Epilepsy is a common neurological disorder characterized by recurrent seizures. It has an estimated prevalence of about 0.08% and a lifetime cumulative incidence of about 3%.

Approximately 60% of epilepsy cases have no cause other than a genetic predisposition, while the rest are due to a major acquired cause  (See pie chart).

However, the probability of a genetic cause of epilepsy is often underestimated in routine clinical practice. Thus, genetic testing can be useful in order to facilitate appropriate counseling. In some patients, it can also help guiding the treatment and predict the risk of being affected for asymptomatic relatives

[More information].

Catégorie :


Clinical Indication

  • Individuals with a confirmed diagnosis of epilepsy and/or suspected genetic cause of epilepsy (epileptic seizures occurring at a young age, family history, etc.)
  • Relatives of an index case tested positive for a mutation-causing disease

Test Benefits & Risk Management

Benefits of this test are:

  • The diagnosis confirmation of a specific genetic syndrome of epilepsy
  • The diagnosis refinement, e.g. determination of an unequivocal genetic cause in case of inconclusive clinical picture / atypical phenotype, discrimination between syndromic and non-syndromic form of epilepsy, etc.
  • Treatment guidance and targeted management
  • The subsequent identification of affected relatives in families where a disease causing mutation has already been found. This would allow an earlier management of at-risk family members.

Risk and treatment management includes, but is not limited to [6]:

For ALDH7A1 related pyridoxine-dependent epilepsy and PNPO related pyridoxamine 5′-phosphate oxidase deficiency: