Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.

ABSTRACT:

Objective

The objective of this study is to report the results of the genetic analysis in a large and well-characterized population with pediatric-onset epilepsies and to identify those who could benefit from precision medicine treatments.

Methods

In this retrospective observational study, we consecutively recruited patients with pediatric-onset epilepsy observed at a tertiary neurological center over a time span of 7 years, collecting clinical and laboratory findings. Following in-depth diagnostic process to exclude possible structural and metabolic causes of the disease, patients with a suspected genetically determined etiology underwent next-generation sequencing (NGS) screening with panels for the analysis of target genes causative of epilepsy.

Results

We detected

SUBMITTER: Castellotti B 

PROVIDER: S-EPMC11450606 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature