Frequency of genetic variants associated with epilepsy in pediatric patients

Introduction: Epilepsy in pediatric patients is a relatively frequent condition in our population, which may have genetic origin. In this study, we determined the frequency of genetic variants associated with epilepsy in patients of the medical genetics service of the Dr. Hugo Mendoza Pediatric Hospital in the period August 2018 - August 2021. Results: In a sample of 154 patients, a total of 107 cases, the most frequent variants associated with epilepsy were identified and characterized according to age, sex, inheritance pattern and zygosity. The pathologies associated with each variant of the study participants were also identified. Conclusion: The most frequent age at which a genetic variant was found was 3 years. The female sex was identified as the most frequent, and the autosomal dominant inheritance pattern presented the highest number of cases, followed by the autosomal recessive pattern, and finally the X-linked patterns; dominant and recessive.