epilepsy seizures
Conditions
Interventions
None listed
Sponsors
Epilepsiecentrum Kempenhaeghe
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Patients with a familial history of epilepsy, with multiple (at least 4) family members affected 2. Patients with a severe form of epilepsy with onset in the first year of life in which no acquired cause can be detected. 3. patients with a combination of epilepsy, mental retardation and dysmorphia (=contiguous gene syndrome, probably caused by deletion/duplication of multiple genes and detectable by CGH) 4. Patients on a ketogenic diet with epilepsy of unknown origin Theoretically there are no age restrictions. In case of severe epilepsy with early onset (cfr.2), cases with neonatal onset will also be included, but as DNA diagnostics in a genetic research setting only will be done after all other possible causes are excluded, inclusion in this study in actual practice will only be done after 2 months of life.
Exclusion criteria
Exclusion criteria: Patients in which a acquired cause of epilepsy is suspected (for example perinatal brain damage, lesions visible on MRI,...)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| In this project we want to 1) describe new genes or loci 2) identify mutations in known epilepsy genes, but in a broader population than the one in which the gene was originally described. | — |
Countries
Netherlands
Outcome results
None listed