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

Review Open access Sep 2026

Real-world clinical utility of exome sequencing in pediatric drug-resistant epilepsy: Experience from a tertiary center in Thailand.

WES achieved a 39% diagnostic yield and substantial clinical utility in pediatric DRE, particularly in early-onset and channelopathy-related disorders, and support early molecular diagnosis to facilitate genotype-informed management in appropriately selected children.

Chanikhan Sattaporn, Apasri Lusawat, Panisra Sudachan et al. · Brain & development (Tokyo.... · 0 citations

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Open access Aug 2026

Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencing

Functional analysis of all 65 variants revealed that ion channel genes and neurodevelopmental genes were the most frequently affected categories, and whole-exome sequencing identified clinically relevant genetic findings in a subset of Southeast Chinese children with seizure disorders.

Shan Hong, Dan-Dan Han, Ming Qi et al. · Annals of Medicine and Surge... · 0 citations

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Open access Aug 2026

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort

The identification of novel variants enhances molecular understanding and facilitates more precise genotype-phenotype correlations, reinforcing the value of comprehensive genomic diagnostics in epilepsy management and demonstrating the clinical utility of gene panels and WES in complex phenotypes.

Renata Szalai, Á. Till, Krisztina Galimurka et al. · Human Genetics · 0 citations

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Open access Sep 2026

Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients

WES effectively detects multiple variant types providing crucial insights for precise diagnosis, management, and genetic counseling in children with complex phenotypes, providing crucial insights for precise diagnosis, management, and genetic counseling in children with complex phenotypes.

Min-Jun Zhao, Fu-Wei Li, Xiang-Peng Lu et al. · Orphanet Journal of Rare Dis... · 0 citations

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Open access Aug 2026

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

The results suggest that single‐gene causes are rare in adults with TLE, consistent with previous reports indicating a low diagnostic yield of presurgical genetic testing and further support a predominantly polygenic architecture of TLE.

Antonia P. Pirker, Margot Ernst, Matias Wagner et al. · Epilepsia Open · 0 citations

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Open access Jul 2026

Genetic testing in paediatric neurological disorders.

Exome sequencing outperforms gene panels in confirming genetic diagnoses in paediatric neurological disorders, and highlights the need for building local diagnostic genetic-testing resources.

Wafa Bani Uraba, Byoung Chan Lee, S. Mohammad et al. · Developmental Medicine & Chi... · 0 citations

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