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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

Understanding the etiology of late-onset epilepsy

One third of late-onset epilepsy have no known etiology. Cognitive symptoms are common with LOE and a third of these patients have mild cognitive impairment. Some patients with LOE have transient epileptic amnesia (TEA), while others develop neurodegenerative diseases such as Alzheimer's disease or dementia with Lewy bodies. Autoimmune causes have variable clinical presentations.

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(@jeffrey.loeb) kudos icon 7

2020 Epilepsy Research Benchmarks

Focus on Networks

Epilepsy is a disease of multi-layered networks including electrical networks that we record on surface and intracranial EEG down to synaptic networks; spatial networks seen with advanced imaging and the presence or absence of developmental or acquired lesions; and the underlying cellular, genetic, and metabolic network. I would argue a research priority to develop ways to understand these individual networks as well... more »

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2020 Epilepsy Research Benchmarks

A cure is important but so is the person

Area IV:A In this section, there is no mention of treatment for mental health disorders. The language does indicate "understand and limit the impact of epilepsy" on mental health outcomes and then in D "identify causes and risks for epilepsy related mortality" due to mental health conditions. But, this does not appear to account for non-pharmacological interventions in the treatment of mental health disorders. There is... more »

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(@steve) kudos icon 5

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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(@dboison) kudos icon 2

Transformative Research Priorities for the Epilepsies

Other

Metabolic and biochemical pathways are an understudied research area in the epilepsies. Biochemical pathways provide crucial links between gene expression (e.g. via epigenetic modification), energy metabolism (mitochondria, ATP), neuron-glia interactions, and finally neuronal excitability. Derailment of metabolic functions can affect a complex system such as the brain on multiple different levels and metabolism or biochemistry... more »

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(@eheinzen) kudos icon 5

Transformative Research Priorities for the Epilepsies

Modifier genetics to identify drug targets and mechanisms

For many genetic epilepsies the pathomechanisms are not known making rapid identification of novel drug targets challenging. Identifying genetic modifiers of high-risk epilepsy alleles using a variety of approaches (CRISPR screens, leveraging natural genetic diversity in model organisms, human modifier studies using large patient repositories) may inform key genes involved in disease mechanisms and could illuminate drug... more »

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(@jayetta) kudos icon 17

Transformative Research Priorities for the Epilepsies

Laying the Foundation for an Epilepsy Moonshot

More substantive research priorities, however well framed and targeted, can not alone overcome the inefficiencies and silo-ed structure for clinical care and research in the epilepsies.

By integrating clinical care and research—the standard for decades in pediatric oncology—we will get on a path where we will start seeing improvements in the quality of life for all those living with and too often dying from epilepsy.... more »

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(@annapurna.poduri) kudos icon 14

Transformative Research Priorities for the Epilepsies

Accelerating precision diagnosis to precision treatment

This priority will transform epilepsy research by integrating modern science into modern care for patients with epilepsy.

For example, a patient with as yet unexplained non-acquired epilepsy should be considered to have genetic epilepsy until proven otherwise and appropriately evaluated. If the first line of evaluation is unrevealing he or she should have an iterative re-analysis of cause in tandem with empiric therapy.... more »

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(@kmeador) kudos icon +

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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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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