of DEE can help determine the best treatment. Treatment and management options for DEEs may include2:
In most cases, medications or other interventions are used to control the frequency and severity of seizures, and do not change the baseline level of functioning. However, reducing the seizure burden can lead to an improvement in quality of life. Sometimes when it appears seizures are controlled, breakthrough seizure activity can occur, and when this happens, more aggressive seizure treatment is needed.
