| Popis: |
Genetic Generalized Epilepsy (GGE) encompasses two well-studied syndrome specific epilepsies. Here we discuss recent advances in our understanding of mouse models of Generalized Epilepsy with Febrile Seizures plus (GEFS+) and Dravet syndrome. This disease spectrum includes individuals with a broad range of clinical features, from mildly to severely affected, and often associated with the same genetic mutation. Insight gained through the analyses of genetic mouse models have advanced our understanding of the mechanisms that transform monogenic lesions to cell-type specific, network, and whole brain dysfunction. Growing evidence suggests that while ion channel gene mutations are primarily linked to seizure genesis, structural changes are also evident and may contribute to epileptogenesis, including increased seizure susceptibility and disease severity. |
