Geneting testing: Epilepsy panel

Neurology – Epilepsy panel

Live better, live longer

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.

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.

How does it work ?

Stage 1: Patient identification
– Discussion of personnal and family history
Eplanation of genetic testing options
Stage 2: Sample submission
– The patient’s sample and necessary paperwork are sent to the laboratory
Stage 3: Genetic testing – At the laboratory, genetic testing for most genes includes next-generation sequencing and/or exon aray analysis
Stage 4: Genetic test results –
Contains information on the results of the genetic test and available medical management options.
The final report is sent to the ordering Health and Prevention Center specialist
Stage 5: Post-test discussion – Health and Prevention Center specialist discusses the test resutls, medical management options, and implication for family members with the patient

To whom it is recommended?

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

Why choose this assay?

Test Benefits

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 Management

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

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

Treatment

Pyridoxine should be used

Treatment

Retigabine (or Ezogabine) specifically targets and modulates the opening of the involved potassium channels. However its safety and efficacy in children still need to be assessed.

Treatment

Carbamazepine or oxcarbazepine might be effective

Management

Patients should be monitored for other neurological manifestations

For SCN1A related Dravet syndrome / GEFSP2 / familial hemiplegic migraine:

Treatment

Some sodium channel agents such as phenytoin, carbamazepin and lamotrigine should be avoided

Management

Monitoring and management of progressive changes in gait
Awareness of risk of sudden unexplained death in epilepsy

For SLC2A1 related GLUT1 deficiency syndrome:

Treatment

Ketogenic diet should be tried

Management

Patients should be monitored for movement disorder

What is investigated?

Panel composition

Cost: CHF 5’700

Technical Details

Methodology

Targeted capture of all coding exons and exon-intron boundaries followed by NGS.

TAT

5-6 weeks in average. Urgent testing is available upon request.