No abstract

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.

In recent years, precision medicine has emerged as a new paradigm for improved and more individualized patient care. Its key objective is to provide the right treatment, to the right patient at the right time, by basing medical decisions on individual characteristics, including specific genetic biomarkers. In order to realize this objective researchers and physicians must first identify the underlying genetic cause; over the last 10 years, advances in genetics have made this possible for several monogenic epilepsies. Through next generation techniques, a precise genetic aetiology is attainable in 30–50% of genetic epilepsies beginning in the paediatric age. While committed in such search for novel genes carrying disease‐causing variants, progress in the study of experimental models of epilepsy has also provided a better understanding of the mechanisms underlying the condition. Such advances are already being translated into improving care, management and treatment of some patients. Identification of a precise genetic aetiology can already direct physicians to prescribe treatments correcting specific metabolic defects, avoid antiseizure medicines that might aggravate functional consequences of the disease‐causing variant or select the drugs that counteract the underlying, genetically determined, functional disturbance. Personalized, tailored treatments should not just focus on how to stop seizures but possibly prevent their onset and cure the disorder, often consisting of seizures and its comorbidities including cognitive, motor and behaviour deficiencies. This review discusses the therapeutic implications following a specific genetic diagnosis and the correlation between genetic findings, pathophysiological mechanisms and tailored seizure treatment, emphasizing the impact on current clinical practice.