The International Dravet Syndrome Awareness Day took place on 23 June all over the world.

This day aims to raise the awareness of  the general and medical population to this rare disease. Dravet Syndrome is an epileptic encephalopathy that emerges in the first year of life in apparently healthy children. From 4 months of age onwards, generalized or unilateral clonic or tonic-clonic seizures begin with low fever, high recurrence and longer duration than in febrile seizures.

We should consider this diagnosis in infants who have atypical febrile seizures (many low temperature, very prolonged and unilateral seizures).

Over time, other types of seizures emerge (such as myoclonus, atypical and complex partial absences), which also occur in apyrexia and can lead to hundreds of crises daily. Concomitantly with epilepsy, other symptoms such as psychomotor development delay, ataxia and behavioural changes can take place.

It is a congenital disease, which has several genetic mutations. In 80% of patients, there are alterations in the SCN1A gene (sodium channel), but mutations are also described in other genes, such as SCN9A, GABRG2, SCN1B, CHD2, among others. However, in some cases, the diagnosis is only clinical and a concomitant molecular alteration has not yet been found.

The incidence in the population makes it a rare disease, with an estimated rate of 1 case per 22,000 births. Based on the expected incidence, the approximately 100 correctly diagnosed cases in Portugal show that the majority of patients still do not have a correct diagnosis.

The control of crises is correlated with the long-term prognosis, hence the importance for this diagnosis to be considered and studied early.

Unfortunately, we still do not have curative therapy, but we have increasingly more therapeutic options that involve the combination of several anti-epileptic drugs that improve the evolution of patients.

This diagnosis changes the average life expectancy of patients. The mortality associated with Dravet Syndrome is high, estimated at 15% until adolescence and 20% until early adulthood, normally due to SUDEP (sudden unexpected death in epilepsy), status epilepticus or accidents related to epilepsy. Although SUDEP has been described in other types of epilepsies, the risk is greater in patients with Dravet Syndrome.

In addition to the aforementioned characteristics, this condition is commonly accompanied by motor coordination disorders, inability to communicate, respiratory infections, problems with autonomous functions, autism spectrum disorders and changes in orthopaedic conditions.

Early clinical and genetic diagnosis contributes to an adequate treatment, especially for the family to live with and respond to the disease.

The lack of knowledge about this pathology, which has symptoms similar to other epilepsies, can make the diagnosis difficult. Diagnostic errors can be serious, particularly because some antiepileptic drugs are contraindicated in patients with Dravet Syndrome.