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The present reality and the future promise of precision medicine in epilepsy.
Precision medicine (PM) aims to offer a therapy targeted to the molecular abnormality that leads to the specific phenotype. Monogenic epilepsies naturally lend themselves to PM approach. But are we there yet? The study by Ballestrini et al 1 surveyed six tertiary epilepsy centres to understand the ‘real-life’ complexities of PM. Out of 293 patients with various forms of genetic epilepsies, an established PM treatment was available for 19% of them. However, only 30% of patients receiving PM treatments had a meaningful decrease in seizure frequency. Interestingly, the genetic diagnostic also prompted further diagnostic assessment (for instance, cardiologic investigation) and changes in antiseizure medications (ASMs) in 35%. Overall, improvement in quality of life as a result …
Contributors I wrote the editorial comments, no help required.
Funding The author has not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Commissioned; internally peer reviewed.