Genetics of Epilepsy

Epilepsy genetics is a rapidly evolving field. In the last 20 years, the discovery of many new genes implicated in epilepsy has advanced our understanding of the molecular and cellular mechanisms in epileptogenesis. In this chapter, we provide an overview of the current knowledge of epilepsy genetics and its impact on clinical practice. Genetic epilepsies comprise a group of clinically heterogeneous disorders, which often can be sub-classified into specific epilepsy syndromes based on the age of onset, seizure type, EEG patterns and clinical phenotypes, which are outlined here. We discuss the commonly available genetic tests and summarize recent testing guidelines. Finally, we discuss the application of precision medicine for genetic epilepsy, including novel gene targeting and traditional therapies.