부산대학교 도서관

Introduction: Epilepsy is a neurological disorder characterized by recurrent seizures due to increased neuronal and electrical activity. According to the World Health Organization, approximately 5 million people are diagnosed with epilepsy for the first time each year. While idiopathic epilepsy has no identifiable underlying cause, genetic factors play a role in many cases. Advances in genetic science have led to the identification of many genetic syndromes and single-gene mutations associated with epilepsy. Many syndromes associated with or caused by chromosomal aneuploidies, copy number variations, and single-gene mutations have been reported in association with epilepsy. This study aimed to evaluate the genetic syndromes detected in patients with epilepsy. Methods: We retrospectively analyzed the genetic test results of 230 patients with epilepsy who presented to our department between January 2016 and January 2023. Results:Abnormalities were detected in 30 patients (13%). Chromosomal anomalies were found in four patients, microdeletion syndrome in 14 patients, and single-gene mutations in 12 patients. The most common single-gene mutations were in the ADGRV1, ARSA, ATN1, COL4A1, CPA6, KCNQ, MACF1, PACS1, PIGQ, PRRT2, SLC19A2, and STXBP1 genes. Conclusion: Genetic factors play a significant role in the development of epilepsy. Genetic testing can be helpful in identifying the underlying genetic cause in syndromic and non-syndromic cases, which can aid in diagnosis, prognosis, and counseling. [ABSTRACT FROM AUTHOR]