Tuberous sclerosis complex (TSC) is one of the most common causes of epilepsy due to a single-gene defect. Recent insights into the genetics and pathophysiology of TSC have identified the mechanistic target of rapamycin (mTOR) pathway as a central mediator of epileptogenesis, implicating mTOR inhibitors as a potential novel treatment for epilepsy in TSC. Furthermore, mTOR has also been implicated in other genetic diseases associated with epilepsy, collectively labeled "mTORopathies." A large number of animal models of TSC and related epilepsies due to mTORopathies have been generated, including heterozygous Tsc1 and Tsc2 mutants and a variety of conditional and inducible knockouts in different cell types in the brain. These animal models have revealed important information about cellular and molecular mechanisms of epileptogenesis in TSC and related mTORopathies and suggest potential novel therapeutic approaches for treating epilepsy in these disorders.
|Title of host publication||Models of Seizures and Epilepsy|
|Subtitle of host publication||Second Edition|
|Number of pages||14|
|State||Published - Jan 1 2017|
- Focal cortical dysplasia
- Tuberous sclerosis