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Review

Whole-exome sequencing in pediatric drug-resistant epilepsy: diagnostic yield and clinical impact in a resource-limited setting

E. S. Herini A. Triono K. Iskandar A. P. Nugrahanto Rais Aliffandy Damroni K. H. Mooiindie Joshua Timoti
Aug 2026 · Neurogenetics · Vol 27 · 0 citations · 34 references
Medicine

TL;DR

WES can yield a definitive genetic diagnosis in a subset of patients, enabling individualized management, facilitating genetic counseling, and reducing the need for further diagnostic investigations.

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