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.