Next-Generation Sequencing May Improve Pediatric Epilepsy Tx

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In children with drug-resistant epilepsy, NGS can help establish diagnosis, improve treatment efficacy.
In children with drug-resistant epilepsy, NGS can help establish diagnosis, improve treatment efficacy.

HealthDay News — Next-generation sequencing (NGS) can improve treatment efficacy and reduce hospitalization in children with drug-resistant epilepsy (DRE), according to a study published online June 22 in CNS Neuroscience & Therapeutics.

Jing Peng, PhD, from Central South University in China, and colleagues conducted genetic testing on 273 pediatric DRE patients with no obvious acquired etiology; 74 underwent whole-exome sequencing (WES), 141 had epilepsy-related gene panel testing, and 58 had clinical WES gene panel testing. Frequency of seizures, outpatient visits, and hospitalization was also assessed. 

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The researchers found that a genetic diagnosis was made in 86 patients (31.5%; 93 likely disease-causing mutations in 33 genes). By testing type, detection rates were 32.6% for the epilepsy-related gene panel, 44.8% for the clinical WES gene panel, and 17.3% for WES. Also, 34 patients accepted therapy based on their mutant genes, after which 52.9% became seizure-free and 38.2% experienced seizure reduction. Hospitalization incidents were significantly lower for patients after testing than before regardless of positive or negative genetic results.

"These results offer further proof that NGS approaches represent powerful tools for establishing a definitive diagnosis," conclude the authors.

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