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Article

Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.

Molecular diagnosis & therapy - 1 Sept 2024

Andjelkovic Marina, Klaassen Kristel, Skakic Anita, Marjanovic Irena, Kravljanac Ruzica, Djordjevic Maja, Vucetic Tadic Biljana, Kecman Bozica, Pavlovic Sonja, Stojiljkovic Maja

Abstract excerpt

BACKGROUND: Childhood epilepsies are caused by heterogeneous underlying disorders where approximately 40% of the origins of epilepsy can be attributed to genetic factors. The application of next-generation sequencing (NGS) has revolutionized molecular diagnostics and has enabled the identification of disease-causing genes and variants in childhood epilepsies. The objective of this study was to use NGS to identify...

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Identifiers

PMID: 39003674
DOI: 10.1007/s40291-024-00720-2
PMCID: PMC11349789

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