Dr. Angel Alido Serrano
A neurologist specializing in epilepsy at Clínica Corachan
Word “unknown reason” It is one of the most commonly used drugs. The reader may have heard it or read it in a medical report. It is a paradox, because idiopathic means we do not know the origin or cause of a health problem. Idiopathic diseases, then, are those in which the doctor does not know what caused their occurrence. This occurred in more than 70% of epilepsy cases until very recently. Fortunately, something is changing in recent years.
Epilepsy It is a neurological disease that affects approximately 1 in 100 people, So it calculates that there is about Half a million Epilepsy patients In Spain. It occurs at all ages, although it is more common at those ages when the brain undergoes further changes and development, such as in children (due to neurodevelopment) or in the elderly (due to neurodegeneration).
Symptoms
People with epilepsy, by definition, are predisposed to seizures, which can appear in different ways:
– a Generalized fit With loss of consciousness (which most residents consider an epileptic seizure)
But also with more subtle symptoms like:
– Vibrating On one arm
– a Separation from the medium With loss of reaction to the environment (absence) or all kinds of self-perceptions (from exaggerated feeling of “déjà-vu” to the appearance of hallucinations in vision). They also suffer from other problems such as:
– a Social stigma A classic that has continued until today
Difficulties in the work environment
– Impossibility of driving Vehicles if seizures are not controlled. And this is a major aspect, crisis control. Today, with modern antiepileptic treatments, the vast majority of people with epilepsy have their seizures controlled and can lead a normal life from all sides.
A common treatment
However, at about One third Of people with epilepsy, it is an anti-drug. That is, for many drugs that the patient is taking (there is at the present time More than 20 available In the market), Epileptic seizures keep appearing. This is where the need (and potential) for precision medicine arises.
Epilepsy is treated Classically the same regardless of the cause, but in recent years we’ve seen that different causes require difference Treatment strategies. For many Focal epilepsy, Which depends on a lesion (focus) in a part of the brain that generates epileptic seizures, and a correct study using the latest neuroimaging and electroencephalography techniques allows for epilepsy surgery (removing the area of the brain that generates epilepsy) and eliminating crises. And now there are more and more “minimally invasive” surgeries, such as those that we perform in specialized epilepsy centers with laser or thermal coagulation. For others, they have a Immune origin (Inflammatory, very common in these COVID-19 times), treatments must be immunomodulatory.
Genetic therapy
The great paradigm shift In recent years it has been genetics. Genetic diagnostic techniques end the concept of “idiopathic” or “no known cause” in the most severe types of epilepsy, those that afflict children and are associated with intellectual disability, autism and other neurodevelopmental problems.
Currently, with Modern sequencing techniquesWe are able to diagnose up to 50% of those previously considered “idiopathic”, reduce uncertainty, seek answers and worry about not having a diagnosis.
Parents of children with epileptic encephalopathy or neurodevelopmental problems (this is how this type of acute epilepsy is classified) have what is called the “Diagnostic Saga”: a relentless search for answers becomes a difficult and tortuous path. But the genetic diagnosis has not only succeeded in avoiding the diagnostic saga. It also allowed precision medicine to be performed in more cases. Know that if there is a mutation in SCN1A (the gene most mutated in epilepsy), then some drugs cannot be used because the person will get worse, or certain drugs should be used because they help more.
The shower of precision medicine is constantly increasing. Rare diseases, the classic “orphan” resulting from research and treatment, are now receiving increasing attention and clinical trials are multiplying with specific treatments. For example, with cannabidiol or CBD (a cannabis derivative) or fenfluramine in Drift syndrome, or ganaxolone in CDKL5 deficiency syndrome, just to name a few from the clinical trials our team conducted.
Holistic vision, with specific, targeted treatments, avoidance of harmful treatments, and attention to other aspects of the disease, such as cognitive or social relationships or movement problems, are all essential to helping these people and their families. Moreover, in the current context, as the COVID-19 pandemic has limited these families’ access to essential aid and treatment resources. However, the path to precision medicine is unstoppable, and many personalized diagnoses and treatments will come in the coming years.
We are talking about Dr. Angel Alido Serrano, a neurologist specializing in epilepsy at the Corachan Clinic
Web: www.epilepsiagenetica.com
Twitter: Aaledo
