Posted November 13, 2015
Epilepsy is the most common neurological manifestation in tuberous sclerosis complex (TSC); up to 90% of individuals with TSC will be affected by epilepsy during their lifetime. There are many forms and severities of epilepsy, a disorder characterized by repeated, spontaneous seizures. We now understand that epilepsy may develop from abnormal brain wiring, an imbalance of chemical signals in the brain, and/or changes in the cellular channels that maintain the chemical balance. In TSC, seizures are believed to stem from cortical tubers, small regions of the brain that do not develop normally.
In honor of National Epilepsy Awareness Month, the Tuberous Sclerosis Complex Research Program (TSCRP) is presenting this highlight to showcase TSCRP-funded investigators' contributions to the epilepsy research field.*
Early TSCRP-funded research focused on providing the research community with animal models to study the mechanisms and signaling pathways. Although relevant animal models continue to be developed to further the understanding of the mechanisms underlying epilepsy in TSC, these early models and results contributed to the groundwork and preliminary data for many subsequent research projects.
The information gleaned by animal models has led to many breakthroughs in our understanding of signaling pathways in TSC. TSCRP-funded research studies designed to further elucidate these signaling pathways have allowed for the emergence of more specific research into the underlying mechanisms of epilepsy in TSC, including the role of inflammatory growth factors and cytokines. The TSCRP is continuing its commitment to epilepsy research; currently active research projects will contribute to both the field of TSC and epilepsy.
There are current treatments and medications available to help manage seizures and epilepsy. However, understanding the direct mechanisms that can cause and exacerbate epileptic seizures, specifically those resulting from TSC disease, may one day lead to treatments that would remove them from the list of TSC manifestations. The TSCRP is pleased to have played a part in funding TSC-related epilepsy research in the past and looks forward to funding future research in this important area.
*Please click on the hyperlinks above to learn more about the research projects.