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- Title
Clinical Exome Sequencing in Syndromic Epilepsy Patients Evaluation of Analysis Results.
- Authors
Polat, Hamza; Geçkinli, Bilgen Bilge
- Abstract
Introduction: Complex inheritance mostly plays a role in the development of epilepsy. In complex inheritance, the interaction of genes and environmental factors is seen. In our study, it was aimed to reveal clinical features of syndromic epilepsy patients, advantages-disadvantages of the clinical exome sequencing (CES), and diagnostic availability, to evaluate the relationship between the obtained molecular data and clinical features, and to provide genetic counseling to the families with the case whose molecular etiology was solved and the disease and variant. Methods: A total of 146 patients, 70 men, and 76 women, who were diagnosed with epilepsy and had additional clinical findings such as syndromic appearance and mental retardation, were included in the study. Genes associated with syndromic epilepsy were analyzed using the CES kit containing 4,496 genes, using current databases with next generation sequencing (NGS) method. Results:In our study, 17 (12%) pathogenic variants (P) with known clinical significance, 16 (11%) potentially pathogenic (LP) and 6 (3%) variant unknown significance (VUS) variants were detected in 38 (27%) individuals. Of the variants, 8 (5%) were in genes associated with encephalopathies, 6 (3%) were in genes associated with neurocutaneous diseases, 4 (2%) were in genes associated with metabolic pathways, and 21 (14%) variants are in genes that may cause rare syndromic epilepsy. In our study, 18 variants that can be classified as P, LP, or VUS were not reported in databases and were brought to the literature. Conclusion: Genetic etiology was clarified and genotype-phenotype correlation was discussed in 38 patients with syndromic epilepsy. All these findings revealed the importance of NGS applications in elucidating the genetic mechanisms involved in the formation of epilepsy.
- Subjects
EPILEPSY; PEOPLE with epilepsy; NUCLEOTIDE sequencing; GENETIC counseling; FAMILY counseling; INTELLECTUAL disabilities
- Publication
Gazi Medical Journal, 2024, Vol 35, p44
- ISSN
1300-056X
- Publication type
Article