Hersenaandoeningen
Conditions
Interventions
None listed
Sponsors
Neurologie
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Cohort I In order to be eligible to participate in this study, a subject must meet all of the following criteria: o The patient enters the presurgical evaluation program in one of the participating centers o No age limit o Patients and/or parents/legal representative are willing and able to give informed consent for participation in the study. o MRI-brain shows no abnormalities that are likely to be causative for the epilepsy (*MRI-negative*: As determined by the local neuroradiologist and MD team, independent of the used MR imaging protocol, field strength, or post-processing.);Cohort II o The patient entered the presurgical evaluation program in in the UMC Utrecht o No age limit o Patients and/or parents/legal representative are willing and able to give informed consent for participation in the study o The patient underwent surgery in the UMC Utrecht for drug-resistant FE and had MCD, GNT, or negative pathology
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: o No age exclusion criteria o Known genetic disorders at entry that are directly related to the patient*s epilepsy; genetic disorders not related to the epilepsy are not a reason for exclusion, however such conditions will be noted in the participant*s research file.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Cohort I The genetic results from each individual patient will be provided to the multidisciplinary epilepsy surgery teams (MDT) at the participating institutes. Importantly, the decision whether * and if so, how * individual patients* results will guide decision making will be left to the discretion of the MDT. With a descriptive analysis, we will investigate how the genetic findings influence the presurgical diagnostic trajectory and decision-making. We will compare patients with and without genetic diagnosis on: o process indicators o duration of presurgical evaluation until decision o number of ancillary investigations performed o need for and yield of invasive procedures o number of patients proceeding to resective surgery and those being rejected from surgery o complications of invasive procedures o postoperative seizure outcome o classified according to Engel*s criteria (seizure freedom defined by Engel 1A, at 1 year after surgery), or: o freedom of intractable focal seizures in case of targeted palliative therapy We will ask the MD teams if, and how, the genetic results have influenced decision making. This prospective cohort (patients with and without genetic findings causative for the epilepsy) will be compared on same endpoints (process indicators and seizure outcome). Cohort II Integration of genotype, phenotype and outcome data in a final database with pathology findings of 200 resected tissue samples and genotype of buccal swab samples of patients who underwent epilepsy surgery. Identification of genetic risk factors for seizure recurrence and (in case of glioneuronal tumor) tumor recurrence or growth. | — |
Secondary
| Measure | Time frame |
|---|---|
| n.a. | — |
Countries
Netherlands
Outcome results
None listed