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The origin of refractory epilepsy, key to effective treatment

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The origin of refractory epilepsy, key to effective treatment

THE epilepsy is one of the most common neurological diseases worldwide and affects approximately 50 million people worldwide, according to the World Health Organization (WHO). It is a neurological disorder that causes abnormal electrical activity in the brain, called an epileptic seizure.

A disease that affects people from all agesalthough its incidence is generally higher in young children and people over 60 years of age and who, in most cases, are treated with antiepileptic drugs. However, there is a the most resistant form of this diseasecall refractory epilepsyon which these drugs have no effect, and for which a more specialized diagnostic and therapeutic approach is necessary.

What is refractory epilepsy?

Refractory epilepsy is, as they say, that which does not respond adequately to drug treatment for causes ranging from structural brain damage to genetic factors, infections and autoimmune diseases.

A form of complex epilepsy in which “correctly identify the cause “is vital, both for its diagnosis and for its treatment”, as explained by Dr Antonio Gil-Nagel Rein, epilepsy neurologist and director of the epilepsy unit at Ruber International Hospital which also affects the need “to have a detailed medical history in which all information from the patient, family members, caregivers and witnesses to epileptic seizures is collected.

A correct diagnosis

In order to find the cause of epilepsy and be able to apply effective treatment, the joint work of a multidisciplinary team involving neurologists, radiologists, geneticists and neuropsychologists who explore all options and can provide personalized treatment adapted to the needs of each patient.

The first step is to make a MRI this helps detect any abnormalities that could cause epileptic seizures. Yeah there is a structural injury which explains the epileptic seizures, the treatment can be oriented more precisely and we can opt for a surgical option such as laser thermocoagulation or open surgery to reduce seizure activity. If on the contrary MRIs do not reveal structural lesionsthe diagnosis must be deepened with advanced neurophysiological studies and a detailed analysis of the symptoms that occur at the onset of attacks.

Some studies, which, as Dr. Gil-Nagel explains, “may include video monitoring of an electroencephalogramas well as the use of artificial intelligence algorithms which make it possible to superimpose the information obtained on magnetic resonance images, thus improving the precision of the localization of the epileptic focus.

A crucial tool

He electroencephalogram (EEG) is key to diagnose refractory epilepsy, although sometimes, standard studies may be insufficient for being too short and not capturing all phases of the day, nor certain important regions of the brain. For this reason, it was decided to use the Extended video-EEG with additional electrodesa test which is carried out over several days and which is essential to precisely identify the origin of seizures.

Prolonged video-EEG is particularly useful, according to neurologist Quirónsalud, because “it allows record both visible seizures and electrical seizures that do not have symptomshelping to precisely locate the epileptic focus, and also making it possible to correlate the electrical patterns of the brain with the physical symptoms during seizures, essential in complex epilepsies.

An in-depth review

If after carrying out the usual examinations the epileptic seizures still cannot be localized, we resort to deep electrodes implanted in specific areas of the brain which make it possible to identify with great precision the focus of epileptic activity in deeper areas of the brain.

“A procedure guided by high-precision surgical navigators,” adds Dr. Gil-Nagel, who “It is also used therapeutically”, since the electrodes allow the application of procedures such as electrical stimulation or thermocoagulation, reducing or eliminating epileptic activity in the affected region.

Genetic and autoimmune epilepsies

Identify it gene responsible of genetic epilepsy is very important because advances in genetics now allow us to create therapies targeting specific mutations and, therefore, apply personalized treatments for each patient.

Furthermore, the repositioning of drugs like cannabidiol wave fenfluramine also opened up new treatment possibilities for this type of epilepsy, and they have significantly improved the quality of life of patients which do not respond to conventional treatments.

For its part, in the autoimmune epilepsies (in which the patient’s immune system attacks its own brain tissue causing epileptic seizures), and which continue to represent a diagnostic and therapeutic challenge; are applied immunomodulatory treatments.

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