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Transformative Research Priorities for the Epilepsies

Autoimmune, Immune and Infectious Causes

The American Epilepsy Society views this topic as a high priority that should encompass strategy to incorporate the expertise from experts in immunology and neuroimmunology. Some revisions would help to ensure its transformative nature.

This focus should be on epilepsy alone, as the co-morbidities add a level of complexity that may make progress slow.

With genetic and epigenetic mechanisms represented strongly in other... more »

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Transformative Research Priorities for the Epilepsies

Unsolved genetic epilepsies- improve models first

The American Epilepsy Society does not recommend this for the top 4-5 priorities for the field. It should instead be a goal for 5-10 years from now, after the ability to develop improved models (priority #1 above) is achieved.

There are a myriad of known gene variants found within intronic or untranslated gene regions or at splice-sites that will require functional validation in vitro by expression of the variant in... more »

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Transformative Research Priorities for the Epilepsies

Translational models with human relevance

The American Epilepsy Society suggests that this priority be merged with priority (#1).

It is indeed a high priority to make models in cells and multiple organisms (fly, fish, mouse) that actually replicate the human mechanisms, e.g., gene knockout may not be the same as gene inactivation from a missense variant. All models have REAL human relevance, it is just HOW relevant. Another way to say it might be: Develop cell... more »

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Transformative Research Priorities for the Epilepsies

Identify those at higher risk for SUDEP

AES believes this is high public health priority as it will save lives i.e., to identify patients at higher risk for SUDEP and thus particularly in need of pharmaco-treatments or preventative devices (AICD) or patient surveillance. It will, however, be a major challenge due to ascertainment and low (sporadic) sample size worldwide. A genetic approach to identify genes associated with SUDEP is laudable though it seems... more »

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Transformative Research Priorities for the Epilepsies

Instituting Research Collaborations Across Rare Epilepsies

As a parent, rare epilepsy organization co-founder, and lifelong advocate, I undertook a Rare Epilepsy Landscape Analysis (RELA) (bit.ly/RELAanalysis) and (https://bit.ly/RELAappendix) in 2019. The RELA identified 75 Rare epilepsy organizations (there are over 100 today!) and developed a 111 question survey developed by and for the Rare epilepsy organizations and other key stakeholders. 44 rare epilepsy organizations... more »

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2020 Epilepsy Research Benchmarks

Studying Telehealth in Epilepsy

As the current Covid-19 pandemic has made in person visits difficult or impossible, colleagues in academic and other settings have been managing neurology clinical research subjects and patients using telehealth platforms. Teleheath may have an important role in monitoring epilepsy clinical research subjects, and may be particularly helpful for following established research subjects/patients and may permit ongoing clinical... more »

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2020 Epilepsy Research Benchmarks

Strategically integrating the benchmarks for clarity

Few benchmarks will have large clinical impact if accomplished alone. Most benchmarks, specifically those relating to integrating large data sets and developing models, depend upon integrating knowledge gained from progress toward other benchmarks. In Area II, for example, benchmarks A, B, and C could be addressed separately, by a variety of innovative research approaches large and small. However, benchmark F needs input... more »

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Transformative Research Priorities for the Epilepsies

New models of epileptogenesis must mimic human etiologies

The AES views this as the most important research endeavor for the next 5 years. We suggest a revision to explicitly state that new models must mimic human etiologies.

 

The lowest hanging fruit for epilepsy models is to use CRISPR-knock-in (KI) strategies to create mice expressing human gene variants rather than simply presuming gene knockout or over-expression will accurately model a loss- or gain-of-function mutation.... more »

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Transformative Research Priorities for the Epilepsies

Broaden understanding of epileptogenesis

The American Epilepsy Society considers this a high priority. As in human cancer, there will likely be common and overarching processes or mechanisms that lead to the establishment of the epileptic network. By analogy, all cancers stem from abnormally exuberant cell proliferation, and epilepsy reflects abnormal synchrony of neural networks. But the processes and mechanisms leading to seizures in SCN1A may be very different... more »

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Transformative Research Priorities for the Epilepsies

Precision Diagnosis; an Etiology for Everyone

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, which are often also the most rare, and therefore understudied. A grand challenge is to develop ways to rapidly diagnose an epilepsy etiology—whether... more »

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2020 Epilepsy Research Benchmarks

Risks of Fetal Antiseizure Medicine Exposure

Antiseizure medicines (ASMs) are one of the most commonly used teratogens. The current benchmarks include impact of epilepsy on women's health outcomes and health of their offspring (fetal and neonatal development, but progress is slow and the risks of fetal exposure for most ASMs remain unknown. Integrated basic and clinical research is needed to fully delineate risks and underlying mechanisms for ASM-induced anatomical... more »

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