Diagnostics of genetic epilepsies

Abstract

Depending on the seizure semiology and electroencephalography (EEG) findings, epilepsies are usually clinically divided into focal or generalized forms. If a child also has a developmental delay following the manifestation of epilepsy, this can often be attributed to an epileptic encephalopathy. The mutational spectrum of genetic epilepsies is extremely heterogeneous and can best be captured by high-throughput sequencing. Particularly in encephalopathies, there is a high diagnostic yield. Currently, there are individualized treatment options for several types of genetic epilepsies targeting the respective molecular pathomechanism and the number of such personalized treatment options is steadily increasing.