Dravet syndrome or mycological epileptic encephalopathy of infancy is a rare disease with a low prevalence of 1 in 20,000 births, associated with a genetic mutation in the SCN1a gene, of the two copies that are part of an individual in this gene, one has haploinsufficiency, that is, it is a mutated copy that does not work well, the affected person or carrier of the disease has epilepsy that is resistant to conventional antiepileptic drugs, being necessary in many cases the use of polypharmacy to try to cover all types of crises that can to appear, it is a disease in which there is the presence of hyperthermia, the non-control of temperature due to fever or heat that facilitate crises, photo sensitivity, emotions, stress and sleep.
Onset of the disease, from 4 months to the first year of life, in a baby born healthy, after the appearance of the first epileptic seizures, changes in learning patterns, cognitive and physical deterioration are evident.
It is necessary to carry out a genetic study at the carrier and parent level in the SCN1A GEN
If you are a neurologist and you are not familiar with Dravet Syndrome, be careful with these medications, since they block the sodium channel and worsen the disease.
In Dravet Syndrome there are other alterations related to the main diagnosis.
The current Dravet syndrome is treated with different antiepileptic drugs, not sodium channel blockers that try to reduce the intensity and frequency of epileptic seizures, but these only target the symptoms of the disease, today clinical trials are being carried out in different world research groups that go towards the genetic cause of the disease and are the hope of our carriers to have a better quality of life, including a cure, for a disease so devastating for those who suffer from it and their families.