Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.

ABSTRACT:

Background

We aimed to understand the genetic etiology in children presenting with epilepsy and/or developmental delay by using next-generation sequencing (NGS).

Materials and methods

We included children presenting to our pediatric neurology clinic with a diagnosis of epilepsy and/or developmental delay between January 2019 and December 2021. We evaluated the patients using the NGS equipment in our genetic laboratory.

Results

In total, 90 patients were included in the study. Twenty (34.4%) out of 58 patients who had undergone whole-exome sequencing (WES) had pathogenic or likely pathogenic (P/LP) variants and 11 (18.9%) had variants of unknown significance (VUS). Five (41.6%) out of 12 patients who had undergone whole-genome sequencing had P/LP variants and 5 (41.6%)

SUBMITTER: Kava H 

PROVIDER: S-EPMC11904636 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature