Epilepsy Community Research Articles

“In the wilderness…dealing with difficult situations”: Knowledge exchange with care home staff in England on managing seizures and epilepsy – An initial exploration

PurposeWith epilepsy increasingly affecting older adults, seizure-related care needs arise in new settings. Persons in these settings must receive optimal support and challenges identified for remediation. This may entail the epilepsy community researching in unfamiliar environments. One setting is care homes. Seizure-related ambulance incidents in them are common. We conducted the first qualitative study with care home staff to explore their experiences and challenges in managing suspected seizures. MethodsThree online focus groups were organised for January 2024 to explore ambulance calls, post-incident procedures, and challenges faced by care home staff when managing seizures. Persons were eligible to participate if they worked as a care assistant, nurse or manager in a care home in North-West England. Different recruitment pathways were employed including direct approach, a managers’ network, social media and a register of research interested homes. Focus group audio recordings were transcribed and analysed using Hamilton’s Rapid Analysis. ResultsRecruitment was difficult; 13 care home staff from 12 different homes were ultimately recruited. Despite data saturation not being achieved, insights were gained regarding ambulance call decisions, paperwork navigation, and follow-up care challenges. Patients not having meaningful seizure action plans in place and regulatory restrictions were identified as factors that contributed to potentially avoidable calls for ambulance help being made. ConclusionThis study highlights systemic issues in care homes’ seizure care, emphasizing the need for further research. The epilepsy community may need to innovate to better research within this increasingly important setting. This study offers insights into the effectiveness of different recruitment strategies.

Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.

Sudden Unexpected Death in Epilepsy (SUDEP) is the leading epilepsy-related cause of death, affecting approximately 1 per 1,000 individuals with epilepsy per year. Genetic variants that affect autonomic function, such as genes associated with cardiac arrhythmias, may predispose people with epilepsy to greater risk of both sudden cardiac death and SUDEP. Advances in next generation sequencing allow for the exploration of gene variants as potential biomarkers. Genetic testing for the presence of cardiac arrhythmia and epilepsy gene variants was performed via genetic panels in 39 cases of SUDEP identified via autopsy by the Ontario Forensic Pathology Service. Variants were summarized by in-silico evidence for pathogenicity from 4 algorithms (SIFT, PolyPhen-2, PROVEAN, Mutation Taster) and allele frequencies in the general population (GnomAD). A maximum credible population allele frequency of 0.00004 was calculated based on epilepsy prevalence and SUDEP incidence to assess whether a variant was compatible with a pathogenic interpretation. Median age at the time of death was 33.3 years (range: 2, 60). Fifty-nine percent (n=23) were male. Gene panels detected 62 unique variants in 45 genes: 19 on the arrhythmia panel and 26 on the epilepsy panel. At least one variant was identified in 28 (72%) of decedents. Missense mutations comprised 57 (92%) of the observed variants. At least three in silico models predicted 12 (46%) cardiac arrhythmia panel missense variants and 20 (65%) epilepsy panel missense variants were pathogenic. Population allele frequencies were <0.00004 for 11 (42%) of the cardiac variants and 10 (32%) of the epilepsy variants. Together, these metrics identified 13 SUDEP variants of interest. Nearly three-quarters of decedents in this SUDEP cohort carried variants in comprehensive epilepsy or cardiac arrhythmia gene panels, with more than a third having variants in both panels. The proportion of decedents with cardiac variants aligns with recent studies of the disproportionate cardiac burden the epilepsy community faces compared to the general population and suggests a possible cardiac contribution to epilepsy mortality. These results identified 13 priority targets for future functional studies of these genes potential role in sudden death and demonstrates the necessity for further exploration of potential genetic contributions to SUDEP.

Fear of Coronavirus Disease 2019 among People with Epilepsy.

Epileptic patients are worried about getting coronavirus disease 2019 (COVID-19) infection and have recurrent thoughts of becoming infected with this virus. This study involved 205 patients diagnosed with epilepsy. The questionnaire included questions about sociodemographic information to analyze the demographic composition. The evaluation of the fear of COVID-19 infection was conducted utilizing the Fear of COVID-19 Scale (FCV-19S). The study enrolled 113 participants (55.10% male and 44.90% female) with an average age of 27.34 years. The mean fear score (FCV-19S) was 14.25, and fear of COVID-19 infection was present in 41 (20%) participants with a mean [standard deviation (SD)] FCV-19S score of 23.19 (3.33). Participants who were >45 years of age, married, graduated, and had low family income were significantly more likely to be fearful of COVID-19. Using logistic regression, education, marital status, and family income were identified as risk factors for having significant fear of coronavirus infection. Given the notable prevalence of COVID-19-related fear within the epilepsy community, it is advisable to develop a well-thought-out strategy for promptly identifying vulnerable patients who may be at an increased risk of experiencing fear and anxiety.

Advancing post-traumatic seizure classification and biomarker identification: Information decomposition based multimodal fusion and explainable machine learning with missing neuroimaging data

A late post-traumatic seizure (LPTS), a consequence of traumatic brain injury (TBI), can potentially evolve into a lifelong condition known as post-traumatic epilepsy (PTE). Presently, the mechanism that triggers epileptogenesis in TBI patients remains elusive, inspiring the epilepsy community to devise ways to predict which TBI patients will develop PTE and to identify potential biomarkers. In response to this need, our study collected comprehensive, longitudinal multimodal data from 48 TBI patients across multiple participating institutions. A supervised binary classification task was created, contrasting data from LPTS patients with those without LPTS. To accommodate missing modalities in some subjects, we took a two-pronged approach. Firstly, we extended a graphical model-based Bayesian estimator to directly classify subjects with incomplete modality. Secondly, we explored conventional imputation techniques. The imputed multimodal information was then combined, following several fusion and dimensionality reduction techniques found in the literature, and subsequently fitted to a kernel- or a tree-based classifier. For this fusion, we proposed two new algorithms: recursive elimination of correlated components (RECC) that filters information based on the correlation between the already selected features, and information decomposition and selective fusion (IDSF), which effectively recombines information from decomposed multimodal features. Our cross-validation findings showed that the proposed IDSF algorithm delivers superior performance based on the area under the curve (AUC) score. Ultimately, after rigorous statistical comparisons and interpretable machine learning examination using Shapley values of the most frequently selected features, we recommend the two following magnetic resonance imaging (MRI) abnormalities as potential biomarkers: the left anterior limb of internal capsule in diffusion MRI (dMRI), and the right middle temporal gyrus in functional MRI (fMRI).

Evaluating the Current State of Epilepsy Care in the Province of Ontario.

There are numerous challenges pertaining to epilepsy care across Ontario, including Epilepsy Monitoring Unit (EMU) bed pressures, surgical access and community supports. We sampled the current clinical, community and operational state of Ontario epilepsy centres and community epilepsy agencies post COVID-19 pandemic. A 44-item survey was distributed to all 11 district and regional adult and paediatric Ontario epilepsy centres. Qualitative responses were collected from community epilepsy agencies. Results revealed ongoing gaps in epilepsy care across Ontario, with EMU bed pressures and labour shortages being limiting factors. A clinical network advising the Ontario Ministry of Health will improve access to epilepsy care.

Climate change: Attitudes and concerns of, and learnings from, people with neurological conditions, carers, and health care professionals.

Concern about climate change among the general public is acknowledged by surveys. The health care sector must play its part in reducing greenhouse gas emissions and adapting to a changing climate, which will require the support of its stakeholders including those with epilepsy, who may be especially vulnerable. It is important to understand this community's attitudes and concerns about climate change and societal responses. A survey was made available to more than 100 000 people among a section of the neurological community (patients, carers, and clinicians), focused on epilepsy. We applied quantitative analysis of Likert scale responses supported by qualitative analyses of free-text questions with crossover analyses to identify consonance and dissonance between the two approaches. A small proportion of potential respondents completed the survey; of 126 respondents, 52 had epilepsy and 56 explicitly declared no illness. The survey indicated concern about the impact of climate change on health within this neurological community focused on epilepsy. More than half of respondents considered climate change to have been bad for their health, rising to 68% in a subgroup with a neurological condition; over 80% expected climate change to harm their health in future. Most (>75%) believed that action to reduce greenhouse gas emissions will lead to improved health and well-being. The crossover analysis identified cost and accessibility as significant barriers. The high level of concern about climate change impacts and positive attitudes toward policies to reduce greenhouse gas emissions provide support for climate action from the epilepsy community. However, if policies are implemented without considering the needs of patients, they risk being exclusionary, worsening inequalities, and further threatening neurological health and well-being.

PreEpiSeizures: description and outcomes of physiological data acquisition using wearable devices during video-EEG monitoring in people with epilepsy.

The PreEpiSeizures project was created to better understand epilepsy and seizures through wearable technologies. The motivation was to capture physiological information related to epileptic seizures, besides Electroencephalography (EEG) during video-EEG monitorings. If other physiological signals have reliable information of epileptic seizures, unobtrusive wearable technology could be used to monitor epilepsy in daily life. The development of wearable solutions for epilepsy is limited by the nonexistence of datasets which could validate these solutions. Three different form factors were developed and deployed, and the signal quality was assessed for all acquired biosignals. The wearable data acquisition was performed during the video-EEG of patients with epilepsy. The results achieved so far include 59 patients from 2 hospitals totaling 2,721 h of wearable data and 348 seizures. Besides the wearable data, the Electrocardiogram of the hospital is also useable, totalling 5,838 h of hospital data. The quality ECG signals collected with the proposed wearable is equated with the hospital system, and all other biosignals also achieved state-of-the-art quality. During the data acquisition, 18 challenges were identified, and are presented alongside their possible solutions. Though this is an ongoing work, there were many lessons learned which could help to predict possible problems in wearable data collections and also contribute to the epilepsy community with new physiological information. This work contributes with original wearable data and results relevant to epilepsy research, and discusses relevant challenges that impact wearable health monitoring.

A question prompt list for sudden unexpected death in epilepsy

A question prompt list for sudden unexpected death in epilepsy

A Potential Systematic Barrier to Community Health Literacy about Epilepsy Surgery: A Preliminary Readability Analysis of Online Health Education Materials in the United States (P6-1.006)

<h3>Objective:</h3> Analyze readability of online health education materials designed to provide epilepsy surgery information to patients. <h3>Background:</h3> Epilepsy surgery is an effective albeit underused treatment for refractory epilepsy. The workup and procedure explanations are complex and further compounded by the cognitive difficulties many people with epilepsy face. A previous United Kingdom study showed poor readability of online resources used for epilepsy surgery. However, there is still much to explore regarding the readability of resources in the United States, and what kinds of sites are associated with better readability. <h3>Design/Methods:</h3> A private browser was used to search Google for the top 100 search results for the terms “epilepsy+surgery”. Scientific papers, insurance pages, pay-wall access sites, and non-text content were excluded. The website text was re-formatted to exclude graphics, contact information, links, and headers. Readability metrics were calculated using an online readability tool (Datayze Readability Analyzer). Analysis was done through R using the Kruskal-Wallis test, and statistical assumptions were assessed. <h3>Results:</h3> Here we present the preliminary analysis of the top 100 items from a Google search yielding 76 websites and 24 exclusions. Websites were categorized as US based organizations or non-US, content from level 4 epilepsy centers, and if the sources were community health websites not associated with academic institutions. The Flesch Reading Ease (FRE) and Flesch-Kincaid Grade Level (FKGL) showed significantly better readability in community health websites (FRE p=.03, FKGL p=.03), non-level 4 epilepsy centers (FRE p=.002, FKGL p=.002), and international websites (FRE p=.02, FKGL =.03). <h3>Conclusions:</h3> Health information source characteristics associated with better readability levels included non-academic centers, non-level 4 epilepsy centers and community health information websites. This analysis suggests that academic centers, especially level 4 epilepsy centers, should consider involving community members, advocacy organizations and non-medical writers in the designing of online epilepsy surgery health education materials. <b>Disclosure:</b> Mr. Seneviratne has nothing to disclose. Ms. Ho has nothing to disclose. Dr. Correa has received personal compensation in the range of $0-$499 for serving as a Consultant for Independent Medical Consultants. Dr. Correa has received personal compensation in the range of $0-$499 for serving as a Consultant for Atheneum Partners. Dr. Correa has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for American Academy of Neurology. Dr. Correa has stock in Aidin Inc. Dr. Correa has received research support from Genentech. Dr. Correa has received research support from Psi Upsilon Foundation Inc.

This is my special note for Steve Schachter

Steve, at last, you are retiring from the job that has been so important to the epilepsy community, following your initiative of recognizing the need for a journal devoted to epilepsy and behavior. I have to say that a different publisher approached me to start such a journal, and I am glad I turned the opportunity down. To be truthful, I did not want to be put in the position of editing such an important and timely publication because I realized the huge amount of time, effort, and energy required.

EEG parameters as endpoints in epilepsy clinical trials - An expert panel opinion paper

IntroductionThe lack of ideal measurement of treatment efficacy is a well acknowledged problem in the epilepsy community, both in clinical care and clinical trials. Whilst still the current gold-standard, self-reported seizure frequency significantly underestimates the true number of seizures and does not account for any other at least equally important outcome parameters, such as neurodevelopment and cognition. With the rise of disease modifying treatments, the need for more reliable endpoints in practice and clinical trials becomes more pressing. In this paper we assembled an expert panel to discuss the nature of these needs, current limitations, and obstacles based on a survey amongst these experts who were queried about the most important issues regarding the use of electroencephalography (EEG) parameters as endpoints in clinical drug and device development. MethodsA structured survey was sent to a group of experts in the design and conduct of epilepsy trials in adults and children. This was followed by a virtual in-person meeting discussing the results of the trial and identifying a list of most important issues. ResultsSix clinical trialists and 5 individuals from pharmaceutical companies returned the survey containing 14 questions, and 8 clinical trialists and 10 pharma-representatives attended the meeting. Three main issues were identified (1) lack of accuracy of seizure diaries due to nocturnal seizures, subtle motor seizures, impairment of consciousness and lack of awareness of the seizure by the patient (2) inter-rater variability of EEG assessment (3) lack of standardization regarding definition(s) of seizures (clinical and electrographic), EEG recording methods and EEG data management. Recommended solutions included (1) validation of EEG parameters as biomarkers and use of wearables (2) development of a manual that describes EEG rating criteria, protocol for validation by > 1 central reader and use of a resolution of disagreements reporting template (3) standardization of EEG recording, data management and reporting. Discussion & conclusionCurrent developments in research and technology seem promising to advance the use of EEG parameters as potential endpoints and offer partial solutions to the current needs. However, continuous, focused and collaborative efforts of all stakeholders (academia, industry and regulatory agencies) are needed to formulate guidelines, validate emerging technologies and approve them for use in trials. It is the intent of this opinion “position paper” to stimulate those efforts.

Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.

The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility of precision treatments tailored to specific genetic etiologies. Despite this, current medical therapy for most epilepsies remains imprecise, aimed primarily at empirical seizure reduction rather than targeting specific disease processes. Intellectual and technological leaps in diagnosis over the past 10 years have not yet translated to routine changes in clinical practice. However, the epilepsy community is poised to make impressive gains in precision therapy, with continued innovation in gene discovery, diagnostic ability, and bioinformatics; increased access to genetic testing and counseling; fuller understanding of natural histories; agility and rigor in preclinical research, including strategic use of emerging model systems; and engagement of an evolving group of stakeholders (including patient advocates, governmental resources, and clinicians and scientists in academia and industry). In each of these areas, we highlight notable examples of recent progress, new or persistent challenges, and future directions. The future of precision medicine for genetic epilepsy looks bright if key opportunities on the horizon can be pursued with strategic and coordinated effort.

The potential interaction between antiepileptic drugs and nutraceuticals used in pediatrics with epilepsy

Background: The trend of using nutraceuticals in Indonesia increases every year. This study aims to describe nutraceuticals consumed in pediatrics with epilepsy as additional antiepileptic therapy and analyze their potential drug interactions.&#x0D; Methods: This research was a cross-sectional study with total sampling method which was carried out in the period of June to July 2020. Inclusion criteria were children with epilepsy aged 0-17 years who were members of the Indonesian Epilepsy Community, had a doctor's diagnosis of epilepsy, received oral antiepileptic medication, and took nutraceutical products/food supplements. Data were analyzed descriptively based on data obtained through electronic data filling sheets and interviews.&#x0D; Results: There were 106 participants from the Indonesian Epilepsy Community in total, with 14 children (13.2 %) using nutraceutical supplements. They were male (n=8; 57.1%), 2-12 years old (n=10; 71.4%), and good nutritional status (n=10; 71.4%). Most nutraceuticals consumed were dietary supplements containing vitamins (n=10; 71.4%). Of the eight potential drug interactions identified, 25% (n=2) were significant interactions, and 75% (n=6) were minor interactions. The potential for major interactions occurred in administering nutraceutical products containing vitamin D with the antiepileptic drug phenytoin and phenobarbital.&#x0D; Conclusion: In this study, nutraceuticals and antiepileptic drugs had a little clinically meaningful interaction effect.

Canadian epilepsy priority-setting partnership: Toward a new national research agenda

BackgroundHealth research agendas are often set by researchers or by industry and may not reflect the needs and priorities of end users. This priority-setting partnership (PSP) for epilepsy was undertaken to identify the most pressing unanswered questions about epilepsy and seizures from the perspective of people with epilepsy (PWE) and their care providers. MethodsUsing the methodology developed by the James Lind Alliance (JLA), evidence uncertainties were gathered via online surveys from stakeholders across Canada. Submissions were formed into summary questions and checked against existing evidence to determine if they were true uncertainties. Verified uncertainties were then ranked by patients, caregivers, and healthcare providers and a final workshop was held to reach a consensus on the top 10 priorities. ResultsThe final top 10 list reflects the priority areas of focus for research as identified by the Canadian epilepsy community, including genetic markers for diagnosis and treatment, concerns about living with the long-term effects of epilepsy, and addressing knowledge gaps in etiology and treatment approaches. ConclusionThis project represents the first systematic evidence of patient- and clinician-centered research priorities for epilepsy. The results of this priority-setting exercise provide an opportunity for researchers and funding agencies to align their agendas with the values and needs of the epilepsy community in order to improve clinical outcomes and quality of life (QOL) for PWE.

Therapeutic Basis of Generic Substitution of Antiseizure Medications.

More than thirty antiseizure medications (ASMs) are available for treating epilepsy. ASMs differ in their potency and efficacy in controlling seizures by acting on diverse targets in the brain, often with variable pharmacokinetics. Moreover, nearly 30% of people with epilepsy have drug-resistant or intractable seizures. Generic substitution of ASMs is a complex issue. It is thought that frequent generic substitution in people with epilepsy may cause problems because the U.S. Food and Drug Administration (FDA) rules allow too much variability across products. The standard bioequivalence range (80% to 125%) appears too broad for many ASMs, especially those exhibiting little separation between therapeutic and toxic levels. Hence, sub-therapeutic concentration may lead to therapeutic failure with seizure recurrence, which could be life threatening. A supra-therapeutic level could result in adverse effects or compliance issues. There are reported issues with generic substitutions of phenytoin, topiramate, levetiracetam, carbamazepine, and lamotrigine. There is discussion in the epilepsy community about additional guidelines, including designation of generic ASMs as Narrow Therapeutic Index (NTI) drugs and how patient education plays a role in generic substitution. Overall, based on the published evidence on specific generic ASMs, FDA bioequivalence standards are not the cause of problems with generic ASM substitution. Rather, it is imperative that physicians and pharmacists provide adequate patient education on what to expect when switching to generic ASMs, including changes in medication shape and color. Another suggestion would be to consider that all ASMs be considered for inclusion in NTI class to prevent the clinical outcome issues associated with generic ASM switching. SIGNIFICANCE STATEMENT: There are critical aspects to consider when switching from a brand name antiseizure medication (ASM) when a generic becomes available or switching between generics. Generic ASMs are interchanged with little consideration of differences in therapeutic equivalence and other clinical factors. This article describes key issues on generic substitution of ASMs and highlights critical pharmacotherapeutic issues associated with generic ASMs.

Pemantauan Kadar Obat Antiepilepsi secara Farmakokinetika Terhadap Clinical Outcome pada Pasien Pediatrik

The high prevalence of antiepileptic drug use in pediatrics increases the risk of side and toxic effects; therefore, it is necessary to monitor drug levels. Therapeutic drug monitoring is conducted through pharmacokinetics by calculating blood drug levels based on respondents' dose and frequency of therapy. This study aimed to determine the pharmacokinetics of antiepileptic drug levels and the correlation with clinical outcomes using descriptive observational design. Furthermore, the Indonesian Epilepsy Community collected respondents' data from June to July 2020 through online and telephone interviews. Out of the 11 respondents that recieved phenytoin, only 1 (9.09%) was in the therapeutic range (10–20 mg/L), while 10 (90.91%) were outside the therapeutic range (&lt;10mg/L). From the 14 respondents that received phenobarbital, 8 (57.14%) were in the therapeutic range (15–40 mg/L), and 6 (42.86%) were outside the therapeutic range (&lt;15 mg/L and &gt;40 mg/L). From the 47 respondents that received valproic acid, 23 were administered through monotherapy, 7 (30.44%) were in the therapeutic range (50–100 mg/L), and 16 (69.56%) were outside the therapeutic range (&lt;50 mg/L and &gt;100mg/L). Out of the 24 respondents that received valproic acid as monotherapy, 18 (75%) were in the therapeutic range (50–100 mg/L), and 6 (25%) were outside the therapeutic range (&lt;50 mg/L and &gt;100mg/L). The results showed that there was no significant relationship (p&gt;0.05) between drug levels and clinical outcome in respondents treated with either monotherapy or polytherapy of valproic acid. In conclusion, a total of 38 respondents (52.05%) had drugs levels outside the therapeutic range, while 35 (47.95%) had drug levels in the therapeutic range. Furthermore, respondents with drug levels outside the therapeutic range require direct monitoring of antiepileptic drug levels to avoid toxic effects and improve clinical outcomes.

"Do I still have epilepsy?" Epilepsy identity 15-20 years after anterior temporal lobectomy.

Identity is a multifaceted construct, comprising personal identity (sense of being a unique individual) and social identity (the sense-of-self derived from membership of social groups). Social identity involves explicit identification with a group ("I am …") and implicit behaviors or attitudes associated with group membership. Following successful treatment with surgery, patients with epilepsy can undergo a complex and lasting change in personal identity. To date, there has been no research into postoperative social epilepsy identity (SEI). We sought to examine SEI 15-20years post-surgery, and the relationship between SEI and satisfaction with surgery, psychosocial improvements, mood, and health-related quality of life (HRQoL). Thirty-two patients who underwent anterior temporal lobectomy (ATL; 19 female) were recruited, with a median follow-up of 18years (interquartile range [IQR]=2.5). Using a novel interactive online program, we collected data on SEI, satisfaction with surgery, and perceived psychosocial improvements, alongside standardized measures of mood (Neurological Disorders Depressio Inventory-Epilepsy; Patient Health Questionnaire-Generalised Anxiety Disorder-7 item) and HRQoL (Quality of Life in Epilepsy-31 item). Non-parametric analyses were used to analyse the data. Twenty-five percent of patients were free of disabling seizures since surgery, yet 65% stated they no longer had epilepsy and >90% reported satisfaction with surgery. Explicitly discarding SEI was positively associated with HRQoL at long-term follow-up, over and above seizure outcome. Implicit SEI was expressed as (a) acceptance of epilepsy, (b) a sense of belonging to the epilepsy community, and (c) difficulty disclosing and discussing epilepsy. Difficulty disclosing and discussing epilepsy was associated with increased anxiety and lower HRQoL. At long-term follow-up, over half of our patients reported an explicit change in SEI, which could promote better HRQoL. In contrast, difficulty with disclosure of epilepsy was associated with increased anxiety and reduced HRQoL, possibly reflecting the ongoing effects of stigma. These findings highlight the importance of understanding changes in patient social identity for promoting long-term well-being after surgery.

Genomic analysis of “microphenotypes” in epilepsy

Large international consortia examining the genomic architecture of the epilepsies focus on large diagnostic subgroupings such as "all focal epilepsy" and "all genetic generalized epilepsy". In addition, phenotypic data are generally entered into these large discovery databases in a unidirectional manner at one point in time only. However, there are many smaller phenotypic subgroupings in epilepsy, many of which may have unique genomic risk factors. Such a subgrouping or "microphenotype" may be defined as an uncommon or rare phenotype that is well recognized by epileptologists and the epilepsy community, and which may or may not be formally recognized within the International League Against Epilepsy classification system. Here we examine the genetic structure of a number of such microphenotypes and report in particular on two interesting clinical phenotypes, Jeavons syndrome and pediatric status epilepticus. Although no single gene reached exome-wide statistical significance to be associated with any of the diagnostic categories, we observe enrichment of rare damaging variants in established epilepsy genes among Landau-Kleffner patients (GRIN2A) and pediatric status epilepticus patients (MECP2, SCN1A, SCN2A, SCN8A).

Epilepsy Community at an Inflection Point: Translating Research Toward Curing the Epilepsies and Improving Patient Outcomes.

Epilepsy Community at an Inflection Point: Translating Research Toward Curing the Epilepsies and Improving Patient Outcomes.

Highlights From AES2020, a Virtual American Epilepsy Society Experience.

Due to COVID-19 a live, in-person meeting was not possible for the American Epilepsy Society in 2020. An alternative, virtual event, the AES2020, was held instead. AES2020 was a great success with 4679 attendees from 70 countries. The educational content was outstanding and spanned the causes, treatments, and outcomes from epileptic encephalopathy to the iatrogenicity of epilepsy interventions to neurocognitive disabilities to the approach to neocortical epilepsies. New gene therapy approaches such as antisense oligonucleotide treatment for Dravet syndrome were introduced and neuromodulation devices were discussed. There were many other topics discussed in special interest groups and investigators’ workshops. A highlight was having a Nobel prize winner speak about memory processing. Human intracranial electrophysiology contributes insights into memory processing and complements animal work. In a special COVID symposium, the impact of COVID on patients with epilepsy was reviewed. Telehealth has been expanded rapidly and may be well suited for some parts of epilepsy care. In summary, the epilepsy community was alive and engaged despite being limited to a virtual platform.