Resumo

DE LA TORRE, Alejandro. The genetics of epilepsy in the clinical practice. Medicina (B. Aires) [online]. 2023, vol.83, suppl.4, pp.9-12. ISSN 0025-7680.

Epilepsy is a neurological disorder characterized by recurrent unprovoked seizures. It is known that genetics play an important etiology roll. During the last decades it has been possible to find specific genes involved in the pathogenesis of this condition. There are currently multiple studies available in clinical practice for genetic diagnosis, the most useful being the next generation se quencing (NGS) techniques with multi-gene panels and whole exome sequencing. Having a genetic diagnosis can help improve the quality of life of each patient and their family, while it helps us to individualize the treatment, making it more effective. Some examples in which ge netic diagnosis can modify therapeutic conduct include the SCN1A gene, in which it is recommended not to use drugs that block Sodium channels, and the SLC2A1 gene, in which starting ketogenic diet is recommended. The future of precision medicine research in epilepsy is very promising, with the goal that each patient receives treatment according to their genetic etiology.

Palavras-chave : Epilepsy; Genetics; Variant; Precision medicine.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )