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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 Stojiljkovic
Published 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.
Keyphrases
  • copy number
  • genome wide
  • single cell
  • gene expression
  • risk assessment
  • drug delivery
  • temporal lobe epilepsy