Abstracts

Rationale: Idiopathic generalized epilepsies (IGE) are common seizure disorder with typical electro-clinical characteristics. Etiology of IGE has been presumed to be multifactorial and various genetic variations have been reported to be associated with IGE. The purpose of this study is to identify the causative genetic variations in electro-clinically diagnosed IGE patients using targeted gene sequencing based on next generation sequencing (NGS) method. Methods: We designed a customized gene panel including genes reported to be associated with IGE using public data base and article search. This customized NGS panel included 111 genes and 38genes are associated with IGE. We evaluated this panel on patients with electro-clinically diagnosed as IGE. Results: Seventy-two patients were included in this study. We identified causative variations in 28 patients (38.9%). No meaningful variations were found in 30 patients and variants of unknown significance present in 10 patients. Variations in calcium channel genes (CACNA1A, n=5; CACNA1G, n=1; CACNA1H, n=4; CACNA2D2, n=2; CACNB4, n=1) were most frequently identified. The other identified variations were as follows; CHRNB3, GRIN2A, GRM4, NRXN1, PRRT2, EFHC1, BABRB3, GABRD, SLC2A1. Conclusions: NGS-based epilepsy gene panel can contribute to provide genetic diagnosis for the patients with IGE and can be used for the prospective analysis of genotype-phenotype analysis. Large-scale genome wide association study or whole exome sequencing can disclose more causative variations in unidentified patients. Funding: NA