Between 10 and 20% of epilepsy cases have an identifiable genetic cause

epilepsia genética
  • In Spain, around 350,000 people suffer from epilepsy, with 29,000 being cases younger than 15 years old
  • Dr. Ángel Aledo, neurogeneticist at Health in Code and Director at Instituto de Neurociencias Vithas Madrid, explains the importance of genetic studies to improve treatment decisions, control epileptic seizures, and improve prognosis.
  • “I can’t imagine an epilepsy center that will not be talking about genetics in a few years”.

Madrid, February 13, 2023. Epilepsy is a group of diseases that are characterized by an alteration in the functioning of the brain that leads to epileptic seizures. It is a chronic disease that can be controlled in a high number of patients, as long as it is properly diagnosed and appropriate treatment being provided According to data from the Spanish Federation for Epilepsy (FEDE), it is estimated that in Spain there are around 350,000 people with epilepsy, with 29,000 younger than 15 years old. This means that the prevalence stands at almost 0.8% of the population (8 cases per 1,000 inhabitants). These data are approximate, since there is no official registry of people affected by epilepsy. On the occasion of International Epilepsy Day, this year celebrated on February 13, more and more experts call for a greater use of genetics to help their patients.

Epilepsy has a range of underlying factors, in presentation and difficult to diagnose. Some forms of epilepsy have an identifiable genetic cause, and more and more genes are known to cause some of these forms, which had been previously labeled as ‘idiopathic’ (of unknown cause). According to Dr. Ángel Aledo Serrano, neurogeneticist at Health in Code and Director at Instituto de Neurociencias Vithas Madrid, “overall, between 10% and 20% of epilepsy cases may be genetic. This is more likely if the seizures are difficult to control or start in the first years of life, among other factors.”

Early diagnosis of the disease with appropriate tests, such as a high-resolution MRI, 12- or 24-hour video-EEG monitoring and genetic screening, can help to better guide treatment decisions, leading to better control of epileptic seizures and improving the prognosis for many types of epilepsy. As for genetic studies, they have traditionally been limited to complex or refractory patients. However, there are many benefits to considering a genetic test as one of the first tests in a patient who presents with a form of epilepsy. Epilepsy studies are increasingly looking not only for diagnosis but also an approach to individualized medicine, in which the finding of a variant (mutation) in a certain gene can also provide very valuable help when selecting the best therapeutic strategy.

In this sense, Dr. Aledo affirms that “genetics represents a before and an after in epilepsy, the same way as in many other fields of medicine. Increasingly more precise diagnoses and treatments directed at the root cause of a patient’s condition will continue to revolutionize the way we treat our patients in the future. I cannot imagine that, in a few years, there will be epilepsy consultations for families where genetics will not be discussed”.

In order to address precision medicine in epilepsy in depth, FEDE has organized a session on February 14 as part of the Epiforward program, in which Dr. Ángel Aledo will participate with his presentation “Precision medicine in epilepsy: Towards correct diagnosis”. In it, he will address how genetics helps treat many epilepsies more accurately, better understand the symptoms and prognosis, and thus help the patient and their families have a better quality of life.