Encefalopatie epilettiche e dello sviluppo: dalla pratica alla genetica, andata e ritorno

Abstract

In the last decades the research on the genetics of epilepsy has greatly expanded, supported by the development of effective next-generation sequencing (NGS) methods. In particular, the studies in Developmental and Epileptic Encephalopathies (DEEs) discover an everyday increasing number of new epilepsy-associated genes and provide information with positive effects on genetic counselling and treatment choice. Thanks to NGS, genetics is becoming a first line diagnostic test in DEEs but a consensus on who should receive genetic testing, on the best testing strategy and on the utility of genetic testing is still lacking. Many patients are being studied with research sequencing and analysis. The participation in a study on the genetic causes of DEE led to share some considerations about this topic and the most relevant aspects of the described experience.