Аннотация
This chapter reviews some of the recent advances in the classification of epilepsy, the molecular genetics in epilepsies, the intervention of modern technology, and neuroimaging. It discusses the clinical and genetic characteristics of febrile seizure (FS), severe myoclonic epilepsy of infancy (SMEI), childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME) and novel progressive myoclonic epilepsy (PME). Whole genome sequencing has become affordable, and exome sequencing-that is, the sequencing of large parts of the protein-coding region of the human genome- is established as a standard technology. Epilepsy-specific gene panels have become available to test for sequence variants and whole or partial gene deletions and duplications in multiple genes. The advantage of these panels is being able to detect intragenic deletions below the resolution of chromosomal microarray analysis (CMA) that also might be missed by Sanger sequencing.