Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients
| dc.contributor.author | Gun-Bilgic, D | |
| dc.contributor.author | Polat, M | |
| dc.date.accessioned | 2024-07-18T11:40:10Z | |
| dc.date.available | 2024-07-18T11:40:10Z | |
| dc.description.abstract | Background: 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 (R) 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 findings with the literature. | |
| dc.identifier.issn | 1433-6510 | |
| dc.identifier.uri | http://akademikarsiv.cbu.edu.tr:4000/handle/123456789/2215 | |
| dc.language.iso | English | |
| dc.publisher | CLIN LAB PUBL | |
| dc.subject | MECP2 MUTATIONS | |
| dc.subject | RETT-SYNDROME | |
| dc.subject | PHENOTYPES | |
| dc.title | Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients | |
| dc.type | Article |