BACKGROUND
- Whole Genome Sequencing (WGS) is a comprehensive test that investigates a large number of genes and multiple variant types.
- WGS is increasingly being adopted as a first-tier diagnostic tool for various neurodevelopmental disorders per guidelines from American College of Medical Genetics and Genomics (ACMG).
- However, there is limited information on the utility of WGS for epilepsy disorders.
- In this study, we reviewed the diagnostic yield of WGS for patients presenting with epilepsy.
