Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.
Marina AndjelkovicKristel KlaassenAnita SkakicIrena MarjanovicRuzica KravljanacMaja DjordjevicBiljana Vucetic TadicBozica KecmanSonja PavlovicMaja StojiljkovicPublished in: Molecular diagnosis & therapy (2024)
Described novel variants will contribute to a better understanding of the European genetic landscape, while insights into the genotype-phenotype correlation will contribute to a better understanding of childhood epilepsies worldwide. Given the expansion of molecular-based approaches, each newly identified genetic variant could become a potential therapeutic target.