Our understanding of the major genes associated with causal-mutations in the genetic epilepsies has vastly increased in the last two decades, there is still so much that is poorly understood about how genotypes correspond to phenotypic outcomes amongst patients with similar causal mutations. Researchers have begun to investigate the... more »
• Research the relationship between sleep and seizures
• Explore prevalence of different multi-dien seizure cycles. Explore how seizure cycles impact expression of comorbidities.
• Assess the true incidence of epilepsy mortality including SUDEP. – Develop better surveillance tools and methods so that risk factors... more »
• For new genes/pathways that have been figured out for monogenetic conditions, promote or support gene modifying solutions.
• Understand how dysfunctional networks allow propagation of seizures
• Explore how intervention in a network rather than on a seizure focus could eliminate seizures or improve... more »
• Grand Challenge idea: "Biomarkers for Prevention before Seizure Onset" – Following the example of TSC and vigabatrin, a grand challenge may be to identify the range of other epilepsies that can be accurately identified before seizures emerge, and develop targeted programs to develop biomarkers and preventive treatments. Examples could include individuals with higher... more »
• Grand Challenge idea: Precision diagnosis – right now there are a large number of people with epilepsy with an unknown cause. This means that our understanding of the phenotypes that we currently associate with a specific etiology (such as genetic) may be skewed to only the most severe phenotypes,... more »
One massive barrier is the lack of surgical outcomes knowledge - especially functional... more »