Hyperekplexia and paroxysmal disorders related to epilepsy [9 genes]

The underlying causes of epilepsy are multiple and heterogeneous. Some of these forms of epilepsy will have an identifiable genetic cause and more genes are known to be responsible for some of these forms of epilepsy, previously labeled as ‘idiopathic’.

The clinical manifestations of the different forms of epilepsy will provide valuable information when deciding to request a genetic study since certain epileptic syndromes will guide the selection of the most appropriate study. To this end, we have designed an offer of panels that attempt to collect the most common causes of epilepsy from a genetic point of view, classified based on the epileptic phenotype to carry out a directed diagnostic genetic study and maintaining a panel general for more imprecise semiological classifications or more complex cases where it is necessary to cover a broad differential diagnosis.

Epilepsy is a common neurological disorder with an estimated prevalence of 5-8 per 1,000 individuals, with a cumulative incidence of 3%.

Genetic tests in epilepsy have traditionally been relegated to complex or refractory patients. However, there are many cost-effective benefits to consider a genetic test among the first few tests ordered for a patient presenting with a form of epilepsy. On the other hand, epilepsy studies increasingly seek not only diagnosis but also an approach to individualized medicine in which the finding of a variant in a certain gene can provide a very valuable aid in selecting the best therapeutic strategy.

Patients with clinical suspicion of hyperekplexia.

Different studies of the diagnostic yield of genetic tests in epilepsy report the diagnostic rate to be between 15% and 25%. Indeed, the diagnostic yield varies depending on patient selection, clinical indications, age, and family history. Likely, we do not know about many genes involved in epilepsy, but it should be noted that because it is so frequent and heterogeneous, its multifactorial nature must be considered. As an example, studies of carefully selected patients have achieved diagnostic rates of up to 60-70% in early-onset epileptic encephalopathies.