Article
Genome-Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Oct 2025
Mastrangelo Mario, Petrucci Simona, Lentini Giuliana, Fabiani Marco, Piane Maria, Pisani Francesco
Abstract excerpt
The research of single gene-related disorders or pathogenic copy-number variations (CNVs) has given a significant impetus to the shift from a diagnostic work-up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric-onset epilepsies and in developmental and epileptic encephalopathies. Genome-wide association studies (GWAS) have identified various loci of susceptibility for...
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