Technological advances over the past decade have made precision genetic diagnosis available to many patients. The findings of a new study demonstrate that genetic diagnosis in epilepsy can lead to changes in clinical management that manifest as positive outcomes for the patient. The results herald a new era in which precision diagnosis will lead to precision medicine.
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Johannesen, K.M. From precision diagnosis to precision treatment in epilepsy. Nat Rev Neurol 19, 69–70 (2023). https://doi.org/10.1038/s41582-022-00756-0
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DOI: https://doi.org/10.1038/s41582-022-00756-0
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De novo ADGRV1 variant in a patient with ictal asystole provides novel clues for increased risk of SUDEP
Acta Epileptologica (2023)