ArticleEpileptic disorders : international epilepsy journal with videotape2026
Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center.
Article in Epileptic disorders : international epilepsy journal with videotape, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveTo evaluate the diagnostic utility and genetic spectrum of next-generation sequencing (NGS) in a large, well-phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology.
methodsBetween January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole-exome sequencing (WES; n = 104) or clinical exome sequencing (CES; n = 146). Variants were interpreted according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Clinical data, including seizure semiology, neuroimaging, EEG findings, and treatment response, were retrospectively reviewed.
resultsA definitive molecular diagnosis (pathogenic or likely pathogenic variants) was established in 89 patients (89/250, 35.6%). Including variants of uncertain significance (VUS) with strong phenotypic correlation raised the diagnostic yield to 57.6% (144/250). The genetic landscape was highly heterogeneous, involving 59 distinct genes. SCN1A was the most frequently implicated gene (n = 11, 12.4% of diagnosed cases), followed by MECP2 and PRRT2 (n = 5 each). Notably, the recurrent PRRT2 c.649dup (p.Arg217Profs*8) frameshift variant was identified in four unrelated Turkish families. Inheritance patterns included autosomal dominant (56/89, 63%), autosomal recessive (20/89, 22%), and X-linked (13/89, 15%). Diagnostic yields were comparable between WES (38/104, 36.5%) and CES (51/146, 35%) (p = 0.97). Neonatal-onset epilepsy (p = 0.03) and the presence of autistic features (p = 0.04) were significantly associated with a positive genetic diagnosis.
conclusionOur study confirms NGS as a first-tier diagnostic tool in pediatric epilepsy, revealing a distinctive genetic architecture enriched with novel and population-specific variants. These findings emphasize (1) a high diagnostic yield (∼36%) supporting first-tier use of NGS; (2) a distinctive genetic architecture characterized by recurrent PRRT2 variants and an elevated burden of autosomal recessive disorders, likely reflecting regional consanguinity patterns; and (3) a phenotype-driven framework for prioritizing VUS re-evaluation in clinical neurology practice. Such data from underrepresented populations are crucial for global genomic databases and directly inform precision medicine and genetic counseling.
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