Whole exome analysis in hot water epilepsy

Hot Water Epilepsy (HWE) is a rare type of epilepsy characterized by seizures resulting from contact with hot water, usually during the bathing. The number of genetic studies to explain the etiopathogenesis of SSE is limited at the present time. In addition, the importance of rare variants in such complex diseases is being understood day by day with several studies. Therefore, this study aims to find rare variants that will contribute to elucidating the etiopathogenesis of HWE. Within the scope of the thesis, bioinformatics analysis was performed with the data of 10 independent HWE individuals, whose whole exome sequencing (WES) and SNP array sequencing were performed by the Epi25 consortium. During the analysis process, the raw WES data was passed through our in-house pipeline and subjected to various filtering processes, and novel missense variants were detected from the raw data. After that, functional annotation analysis was performed using WES data and the cumulative effects of the genes in which the variants were found in the biological system were determined. Finally, the copy number variations on the genome were examined by performing CNV analysis with SNP data. As a result of the WES analysis, 12 novel variants that may be associated with the disease were identified in the SLC1A2, KCNB1, UBA5, ADAM22, PIGP, SCN2A, SCN9A, RELN, ABCA2, CACNA1A, and DIAPH1 genes. Gene clusters that are used in functional annotation analysis have been associated with cellular processes, signal transduction, substance transport, etc. No significant copy number variations were detected in the CNV analysis results.