Matched tissue-blood whole-exome sequencing improves detection of genetic etiologies in pediatric drug-resistant epilepsy.

ABSTRACT:

Background

Improving the diagnostic rate of genetic etiologies in pediatric drug-resistant epilepsy (DRE) is of critical importance, as it provides valuable guidance for clinical management in this challenging patient population.

Methods

In this study, matched tissue-blood whole-exome sequencing (WES) was performed on lesional brain tissue and peripheral blood from 21 patients diagnosed with DRE who had undergone resective epilepsy surgery, in order to assess its diagnostic yield.

Results

The final cohort therefore consisted of 21 pediatric patients with DRE. The patients' ages ranged from 0.2 to 10.7 years, with a mean age of 5.2 years. Eleven were male and ten were female. Matched tissue-blood WES successfully identified the genetic etiology in six pediatric patient

SUBMITTER: Ruan Y 

PROVIDER: S-EPMC12920473 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature