Atli, EnginGurkan, HakanGuldiken, BaburhanEker, DamlaYalcintepe, SinemDemir, SelmaAtli, Emine Ikbal2024-06-122024-06-1220232146-31232146-3131https://doi.org/10.4274/balkanmedj.galenos.2022.2022-7-55https://hdl.handle.net/20.500.14551/25193Background: Idiopathic generalized epilepsy is the most common group of epilepsy disorders in children and adolescents. Various types of genetic abnormality were identified among the hereditary factors that explain epilepsy. Aims: To determine the variations in the etiopathogenesis, treatment protocol planning, and prognosis of idiopathic generalized epilepsy using the next-generation sequencing method.Study Design: A cross-sectional study. Methods: This study included 32 patients with idiopathic generalized epilepsy. Genomic DNA was obtained from peripheral venous blood samples taken from the patients. A total of 18 genes encoding ion channel subunits that are involved in monogenic disorders and are associated with idiopathic generalized epilepsy were included. The targeted custom next-generation sequencing panel was designed to cover all coding exons and all exon/intron splice site regions of 18 genes.Results: We detected 9 (28%) variations, including 1 likely pathogenic (a variant in the SCN1A gene) and 8 of unknown clinical significance (2 in the CLCN2 genes, GABBR2, SCN1B, SLC2A1, SLC4A10 genes, and 2 in the TBC1D24 gene).Conclusion: Study results should be supported by functional advanced studies, with increased existing knowledge in the relevant variations.en10.4274/balkanmedj.galenos.2022.2022-7-55info:eu-repo/semantics/openAccessMutationsVariantsArticle4011320N/AWOS:0009251629000032-s2.0-8514704640936374051Q3