What is epilepsy?

Epilepsy is a chronic brain disease characterized by a predisposition to recurrent seizures. An epileptic seizure is a time-limited episode produced by excessive neuronal discharge. Epileptic seizures can manifest themselves in different ways, from involuntary movements of the body to alterations in consciousness and strange sensations.

A person is considered to have epilepsy if they have had at least two unprovoked seizures (not provoked by high fever, drugs, metabolic disorders, etc.), separated by more than 24 hours, or if they have had one seizure, but there is a high probability that they may have more seizures in the future. Epilepsy is a disease that affects both children and adults, and often has a significant impact on the quality of life of those who suffer from it. 

Causes of epilepsy

The epilepsy can be due to different causes. They are as follows:

Genetic causes

Some forms of epilepsy have a genetic component, meaning that certain genetic mutations, either inherited, or occurring as new-onset, can produce epilepsy. For example, Dravet syndrome.

Structural causes

Brain damage such as congenital brain malformations, brain tumors, head trauma, stroke, and brain scarring (gliosis) can affect the brain's normal electrical activity and increase the likelihood of seizures.

Infectious causes

Some brain infections, such as meningitis, encephalitis, and neurocysticercosis, can damage brain tissue and disrupt normal brain function, which can result in the onset of epilepsy.

Autoimmune causes

In certain cases, the body's immune system can mistakenly attack the brain and cause chronic inflammation of the brain (autoimmune encephalitis). This inflammation can trigger the onset of epilepsy. 

Unknown cause

In many cases, the underlying cause of epilepsy cannot be found. This is referred to as idiopathic epilepsy. Although the cause is not known, treatment focuses on controlling seizures and improving the patient's quality of life.

Symptoms of epilepsy

The symptoms and types of seizures can vary widely depending on the type of epilepsy and the which region of the brain is affected:

  • Generalized tonic-clonic seizures. Generalized seizures are characterized by loss of consciousness and muscle stiffness, followed by rhythmic movements and jerks throughout the body. There may be tongue biting, loss of bowel control, and labored breathing.
  • Focal seizures. These seizures affect a specific part of the brain, and symptoms depend on which region of the brain is affected. Symptoms may include involuntary movements in an area of the body, abnormal sensations (such as tingling or feeling of electricity) in a part of the body, visual disturbances, changes in mood, or intense feelings of fear or joy.
  • Absence seizures. Absence seizures involve brief periods of loss of consciousness that may last for a few seconds. During an absence seizure, the person may appear disconnected or absent, unresponsive to the environment. There may be mild movements, such as rapid blinking or repetitive movements of the lips or hands.  
  • Myoclonic seizures. Myoclonic seizures are characterized by sudden, brief muscle movements, such as jerking or spasming in the arms, legs, or upper body.

How epilepsy is diagnosed

Diagnosis of epilepsy involves several tests:

  • Medical history and physical exam. The neurologist will obtain detailed information about any symptoms the patient has had (if the patient has not been conscious of the symptoms, someone who has witnessed the symptoms will need to describe them), and the patient's medical history, including any family history of epilepsy, and any events or injuries that may have led to the seizures. A complete physical exam will also be performed to rule out other possible causes of the symptoms. 
  • Electroencephalogram (EEG). This is a key test for diagnosing epilepsy. It involves placing electrodes on the scalp to measure the electrical activity of the brain. During the EEG, the patient may be subjected to different stimuli, such as flashing lights or forced hyperventilation, to try to trigger epileptic activity so that it can be recorded on the EEG. An EEG performed while the patient is sleeping provides even more information.
  • Video EEG. Combines using electroencephalogram (EEG) to record the brain’s electrical activity with video recording of the events the patient experiences during the test.

The main goal of a video EEG is to correlate changes in electrical activity in the brain with clinical events and symptoms that the patient experiences. This helps determine if the symptoms are caused by epileptic activity and what type of epilepsy it is.

In addition, a video EEG video lets the clinician observe the full clinical manifestation of epileptic events, which can provide additional information for diagnosis and treatment. It also makes it possible to locate the area of the brain provoking seizures, which is essential when considering surgery for the patient.

The duration of the EEG video test can vary, from a few hours to several days, depending on the frequency and nature of the seizure activity. During this time, the patient is in a special room, with medical supervision, and the EEG and video are recorded continuously.

  • Brain imaging tests. Brain imaging tests, such as magnetic resonance imaging (MRI) or computed tomography (CT) scan, may be used to detect structural abnormalities or lesions in the brain that may be associated with epilepsy.
  • Other studies. In some cases, additional tests, such as genetic testing, blood tests, or metabolic tests, may be done to try to clarify the cause of epilepsy. 

Epilepsy treatment

Treatment of epilepsy can vary depending on the type of epilepsy, the frequency and severity of seizures, as well as the individual needs of the patient. Treatment must always be adapted to the special conditions of each patient. The main treatments are:

Antiepileptic drugs (AED)

This is the most common treatment for controlling seizures. These drugs are prescribed according to the type of epilepsy and are selected according to the individual characteristics of each patient. There are many antiepileptic medications available, and the type and dosage of medication will be individually adjusted on the patient's response, which may vary over time.

Epilepsy surgery

It is estimated that in at least 30% of cases of epilepsy, medication fails to provide adequate seizure control, and in these cases, depending on the type of epilepsy, surgery may be considered. Surgery may be an option for those patients in whom a specific region of the brain has been identified as responsible for the seizures, if resection or disconnection of that area can reduce or eliminate seizures. Before considering surgery, a thorough evaluation is necessary, including but not limited to a prolonged EEG video. 

Vagus nerve stimulation (VNS)

This therapy involves the surgical implantation of a device that electrically stimulates the vagus nerve, which is a communication pathway between the brain and other parts of the body. Vagus nerve stimulation may reduce the frequency and severity of seizures for some people with epilepsy who do not respond well to medications.

Stimulation of the anterior nucleus of the thalamus

Deep brain stimulation of the anterior nucleus of the thalamus (ANT-DBS) is a form of brain neuromodulation used in the treatment of epilepsy. In this treatment, electrodes are surgically implanted in the anterior nucleus of the thalamus, a deep region of the brain, to deliver electrical stimulation to this area with the aim of reducing the frequency and severity of seizures.

Ketogenic diet

This is a high-fat, low-carbohydrate diet that has been shown to be effective in reducing seizures in some cases of epilepsy, especially in severe childhood epilepsies.

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