Gun-Bilgic D.Polat M.2024-07-222024-07-22202214336510http://akademikarsiv.cbu.edu.tr:4000/handle/123456789/12737Background: Epilepsy is a neurological disease that is mostly caused by genetic factors. The genetic diagnosis of patients in a pediatric epilepsy cohort was provided. Methods: After phenotypic characterization, a 48-gene Next Generation Sequencing panel was performed in 110 Turkish children with epilepsy. The variants were called and annotated using the QIAGEN Ingenuity® Variant Analysis software. Results: Of those carrying pathogenic mutations, two patients had mutations in the SCN1A gene and two patients in the TSC2 gene; other patients had mutations in the SCN1B, GRIN2B, KCNQ2, PCDH19, CHRNA2, and MECP2 genes. In total, nine out of 10 patients had pathogenic variants that were not previously reported. Conclusions: The genotype-phenotype correlations of these variants were discussed by comparing the clinical find-ings with the literature. © 2022 Verlag Klinisches Labor GmbH. All rights reserved.EnglishCadherinsChildCohort StudiesEpilepsyGenetic Association StudiesHigh-Throughput Nucleotide SequencingHumansMutationPhenotypeProtocadherinsmethyl CpG binding protein 2n methyl dextro aspartic acid receptor 2Bpotassium channel KCNQ2sodium channel Nav1.1tuberinvoltage gated sodium channel beta 1 subunitcadherinPCDH19 protein, humanadolescentalleleArticlechildchrna2 genecohort analysisepilepsyepileptic patientfemalegenegene mutationgenetic variabilityhigh throughput sequencinghumanmajor clinical studymalemotor retardationpcdh19 genephenotypepreschool childschool childepilepsygenetic association studygeneticshigh throughput sequencingmutationArticle10.7754/Clin.Lab.2021.210939