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Holistic Exome-Based Genetic Testing in Adults With Epilepsy

17 Apr 2025

Abstract excerpt

Background and Objectives: Exome sequencing (ES) is increasingly used in the diagnostic workup of epilepsies. While its utility has been extensively demonstrated in children, its role in adults remains to be defined. In this study, we evaluate the outcomes of a holistic exome-based approach in adults with epilepsy. Methods: We included 106 adults with epilepsy and a presumed genetic etiology between January 2015...

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PMID: 40343077
DOI: 10.1212/nxg.0000000000200260

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