ArticleInternational journal of molecular sciences2026
Precision Medicine in Epilepsy: Diagnostic Yield by Next-Generation Sequencing and Genotype-Phenotype Findings in a Romanian Cohort.
Article in International journal of molecular sciences, 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
Epilepsy ranks among the most prevalent neurological disorders globally, with a substantial proportion of cases, particularly in pediatric populations, attributed to genetic etiologies. This study provides the first molecular characterization of suspected genetic epilepsy in a pediatric cohort from the Moldova region of Romania. Following the exclusion of 124 patients with secondary acquired or structural causes from an initial cohort of 159, we enrolled 35 individuals with a high suspicion of primary genetic epilepsy, who underwent targeted gene panel testing or whole-exome sequencing (WES). Pathogenic (P) or likely pathogenic (LP) variants were identified in 13 patients (37.1%); variants of uncertain significance (VUSs) were identified in another 13 patients (37.1%), comprising 15 distinct VUSs; and negative results were observed in the remaining 9 patients (25.7%). Genes regulating ion channels and synaptic signaling, notably
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