We have already seen that childhood epilepsy is characterized by the presence of crises and the need to carry out a specific treatment that helps us improve the quality of life of these children.
We have also been able to verify the existence of a series of epileptic syndromes that present with different symptoms. Today we are going to stop to know a little more closely one of them; let's see in what is Dravet syndrome.
Dravet syndrome, who is also known by the name of Severe Myoclonic Epilepsy of Children (SMEI), and one of its main characteristics is that the location is undetermined, in addition to studying generalized and focal crises.
The origin of epileptic seizures of this syndrome is often due to febrile seizures (which can be, as we said before) generalized and / or partial, which can be repeated after a certain time or extending over time. It usually appears between four and twelve months of life, and a very special feature of Dravet Syndrome is that is resistant to treatment.
Its origin is genetic, since there is a specific mutation of the SCN1A gene, which is responsible for having the necessary information to build a protein that forms the sodium channel in neurons. In this syndrome, when there is a mutation, the functions of this protein are altered in relation to what it should carry out.
However, keep in mind that, Although there is a positive genetic diagnosis, this does not mean that a complete Dravet Syndrome develops. There are a number of different factors that have great relevance in the disease.
Thus, although we currently do not have the cure or the necessary antiepileptic pharmacological treatments, it is important to establish an early diagnosis that includes, in addition to genetic tests, a clinical diagnosis that indicates, among other things, a history of crises, types of seizure, test results performed ...
On the other hand, the one that does not currently cure does not imply that there is no treatment that is responsible for reducing seizures and improving the quality of life of children, and their families, with Dravet Syndrome.
Some of the most common drugs are valproate, phenobarbital or benzodiazepines, which help reduce, as we have said, the number of crises. But you have to be careful because there are drugs that, contrary to expectations, can make crises worse (such as carbamazepine, lamotrigine, vigabatrin or phenytoin).
In addition, it is also very important to receive a global treatment that helps to carry out an optimal evolution of the different areas of development, that is, the motor, cognitive, linguistic and social areas.
Finally, it should be noted that the evolution of the syndrome is different in each child, although there is a stabilization period at approximately four years of age. During this period, partial and myoclonic seizures may decrease or even disappear, although seizures are still present although with less intensity and frequency. The motor, cognitive or communication functions are stabilized, although the possible significant delays that may appear are still present with different severity.
As you can see, the Dravet syndrome It is a fairly rare disease in which there is still much to discover in order to help the little ones who suffer from it.
