*Corresponding Author: Faruk Incecik, Department of Pediatric Neurology, Balcalı Hospital and Clinics, Deptartment of Medical Genetics and Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center, Adana, Turkey.

Received: February 13, 2024; Published: February 21, 2024

Abstract

Objective: Early-onset epileptic encephalopathy (EOEE) is a grouping comprising many conditions that may severely disable children with developmental delay and severe epilepsy. They have variable genetic heterogeneity. In recent years, genetic causes have started to be detected more frequently in the ethology of EOEE. We aimed to determine the genetic and phenotypic relationship in eoee patients with the next-generation

Methods: Genetic studies were performed with a next-generation sequencing panel from 37 patients diagnosed with EOEE. For the study, the causal variants (pathogenic, likely pathogenic and VUS) detected in the patients were examined. The phenotype-genotype relationship of the patients was evaluated.

Results: No mutation could be detected in 10 (27%) of 37 patients. Pathogenic variant was detected in 5 (13.5%) patients, likely pathogen in 5 (13.5%) and VUS in 7 (19%) patients. Changes of unknown clinical significance were detected in 10 patients. In total, the causative variant (pathogenic, likely pathogenic and VUS) was detected in 17 (45.9%) patients. In this study, the diagnostic value determined by known gene panel analysis was 27% (P, OP) and 45.9% (P, OP, and VUS).

Conclusions: The diagnostic value found in our study was 27% (P, OP) and 45.9% (P, OP and VUS), which was consistent with recent studies using targeted gene panel analyzes in the diagnosis of patients with early-onset epileptic encephalopathy. The targeted gene panel is seen as a practical diagnostic tool for patients with EOEE, as it enables to establish genotype-phenotype correlations and guides treatment.

Keywords: Epileptic Encephalopathy; Genetic; Next Generation Sequencing

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Citation

Citation: Faruk Incecik., et al. “Clinical and Genetic Evaluation of Epileptic Encephalopathy Cases in Turkey: A Single Centre Experience".Acta Scientific Paediatrics 7.3 (2024): 17-24.

Copyright

Copyright: © 2024 Faruk Incecik., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.