Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy.

ABSTRACT:

Background

The purposes of this study were three-fold: (i) to determine the contribution of known genes to the causation of a broad-spectrum of pediatric drug-resistant epilepsy (DRE), (ii) to compare the diagnostic yield and cost among different next-generation sequencing (NGS) approaches, and especially (iii) to assess how NGS approaches can benefit patients by improving diagnosis and treatment efficiency.

Methods

This study enrolled 273 pediatric DRE patients with no obvious acquired etiology. Seventy-four patients underwent whole-exome sequencing (WES), 141 patients had epilepsy-related gene panel testing, and another 58 patients had clinical WES gene panel testing. We obtained these patients' seizure and hospitalization frequency by periodic follow-up phone calls and ou

SUBMITTER: Peng J 

PROVIDER: S-EPMC6436594 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature