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

Novel genetic markers of surgical candidacy in refractory epilepsy: Whole Exome Sequencing in historical cohorts of patients - Genetics & epilepsy surgery 2 / GENES 2

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON52626

Enrollment

100

Registered

2018-04-04

Start date

2018-06-24

Completion date

Unknown

Last updated

2024-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hersenaandoeningen

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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

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

Design outcomes

Primary

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

Measure

Time frame

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

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Secondary

Measure	Time frame
n.a.	—

Countries

Netherlands

Outcome results