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

Key Points

• Increased diagnostic yield supports finding critical genetic variants in pediatric drug-resistant epilepsy.
• Matched tissue-blood whole-exome sequencing enhances detection capabilities over blood-only testing, revealing missed variants.
• Assessment using matched tissue-blood WES highlights its vital role in precision diagnosis and therapy for epilepsy cases.
• May enable more accurate diagnosis and tailored treatment approaches for children with unexplained drug-resistant epilepsy cases.

Abstract