Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.
Sarah AlsubhiSaoussen BerrahmouneRoy W R DudleyDavid DufresneElisabeth Simard TremblayMyriam SrourKenneth A MyersPublished in: Journal of neurology (2024)
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.
Keyphrases
- drug resistant
- end stage renal disease
- multidrug resistant
- acinetobacter baumannii
- newly diagnosed
- ejection fraction
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- genome wide
- stem cells
- machine learning
- acute coronary syndrome
- dna methylation
- mesenchymal stem cells
- copy number
- percutaneous coronary intervention
- artificial intelligence
- subarachnoid hemorrhage
- transcription factor
- pulmonary embolism