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