Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood

Author:

Garcia‐Uzquiano Rocio1,Barcia Giulia234ORCID,Losito Emma15,Chemaly Nicole134,Kaminska Anna15ORCID,Desguerre Isabelle14,Blauwblomme Thomas46,Boddaert Nathalie47,Nabbout Rima134ORCID

Affiliation:

1. Department of Pediatric Neurology, Reference Centre for Rare Epilepsies Paris France

2. Department of Genetics Necker Enfants Malades Hospital, AP‐HP Paris France

3. Imagine Institute, Laboratory of Translational Research for Neurological Disorders INSERM UMR 1163 Paris France

4. University of Paris Cité Paris France

5. Unit of Pediatric Neurophysiology Necker Enfants Malades Hospital, AP‐HP Paris France

6. Department of Pediatric Neurosurgery Necker Enfants Malades Hospital, AP‐HP Paris France

7. Department of Pediatric Radiology Necker Enfants Malades Hospital, AP‐HP Paris France

Abstract

AbstractEpilepsy surgery may be a curative therapy for patients with drug‐resistant epilepsies when focal lesions or foci are identified. Genetic testing is not yet routinely included in many presurgical evaluation programs although recent evidence support that finding a germline genetic mutation could help to better delineate the patient candidacy to surgery and provide valuable information on the expected surgery outcome. In this study, we report nine patients presenting drug‐resistant focal epilepsy enrolled in presurgical evaluation. We show how the identification of genetic pathogenic variant in epilepsy known genes led to the interruption of the presurgical work‐up and ruled out surgery in 7 of them. We observed that the co‐existence of some recurrent clinical characteristics as early seizures' onset, frequent precipitating factors including fever, and developmental delay or intellectual disability may be useful markers for germline genetic pathogenic variants. In this group, genetic assessment should be mandatory during presurgical work up, mainly in patients with negative magnetic resonance imaging (MRI) or doubtful structural lesions. The integration of next generation targeted sequencing into the presurgical evaluation can improve the selection of candidates for resective surgery and fosters a personalized medicine approach with a better outcome.Plaine Language AbstractGenetic testing is not yet systematically included in the pre‐surgical assessment of patients with drug‐resistant focal epilepsies. In this study, through the description of nine patients, we underline how the integration of genomics into the presurgical work up can help in evaluating the patient candidacy to surgery and provide valuable information on expected surgery outcome.

Publisher

Wiley

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