Here are the 2020 Epilepsy Research Benchmarks for your comments, feedback and ideas:
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Area 1: Understand the causes of the epilepsies and their relationship to epilepsy-associated neurologic, psychiatric, and somatic conditions.
A. Identify genes and pathways associated with all the epilepsies and epilepsy-related conditions, and determine how changes in genes, alone and in combination with other factors, contribute to the development of these conditions.
B. Identify and understand the mechanisms by which infections, immune modulation, age, environment, vascular changes, perinatal factors, trauma, and other causes and risk factors, alone and in combination, contribute to the development of the epilepsies and epilepsy-related conditions.
C. Determine how alterations in molecular and cellular function interact with alterations in circuit and network function in the pathogenesis of cortical hyperexcitability and the clinical epilepsies.
D. Identify and understand the mechanisms by which factors related to age, gender, race/ethnicity, socioeconomic status, and other features of specific populations affect the risk of developing epilepsy and epilepsy-related conditions.
E. Determine the relationship between the mechanisms that underlie the epilepsies and those that underlie commonly co-occurring epilepsy-related conditions (e.g., neuropsychiatric or neurodevelopmental disorders).
Area II: Prevent epilepsy and its progression.
A. Understand epileptogenic processes involved in epilepsies with neurodevelopmental origins, including those due to genetic or epigenetic causes.
B. Understand epileptogenic processes involved in the development of epilepsy following traumatic brain injury, stroke, brain tumor, infections, neurodegeneration, or other insults to the brain.
C. Identify biomarkers that will aid in identifying, predicting, and monitoring epileptogenesis and disease progression, including markers early after injury/insult that identify those people at risk for epilepsy.
D. Develop or refine models aligned with the etiologies of human epilepsies to enable improved understanding of epileptogenesis and rigorous preclinical therapy development for epilepsy prevention or disease modification.
E. Identify new targets and develop interventions to prevent or modify epileptogenesis and the progression of epilepsy and epilepsy-related conditions.
F. Combine complex systems and/or machine learning approaches with laboratory studies in order to identify convergent phenotypes or pathways, examine background genetic or epigenetic effects, or consider novel molecular reclassifications of disease and the epileptogenic process.
Area III. Improve treatment options for controlling seizures and epilepsy-related conditions while limiting side effects.
A. In order to identify new antiseizure or disease-modifying therapeutic targets and mechanism-based therapies, we need to (1) understand the mechanisms of initiation, propagation, and termination of seizures at the cellular and network level for different seizure types, including status epilepticus, and in different forms of epilepsy, (2) understand the neural circuits, cell types, cellular interactions, and genetic factors that participate in interictal activity, different seizure types and in different forms of epilepsy, and (3) understand the cellular, molecular, and network and systems basis for treatment side effects.
B. Identify genetic, molecular, imaging, immunological, and electrophysiological biomarkers, mechanisms of pharmacoresistance, and clinical informatics tools so that the most appropriate pharmacological, biological, surgical, or device therapy can be selected for an individual with a common or rare epilepsy. These efforts should take into consideration time, an individual's unique set of personal characteristics, including sex and life stage (e.g., childhood, pregnancy, elderly), and consider inclusion of non-seizure outcome measures reflecting other epilepsy-related risks.
C. Develop, refine, fully characterize, and deploy epilepsy and seizure models (including in non-rodents) that align with the etiologies, clinical features, rhythmicities, treatment responses, and development of resistance of human epilepsies to improve understanding of epileptogenesis, ictogenesis, seizure initiation, seizure termination, disease progression, and therapeutic targets. Explore the utility of new technologies to model human epilepsies and screen for therapies in a high throughput fashion, including iPSCs and organoids.
D. Identify, develop, and improve pharmacological, surgical, genetic, epigenetic, neuromodulatory, dietary interventions and devices to detect, predict, prevent, or terminate seizures and other epilepsy-related health risks while minimizing adverse effects.
E. Develop, improve, implement, and validate strategies, protocols, and interventions for epilepsy self-management in the home or other non-medical settings that allow ongoing assessment of treatment response, improve therapy adherence, and minimize adverse effects of therapies.
Area IV. Limit, treat, or prevent co-occurring conditions associated with epilepsy across the lifespan in general and special epilepsy populations.
A. Understand and limit the impact of epilepsy on non-seizure outcomes such as neurodevelopment, mental health, cognition, health-related quality of life, and other functions.
B. Understand and limit the impact of anti-seizure treatments (medical, surgical, and other interventions) on non-seizure outcomes, such as neurodevelopment, mental health, cognition, health-related quality of life, and other functions.
C. Understand mechanisms (psychiatric and neurological) involved in non-epileptic seizures (NES). Develop effective pediatric and adult treatments and assess outcomes in NES including psychopathology and quality of life.
D. Identify causes, risk factors, and potential preventative strategies for sudden unexpected death in epilepsy (SUDEP) and other epilepsy-related mortality due to co-occurring conditions including depression, anxiety, and suicide in people with epilepsy.
E. Identify the impact of epilepsy on women's health outcomes (fertility, pregnancy, bone health, hormones, mental health, QOL) and health of their offspring (fetal and neonatal development).
F. Understand the role of sleep and circadian rhythms in cognitive and psychiatric and other health related outcomes. Identify and treat sleep as a target to improve non-seizure outcomes, such as neurodevelopment, mental health, cognition, health-related quality of life, and other functions.