What Is Epileptic Encephalopathy?

 A collection of neurological disorders known as epileptic encephalopathy entail severe epilepsy. The convulsions in epileptic encephalopathy situations worsen the brain's already existing damage.

A collection of brain disorders known as epileptic encephalopathy (EE) typically begin in childhood but can also manifest in adults. They are characterised by intense, occasionally ongoing seizure activity that damages the brain and impairs intellect (the capacity to reason) and behaviour.

Antiepileptic drugs may not be effective in treating these diseases, and additional medications and treatments, such as surgery, may be necessary.

What Is Epileptic Encephalopathy?

According to the International League Against Epilepsy, EE situations are those in which seizure activity itself significantly worsens cognitive and behavioural functioning than would be anticipated from the underlying condition alone. These limitations could deteriorate over time.

Infants with EE may experience ongoing convulsions, which can harm the brain and impair cognitive and behavioural development. Infants may experience growth setbacks, regress, or cease growing altogether.

There are various EE subtypes, each with its reasons and signs:

  • Ohtahara syndrome
  • epilepsy with continuous spike waves during slow-wave sleep
  • Landau-Kleffner syndrome
  • Dravet syndrome
  • Lennox-Gastaut syndrome
  • myoclonic status in nonprogressive encephalopathies
  • early myoclonic encephalopathy
  • West syndrome (infantile spasms)

What Signs Are Present In Epilepsy Encephalopathy?

Depending on the particular situation a person has, EE symptoms will vary. All kinds, though, involve regular seizures, and the majority involve multiple seizure types.

The most typical seizure kinds observed in EE are:

Tonic seizures

These frequently involve the trunk's or extremities' muscles stiffening while you slumber.

Atonic seizures

Atonic seizures, also known as akinetic seizures or drop attacks, entail a sudden lack of muscular power.

Myoclonic seizures

Short, jerky movements are a part of myoclonic seizures, which can impact a single muscle or a collection of muscles.

Those who have EE may also suffer different kinds of seizures, including:

  • focal seizures
  • generalized tonic-clonic seizures
  • nonepileptic seizures
  • absence seizures

Infants and kids with EE may experience cognitive delays or regression, which is the loss of previously acquired abilities.

How Is Epilepsy Encephalopathy Brought On?

The most frequent cause of EE in infants is structural alterations in the brain. The alterations could be genetic (existing from conception) or they could appear after delivery as a result of other factors, such as inadequate oxygenation of the brain before or during delivery.

Other potential sources of EE include:

Genetic mutations

Nearly all hereditary factor gene mutations that occur randomly and do not spread in families are a reliable source of seizures.

Inherited genetic changes

Chromosome 2 gene alterations or differences in several other single genes may be the inherited causes of EE.

Metabolic disorders

The body produces either too little or too much protein or enzyme as a result of metabolic diseases. Seizures may result from them, and several have been connected to EE.

Brain structural alterations or abnormal brain development.

A baby's brain may grow abnormally, raising the chance of seizures.

Brain injury

Injury to the brain can happen before, during, or after pregnancy and result in EE.

How Is Epileptic Encephalopathy Diagnosed?

The most common way to diagnose EE is with an electroencephalogram (EEG). Small sensors, either embedded in the baby's cap or momentarily adhered to the baby's cranium with a light adhesive, are used in this test. This examination is typically carried out by medical personnel while the infant is conscious and asleep.

When determining the presence of EE, medical personnel may also perform the following tests:

Visualisation using magnetic resonance (MRI)

MRI is a tool used by medical experts to scan the brain for anatomical alterations.

Metabolic screening

The following metabolic tests may be helpful to look for hereditary metabolic diseases:

  • urine organic acid analysis
  • blood ammonia
  • blood tandem mass spectrometry
  • arterial blood gas
  • lactate analysis

Genetic testing

Some forms of EE are linked to both random and hereditary genetic mutations. Genetic testing can assist with diagnosis and therapy planning by detecting genetic alterations.

What Is The Prognosis For Individuals With Epilepsy Encephalopathy?

Serious convulsions and deteriorating neurologic function are the primary characteristics of EE. In some forms of EE, effectively managing the convulsions may enhance a child's chances of developing normally.

Epilepsy, developmental delays, and cognitive impairments are likely to require lifetime care for infants with EE. Some babies with EE are more susceptible to passing away from conditions like convulsions.


Is Epileptic Encephalopathy Fatal?

Death frequently occurs in infancy (happens 50% before age 2), and the prognosis is bleak.

Is Epileptic Encephalopathy Curable?

Most are difficult to treat because they are drug-resistant.

Is Epileptic Encephalopathy Genetic?

The cause of epileptic encephalopathies is frequently hereditary.

The Takeaway

A collection of illnesses known as EE are characterised by violent convulsions that harm the brain and lead to behavioural and cognitive delays. The management of these convulsions might enhance growth. Antiepileptic drugs might not work well for all kinds of EE, though.

EE primarily affects infants and early children, though it can also affect people. People with EE probably need care and therapy for the rest of their lives.