What is epileptic encephalopathy?

THE International League Against Epilepsy defines EE conditions as those in which seizure activity itself contributes to severe cognitive and behavioral impairment greater than would be expected from the underlying condition alone. These deficiencies can worsen over time.

In infants with EE, the seizures may be continuous and the seizures may hurt the brain, affecting cognitive and behavioral functioning. Infants may have developmental delays, regress in development, or stop progressing.

There are several types of EE that have unique causes and symptoms:

• Ohtahara syndrome
• West syndrome (infantile spasms)
• Duct Syndrome
• myoclonic state in non-progressive encephalopathies
• Lennox-Gastaut syndrome
• Landau-Kleffner syndrome
• early myoclonic encephalopathy
• epilepsy with continuous spikes during slow-wave sleep

Learn more about encephalopathy.

Symptoms of EE will depend on an individual’s specific condition. However, all types involve frequent seizures, and most involve more than one type of seizure.

The most common types of seizures seen in EE are:

• Tonic crises: These often occur during sleep and involve stiffening of the muscles of the limbs or trunk.
• Atonic seizures: Also called akinetic seizures or falling seizures, atonic seizures cause a sudden loss of muscle strength.
• Myoclonic seizures: Myoclonic seizures involve short, jerky movements and can affect a single muscle or a group of muscles.

People with EE may also experience other types of seizures, such as:

Babies and children with EE may experience developmental delays or regression – the loss of skills they had previously learned.

Structural changes in an infant’s brain are the most common cause of EE. Changes can be congenital (present before birth), or they may develop after childbirth due to other factors, such as a lack of oxygen to the brain before or during childbirth.

EE has several other possible causes:

• Gene mutations: Most genetic causes epilepsy are random genetic mutations that are not inherited.
• Inherited genetic changes: EE can be caused by inherited changes in genes on chromosome 2 or by changes in several other unique genes.
• Metabolic disorders: Metabolic disorders cause the body to make too much or too little protein or enzymes. They can cause seizures, and several have been linked to EE.
• Structural changes or atypical development of the brain: A baby’s brain can develop in atypical ways that could increase the risk of seizures.
• Cerebral lesion – brain-damage: Brain damage can occur during development or childbirth or after birth and can cause EE.

Electroencephalogram (EEG) is the primary method of diagnosing EE. This test uses small electrodes, which are either in a cap that the baby is wearing or lightly taped or temporarily stuck to the baby’s head. Healthcare professionals will usually perform this test both when the infant is awake and while sleeping.

Healthcare professionals may also use the following tests when diagnosing EE:

• Magnetic Resonance Imaging (MRI): Health professionals use MRI to look for structural changes in the brain.
• Metabolic screening: To check for inherited metabolic diseases, the following metabolic screens can be useful:
• Genetic test: Some types of EE are associated to hereditary genetic changes and spontaneous genetic mutations. Genetic test can identify genetic changes and aid in diagnosis and treatment planning.

The main features of EE are severe seizures and deterioration of neurological function. In some types of EE, successfully treating seizures can improve a child’s developmental prospects.

Infants with EE will likely need lifelong care for epilepsy, developmental delays, and cognitive impairment. Some infants with EE are more likely to die from seizures or other conditions.

Is epileptic encephalopathy fatal?

Infants with certain types of EE are at a greatest risk premature death than infants who do not have EE, but it depends on the type they have and any other underlying conditions.

Is epileptic encephalopathy curable?

Research into the treatment of EE is ongoing, but the condition is generally not curable. Depending on the type, treatment can help reduce symptoms and improve development. However, EE is associated to loss of neurological function over time.

Is epileptic encephalopathy genetic?

Yes it’s possible. Some forms of EE have been linked inherited genetic changes and random genetic mutations.

EE is a group of conditions characterized by severe seizures that cause brain damage and cognitive and behavioral delays. Treating these seizures can help improve development. However, some types of EE may not respond well to antiepileptic drugs.

EE mainly occurs in babies and young children, but can also occur in adults. People with EE will likely need lifelong care and treatment.