Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy

We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery evaluation over a 5-year period. We extracted and an...

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Bibliographic Details
Published in:Journal of neurology 2024-05, Vol.271 (5), p.2503-2508
Main Authors: Alsubhi, Sarah, Berrahmoune, Saoussen, Dudley, Roy W. R., Dufresne, David, Simard Tremblay, Elisabeth, Srour, Myriam, Myers, Kenneth A.
Format: Article
Language:English
Subjects:
Adolescent
Child
Child, Preschool
Chromosome 20
Diagnosis
Drug resistance
Drug Resistant Epilepsy - diagnostic imaging
Drug Resistant Epilepsy - genetics
Drug Resistant Epilepsy - surgery
Electroencephalography
Epilepsies, Partial - diagnosis
Epilepsies, Partial - diagnostic imaging
Epilepsies, Partial - genetics
Epilepsies, Partial - surgery
Epilepsy
Female
Genetic screening
Genetic Testing
Humans
Infant
Magnetic Resonance Imaging
Male
Medicine
Medicine & Public Health
Neuroimaging
Neurology
Neuroradiology
Neurosciences
Original Communication
Patients
Pediatrics
Preoperative Care
Retrospective Studies
Sodium channels (voltage-gated)
Surgery
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Summary:We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery evaluation over a 5-year period. We extracted and analyzed results of genetic testing as well as clinical, EEG, and neuroimaging data. Of 125 patients referred for epilepsy surgical evaluation, 86 (69%) had some form of genetic testing. Of these, 18 (21%) had a pathogenic or likely pathogenic variant identified. Genes affected included NPRL3 (3 patients, all related), TSC2 (3 patients), KCNH1 , CHRNA4 , SPTAN1 , DEPDC5 , SCN2A , ARX , SCN1A , DLG4 , and ST5 . One patient had ring chromosome 20, one a 7.17p12 duplication, and one a 15q13 deletion. In six patients, suspected epileptogenic lesions were identified on brain MRI that were thought to be unrelated to the genetic finding. A specific medical therapy choice was allowed due to genetic diagnosis in three patients who did not undergo surgery. Obtaining a molecular diagnosis may dramatically alter management in pediatric patients with drug-resistant focal epilepsy. Genetic testing should be incorporated as part of standard investigations in the pre-surgical work-up of pediatric patients with drug-resistant focal epilepsy.
ISSN:0340-5354
1432-1459
1432-1459
DOI:10.1007/s00415-023-12174-3