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Novel treatments in Epilepsy guided by Genetic Diagnosis
  • Carla Marini,
  • Maria Giardino
Carla Marini
Ospedale Pediatrico G Salesi
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Maria Giardino
Ospedale Pediatrico G Salesi
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Identifying the optimal treatment based on specific aetiology of each patient is the main promise of precision medicine. In order to realize this promise researches and physicians must first identify the underlying cause; over the last 10 years, advances in genetics have made this possible for several monogenic epilepsies. At present through next generation techniques we can reach the precise genetic aetiology in 30 to 50% of genetic epilepsies beginning in the paediatric age. While committed in such gene hunting, progresses in the study of experimental models of epilepsy have also provided a better understanding of the mechanisms underlying the condition. Such impressive advances is already being translated into improving care, management and treatment of some patients. Identification of a precise genetic etiology can already direct physicians to prescribe treatments correcting specific metabolic defects avoid antiseizure medicines that can aggravate the pathogenic defect or select the drug that counteract the functional disturbance caused by the gene mutation. Personalized, tailored treatments should not just focus on how to stop seizures but possibly preventing their onset and cure the disorder often consisting of epilepsy and its comorbidities including cognitive, motor and behavior deficiencies. This review discusses the therapeutic implications following a specific genetic diagnosis and the correlation between genetic findings, pathophysiological mechanism and tailored seizure treatment emphasizing the impact on current clinical practice.

Peer review status:UNDER REVIEW

06 May 2021Submitted to British Journal of Clinical Pharmacology
07 May 2021Assigned to Editor
07 May 2021Submission Checks Completed
12 May 2021Reviewer(s) Assigned
02 Jun 2021Review(s) Completed, Editorial Evaluation Pending