Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families
Most Cited Paper
in Epilepsy research and treatment
18 Months Post-Publication
Class of 2026
“Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families”
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pri.pepkio.com
Topics
Polygenic risk score · Genetic epilepsy with febrile seizures plus (GEFS+) · Monogenic epilepsy · Phenotypic heterogeneity · penetrance · febrile seizures · Developmental and epileptic encephalopathy (DEE) · GABRG2 p.Arg82Gln · SCN1B p.Cys121Trp · rare pathogenic variants · familial epilepsy · genetic modifiers · Genotype-phenotype correlation · phenotype severity grading · mixed-effect regression models · pairwise PRS difference · variant-specific effects · common polygenic risk · Phenotypic heterogeneity
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Pepkio Research Index (PRI). Topics and Trends in Most Cited Epilepsy research and treatment Papers, Class of 2026. https://pri.pepkio.com/top-papers/epilepsy-research-and-treatment/2026. Accessed 2026-08-20. Methodology Zheng Su, Tinsley Li, Thematic Shifts in Early-High-Impact Cancer Genomics and Diagnostics Research: A Bibliometric and Semantic Analysis. bioRxiv 2026.07.04.736459; doi: https://doi.org/10.64898/2026.07.04.736459