Genetic medicine to treat epilepsy

The word “Idiopathic” is one of the most used in medicine. Quizás el lector la haya escuchado o leido alguna vez en un informé medico. And paradoxical, idiopathic results mean that we do not know the origin or the cause of a health problem. The idiopathic nurses, entones, their water bodies in which the medicine does not know what he produced. And it has occurred in more than 70% of cases of epilepsy almost certainly. For sure something is changing in the last few years.

The epilepsy is a neurological disorder that affects cases 1 out of every 100 people, for it is calculated that hay alrededor de mid million of people with epilepsy in Spain. It is present in all cases, although it is more frequent in those cases in which the brain is subject to more changes and evolution, as in nines (by neurodesarroll) or in adults (by neurodegeneration).


People with epilepsy, by definition, have a predisposition to present epileptic seizures, the cues can manifest in various ways:

– Una generalized convulsion with loss of conscience (which the Mayor of the population identifies as epileptic crisis)

But also with more common symptoms like:

Sacudidas in a brazo

– Una disconnection of the medium with loss of reaction to entrenchment or all types of subjective perceptions (from a “déjà vu” sensation exaggerated to the appearance of sightings in the vision). Sufren also has other issues like:

– Un social stigma classic that persists today

– Difficulties in the laboratory entrance

Impossibility to drive vehicles and epileptic seizures are not controlled. You are not aspect of piano, el control de las crisis. Today, with antiepileptic modern treatments, a large majority of people with epilepsy have their crisis controlled and can have a normal life in all aspects.

Common treatment

Syndembargo, en alrededor de a third of people with epilepsy, it is a refractory drug. It is said by many pharmacists that the patient tome (existen hoy en día more than 20 available in the market), the epileptic crisis followed. And here is where the need (and the possibility) of precision medicine lies.

The epilepsy is treated classically in a very self-evident manner the cause, but in the last years we have seen that different causes require different treatment strategies. For many focal epilepsy, which depend on a lesion (foco) in a part of the cerebro that generates the epileptic crisis, conduct a correct study with neuroimagen techniques and electroencephalogram of ultimate generation allows to perform an epilepsy surgery (remove the cerebral cortex the crisis. And now there are more and more “minimally invasive” surgeries, such as those performed in epilepsy centers that specialize in reading or thermocagulation. immunological origin (inflammation, tanning in these times COVID-19), the treatments tend to be immunomodulators.

Treatment of genetics

The great quality jump of the last years has been genetics. Genetic diagnostic techniques are based on the concept of “idiopathic” or “without known cause” in the most severe epilepsies, those that affect children and that are associated with intellectual disability, autism and other neurodegenerative problems.

Currently, with the Modern sequencing techniques, we are able to diagnose have got 50% of the antidotes considered “idiopathic”, reducing the incidence, the search for answers and the prospect of not having a diagnostic.

Nine parents with epileptic encephalopathies or neurodegenerative problems (as this type of severe epilepsy is classified) suffers from the name “diagnostic odor”: an incessant search for answers that will last for a long time. Pero the genetic diagnostic has not only been avoided the diagnostic odor. Also allowed to make a precision medicine in more cases. However, if there is a mutation in SCN1A (the most frequently mutated gene in epilepsy), no pharmacies can be used for the empirical person, or they must use other specific ones to help more.

And the supply of precision medicine does not have to grow. The rare diseases, classically “hearing-impaired” of investigation and treatment, are currently receiving the attention of a mayor and clinical trials with specific therapies being multiplied. For example, with cannabidiol or CBD (a cannabis derivative) or fenfluramine in Dravet syndrome, or with ganaxolone in CDKL5 deficiency syndrome, for example some clinical trials of our team.

An integral vision, with specific guided therapies, avoiding judgment, and paying attention to other aspects of illness, such as cognitive problems, social relationship or movement, are fundamental to helping these people and their families. More so, in the current context, in which the COVID-19 pandemic has increased the access of these families to assistance resources and necessary care. Without embarrassment, the truck of precision medicine is unprofitable, and many more diagnostic and personalized therapies are available to come in the near future.

Hablamos del Dr. Ángel Aledo Serrano, Neurologist specializing in epilepsy at the Corachan Clinic


Twitter: @Aaledo