Genetic Testing in Patients With Epilepsy May Impact Treatments and Improve Outcomes

It was not so long ago that genetic testing was considered a research or academic endeavor. However, the increasing availability of next-generation sequencing in the evaluation of patients with epilepsy is well positioned to not only have immediate impact on patient treatment in the epilepsy clinic...

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Veröffentlicht in:Archives of neurology (Chicago) 2022-12, Vol.79 (12), p.1227-1228
1. Verfasser: Sullivan, Joseph E
Format: Artikel
Sprache:eng
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Zusammenfassung:It was not so long ago that genetic testing was considered a research or academic endeavor. However, the increasing availability of next-generation sequencing in the evaluation of patients with epilepsy is well positioned to not only have immediate impact on patient treatment in the epilepsy clinic and improve outcomes, but also sets the stage for the development of a host of precision medicine-based therapies. These powerful genetic discoveries will likely lead to a shift in the nosology of epilepsy diagnoses, thereby calling on clinicians to pay even closer attention to characterizing underlying phenotypes. Furthermore, the utility of a precise genetic characterization is not restricted to young patients with early-onset epilepsy, as even adults may benefit from a more precise diagnosis leading to changes in underlying treatment.
ISSN:2168-6149
2168-6157
DOI:10.1001/jamaneurol.2022.3391