Epilepsy May 24 National Day

Epilepsy, a disease as old as humanity

(Madrid. Lucila Rodríguez)

In Spain, between 300,000 and 400,000 people (29,000 children under 15 years of age) suffer from epilepsy, a disease that is as old as mankind and for which, fortunately, there is a high level of scientific and medical knowledge that allows most patients to be treated effectively.

This is stated by the Epilepsy Unit of the Ruber Internacional Hospital, whose medical team, led by Dr. Antonio Gil-Nagel, uses the most advanced procedures in the treatment of epileptic encephalopathies (a group of epileptic syndromes that cause cognitive and behavioral alterations and begin in childhood) and focal epilepsies (the most common).

It is a neurological disease characterized by a continuous predisposition to epileptic seizures that causes neurobiological, cognitive, psychological and social problems. In order to speak of epileptic seizures, one must have suffered at least two unprovoked seizures in less than 24 hours; have, after the occurrence of these two, an unprovoked seizure and a probability of having another one during the next 10 years similar to the general risk of recurrence; and receive a diagnosis of an epileptic syndrome.

“Epilepsies are usually mild and are controlled with medication or remit after some time. Most of them require pharmacological treatment, but some, such as the self-limited focal epilepsies of childhood, usually evolve well without medication,” explains the neurologist and physician of the Epilepsy Unit, Irena García Morales.

However, the World Health Organization (WHO), in its measurement of the global burden of disease, ranks epilepsy as the second neurological disease in terms of years of life potentially lost, or lived with disability. In fact, the mortality rate among patients with epilepsy is two to three times higher than that of the general population, although this increase is lower in those cases in which the disease is well controlled.

The importance of early diagnosis

For this reason, it is necessary to diagnose the disease early, for which a clinical interview is usually performed to help guide the diagnostic process in an individualized manner, as well as tests such as brain MRI or prolonged video EEG monitoring. In addition, in recent years genetic testing has become increasingly important because it allows treatment to be personalized.

Fortunately in Spain there are professionals who are highly trained in this disease, as well as diagnostic means to evaluate different degrees of epilepsy, as in the case of the Epilepsy Unit, where patients come to receive a second opinion on a diagnosis already received, and which is usually refractory or drug-resistant epilepsy.

This is a situation, as reported by the neurologist and assistant physician of the aforementioned unit, Álvaro Beltrán Corbellini, in which patients not only suffer epileptic seizures, but also cognitive difficulties such as, for example, problems with concentration, speed of information processing, language, memory, as well as motor, sleep or mood disorders.

“All these additional problems can have their origin both in the epilepsy itself and in the underlying pathology that causes it, and also in the adverse effects of the treatments we use,” says the doctor, who insists on the need for consultations to assess all these aspects in detail in order to optimize diagnosis and treatment and improve patients’ quality of life.

In this regard, the neurologist and assistant physician of the Epilepsy Unit of the Ruber Internacional Hospital, Rafael Toledano, highlights the usefulness of the ESI technique, which the center has pioneered in its use and which consists of the implantation of more than 72 surface electrodes in patients admitted for a week to precisely determine the location of the brain area where epileptic seizures originate.

Research, key to improving patients’ quality of life

In addition, this year the Unit has begun to participate as a collaborating center in the ‘MELD’ study where artificial intelligence techniques are being applied to locate hidden brain lesions that are responsible for the onset of epilepsy in some patients.

“In surgery for the disease, we are a reference center in the surgical treatment of drug-resistant epilepsies that are difficult to locate, and we have also been pioneers in stereo-electroencephalography, a neurophysiological technique that consists of the implantation of deep intracerebral electrodes to locate the area that generates the seizures,” explains the doctor.

Regarding the future approach to the disease, several studies are being carried out to evaluate the safety and effectiveness of new treatments, as well as to discover new uses for existing therapies. “In our Epilepsy Unit there is a Clinical Trials Unit, which has been in operation for more than two decades, and where we have several international multicenter trials open, both for refractory focal epilepsy and for epileptic and developmental encephalopathies (such as Dravet syndrome or Lennox-Gastaut syndrome), as well as for more specific entities, such as tuberous sclerosis or epilepsies in relation to certain genetic alterations, such as pathogenic variants in sodium transporters (SCN2A, SCN8A), among others,” Dr. Beltrán Corbellini explains.

Finally, experts insist on the importance of encouraging and promoting research into new mechanisms of action to control seizures and modify the course of epilepsy because, although it is as old as mankind, a cure has not yet been achieved.