Study of Genetic Variants in Mexican Pediatric Patients with Drug-Responsive and Drug-Resistant Epilepsy
Abstract number :
1.411
Submission category :
2. Translational Research / 2C. Biomarkers
Year :
2022
Submission ID :
2232862
Source :
www.aesnet.org
Presentation date :
12/3/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:28 AM
Authors :
Iris Feria-Romero, PhD – Instituto Mexicano del Seguro Social; Sandra Orozco-Suárez, PhD – Senior Researcher, UIMEN, Instituto Mexicano del Seguro Social; Araceli Reyes-Cuayahuit, Neuropediatrician – Non-Family Physician, Pediatric Neurology, Instituto Mexicano del Seguro Social; Justina Sosa-Maldonado, Neuropediatrician – Neuropediatrician, Hospital Los Ángeles; Darío Reyes-Mares, Neuropediatrician – Chief of Department, Pediatric Neurology, Instituto Mexicano del Seguro Social; Israel Grijalva-Otero, Research Professor – Head of research unit, UIMEN, Instituto Mexicano del Seguro Social
Rationale: Among the three groups of proteins underlying the hypothesized mechanisms of drug-resistant epilepsy (metabolizing enzymes, therapeutic targets and transporter proteins), genetic variants that characterize Mexican pediatric patients with drug-responsive and/or drug-resistant epilepsy were identified.
Methods: Retrospective cohort study with follow-up of ≥ 5years to pediatric patients (0-17 years) with epilepsy (32 drug-responsive (CTR) and 23 drug-resistant (DRE), both sexes). Next-generation sequencing (NGS) used genomic DNA obtained from peripheral blood to analyze 10 genes related to the hypothesis of the mechanisms of drug-resistant epilepsy. The genetic variants obtained were analyzed with Fisher's exact test, odds ratio (CI 95%) and p value < 0.05 was significant.
Translational Research