ovel genetic markers of surgical candidacy in refractory epilepsy: Whole Exome Sequencing in historical cohorts of patients

Recruiting

Conditions: Hersenaandoeningen
Epilepsie
Focal epilepsy
Epilepsy

Registration Number: NL-OMON52626

Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 100

Inclusion Criteria

Cohort I
o The patient has a history of refractory focal epilepsy
o The patient was operated in one of the participating centers, was MRI and
pathology negative and had poor surgical outcome (not seizure free), or: the
patient underwent presurgical evaluation, was MRI and SEEG negative and was
rejected for surgery
o The patients* parents are both available, give consent and are willing to
participate in the study (trio WES, thus DNA of parents necessary for
validation of variants), Cohort II
o The patient has a history of refractory focal epilepsy
o The patient was operated in one of the participating centers, was
MRI-negative and pathology-negative and had good surgical outcome (seizure free)
o The patients* parents are both available, give consent and are willing to
participate in the study (trio WES, thus DNA of parents necessary for
validation of variants)

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.
o The patient*s parents have a condition (e.g. focal epilepsy) or known genetic
disorder that that is related to the patient*s epilepsy

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>We will select all de novo mutations that are predicted to be pathogenic and<br /><br>causally related to the epilepsy and are absent in available control databases.<br /><br>Surgical outcome is collected from the databases and electronic medical patient<br /><br>files. Genetic findings will be compared between both groups, and related with<br /><br>seizure outcome. Genetic biomarkers for seizure outcome will be determined,<br /><br>functionally validated and rapidly transferred to the clinical implementation<br /><br>phase (separate application).</p><br>

Secondary Outcome Measures