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Developmental and Epileptic Encephalopathies (DEEs)

Epilepsy is a brain condition that causes seizures (sudden bursts of unusual electrical activity in the brain). St. Jude Children’s Research Hospital evaluates and provides recommendations for rare, severe, and hard-to-treat types of epilepsies that start in childhood. These types of epilepsies are called developmental and epileptic encephalopathy (DEEs). 

DEEs often start in the first few days to the first few years of life. They affect how the brain works and how children develop. They can affect both males and females. 

Each type of DEE is rare. But many childhood epilepsy conditions are a type of DEE. Around 1 out of every 600 children has a DEE. 

Developmental and epileptic encephalopathies symptoms

Children with DEE often have seizures that are hard to control. There are many different types of seizures. Some may be short staring spells or quick muscle jerks. Others may cause the whole body to jerk in a steady rhythm.

Children with DEE may also have challenges with: 

  • Meeting developmental milestones
  • Cognition (learning, thinking, perceiving, emotions, awareness)
  • Movement
  • Behavior

These symptoms may start early in life and can be hard to manage.

Developmental and epileptic encephalopathies causes

The unusual brain activity in seizures may be caused by: 

  • Problems with how the brain formed
  • Injuries
  • Infections
  • Immune system problems
  • Problems with how the body uses energy (metabolic disorders)
  • Changes in genes that affect important brain functions

Genetic changes in developmental and epileptic encephalopathies 

Genes are inside the cells of the body. They carry instructions for how the body develops and functions. Gene changes (variants or mutations) can cause differences or problems for a person’s health and development. 

Epilepsy and DEEs can be caused by changes to genes. The genes that cause epilepsy and DEEs control important brain functions and how signals are sent to the body. Research has discovered that more than 400 genes could be involved. DEEs may be caused by changes in certain genes. Learn more about epilepsy genetics.

Many people with DEE do not have a family history of epilepsy. This could be because the person with DEE has a genetic change that is new to them (called “de novo”) and not passed down (inherited) from either parent. Right now, a genetic cause can be found in about half of all DEE cases, with the cause unknown in the other half.

Genetic testing can help find changes that cause seizures and other related symptoms, such as delays in a child’s development. 

Developmental and epileptic encephalopathies diagnosis

Your health care provider may:

  • Ask about your child’s medical history and their symptoms
  • Ask about your family’s health history 
  • Review and help interpret your child’s genetic testing results 
  • Recommend other evaluations such as an electroencephalogram (EEG) to check brain activity, imaging tests (MRI), or referrals to other medical specialists

If the provider thinks your child’s DEE is caused by a genetic change, they may also recommend and order genetic testing at the Epilepsy Genetics Clinic. 

Notes summarizing your consultation in the Epilepsy Genetics Clinic will be added to your medical record and shared with your local health care team.

Developmental and epileptic encephalopathies care at St. Jude

St. Jude provides the highest quality of care for patients with DEE. We do research to better understand, diagnose, and treat these rare, genetic neurological disorders in children. To do this, we:

  • Established The Center for Experimental Neurotherapeutics (CENT)  as part of the Pediatric Transitional Neuroscience Initiative (PTNI) to focus on these neurological disorders
  • Use samples and cells from eligible St. Jude patients to study these disorders 
  • Look for new genetic causes of DEE by studying all of a person’s genes (whole genome sequencing), not just small parts 
  • Use brain-like models in the lab, made from patient cells (organoids), to look at how genes are turned on or off during brain function and development 

Learn about the Mefford Lab’s research at St. Jude.

Developmental and epileptic encephalopathies prognosis

The seizures of DEE often start when the children are young and are hard to control. These seizures can affect the brain and cause significant problems, such as: 

  • Developmental delays
  • Losing skills they already had (regression)
  • Learning and thinking problems
  • Development of conditions like autism 

Developmental and epileptic encephalopathies clinical trials

Open clinical trials for DEEs

There are no open clinical trials for DEEs at this time.

Browse open clinical trials

Learn more about clinical research at St. Jude.

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Seeking treatment at St. Jude

Patients accepted to St. Jude must have a disease we treat and must be referred by a physician or other qualified medical professional. We accept most patients based on their ability to enroll in an open clinical trial.

How to seek treatment

Contact the Physician / Patient Referral Office

Submit online referral form

Call: 1-888-226-4343 (toll-free) or 901-595-4055 (local)  | Fax: 901-595-4011 | Email: referralinfo@stjude.org | 24-hour pager: 1-800-349-4334

 

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