Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

ABSTRACT:

Importance

Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, and counseling.

Objective

To delineate the genetic landscape of pediatric epilepsy and clinical utility of genetic diagnoses for patients with epilepsy.

Design, setting, and participants

This cohort study used phenotypic data from medical records and treating clinicians at a pediatric hospital to identify patients with unexplained pediatric-onset epilepsy. Exome sequencing was performed for 522 patients and available biological parents, and sequencing data were analyzed for single nucleotide variants (SNVs) and copy number variants (CNVs). Variant pathogenicity was assessed, patients were provided with

SUBMITTER: Koh HY 

PROVIDER: S-EPMC10359957 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature