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There are few data on adults living with tuberous sclerosis complex (TSC), with most studies focusing on pediatric populations. The objective of our study was to examine a large national cohort of adults with TSC, and to describe the clinical characteristics of these adults and the nature of the multidisciplinary care that they receive.Six Canadian medical centers collaborated in this study. Data were collected using a standardized form, and descriptive statistics were used for the analyses.Our study included 181 adults with definite TSC (mean age = 33.6 years [SD = 13.7]). More than 40% (n = 75) had family members affected by TSC. Forty-six percent (n = 83) of individuals had intellectual disability. Nearly 30% (n = 52) of individuals reported living alone or with a partner/spouse. Seventy-six percent (n = 138) of people had epilepsy, 43% (n = 59) of whom had drug-resistant epilepsy, and 21% (n = 29) had undergone epilepsy surgery. Neuropsychiatric disease (n = 128) and renal angiomyolipomas (n = 130) were both present in approximately 70% of people. Renal imaging was performed in 75.7% (n = 137) of participants within the past 3 years. Renal and pulmonary function tests, as well as electrocardiograms, were recently performed in a minority of individuals.Our cohort of adults with TSC showed that an important proportion have a milder phenotype, and are more frequently familial, as compared to children with TSC (and differing from prior reports in adult cohorts). Drug-resistant epilepsy, neuropsychiatric comorbidities, and renal angiomyolipoma are challenging factors in adults with TSC. Our participating medical centers generally followed recommended screening strategies, but there remain important gaps in care. Multidisciplinary and structured TSC care centers offering service to adults may help to improve the health of this important patient population.

Patients with epilepsy are at elevated risk for premature mortality, of which sudden unexpected death in epilepsy (SUDEP) is one of the leading causes. SUDEP incidence varies significantly depending on the population and the methods used to document the cause of death. We performed retrospective case review at the London Health Sciences Centre for the period of 2000 to 2018. Clinical information, scene investigations, general pathology findings, toxicology, and neuropathology findings were obtained, examined, and confirmed by two neuropathologists and one epileptologist. The characteristics were compared and summarized. We also evaluated the impact of 2010 revision of Ontario Coroner Act Regulation, which significantly limited whole brain examination. Among the 12,206 cases reviewed, we identified 152 cases with a known history of epilepsy. Ninety-seven cases (64%) were classified as SUDEP. There were significantly more SUDEP decedents found dead unwitnessed at night in prone position, than non-SUDEP. Generalized seizures were strongly associated with SUDEP. A male predominance was observed in SUDEP group between 15 and 35 years old. Near half of the brains examined were "unremarkable." There was no difference in neuropathology findings between SUDEP and non-SUDEP groups. After implementation of the 2010 revision of Ontario Coroner Act Regulation, fixed whole brain examination was reduced from 88% to 7% of the epilepsy-related death investigation. Except a lower diagnosis rate of "inflammatory/infectious changes," there were no significant differences in neuropathology findings. This is the first detailed clinical-pathological study on epilepsy-related death based on a Canadian cohort. This study reinforces the previously reported findings in SUDEP and highlights the importance of clinicopathological correlation for accurate classification of epilepsy-related death.

Las crisis epilépticas son una causa frecuente de consulta en la emergencia y en la atención ambulatoria. La evaluación de una primera crisis epiléptica reviste gran trascendencia en este contexto, ya que la ocurrencia de ésta no implica necesariamente el diagnóstico de epilepsia (dos o más crisis no provocadas separadas por más de 24 horas; una crisis única con alto riesgo de recurrencia (>60%); o la evidencia de un síndrome epiléptico – definición de la Liga Internacional para la Lucha Contra la Epilepsia, ILAE) y el tratamiento subsecuente. Por otro lado, no todo paciente con primera crisis debe ser dejado en observación sin recibir el manejo apropiado. Esta decisión está en función del riesgo de recurrencia de crisis. Para ello, la Academia Americana de Neurología (AAN de sus siglas en inglés) recomienda la clasificación de la primera crisis epiléptica en cinco grupos y dependiendo del riesgo de recurrencia de crisis establecido para cada uno de ellos, se tendrá una guía para proceder o no con el tratamiento antiepiléptico. Los grupos son: pacientes con crisis epiléptica provocadas; pacientes con crisis sintomáticas agudas; pacientes con crisis sintomática remotas; primera crisis asociada a síndromes epilépticos; primera crisis de causa desconocida. La guía publicada por AAN en el 2015 para el manejo de primera crisis, sugiere que los pacientes con crisis sintomáticas remotas (lesiones cerebrales pasadas no evolutivas), pacientes con anormalidades epileptiformes interictales; pacientes con estudios de imagen anormales (RMN y TC); y pacientes con crisis nocturnas, tienen un riesgo elevado para recurrencia de crisis (>60%) por lo que deben ser tratadas. La evidencia disponible a la fecha sugiere también que no hay diferencia significativa en el inicio precoz o diferido del tratamiento antiepiléptico para el control de las crisis a largo plazo.

Objective:To describe the experience with Anterior Nucleus of the Thalamus-Deep Brain Stimulation (ANT-DBS) for the treatment of epilepsy at a Canadian Center.Methods:All patients who underwent ANT-DBS implantation between 2013 (first patient implanted at our center) and 2020 were included. These patients had therapy-resistant epilepsy (TRE), were not candidates for resective surgery, and failed vagus nerve stimulation (VNS) treatment. Baseline of monthly seizure frequency was calculated within 3 months prior to VNS placement. Monthly seizure frequency was assessed at different points along the timeline: 3 months before ANT-DBS implantation as well as 3, 6, 12, 24, 36, 48, 60, and 72 months after ANT-DBS device placement. At each time point, seizure frequency was compared to baseline.Results:Six patients were implanted with ANT-DBS. Three (50%) patients had multifocal epilepsy, one (16.6%) had focal epilepsy, and two (33.4%) had combined generalized and focal epilepsy. Two patients with multifocal epilepsy experienced a seizure reduction >50% in the long-term follow-up. Three (50%) patients did not showed improvement: two with combined generalized and focal epilepsy and one with focal epilepsy. There were not surgical or device-related side effects. Two (33.3%) patients presented mild and transient headaches as a stimulation-related side effect.Conclusion:ANT-DBS is an effective and safe treatment for focal TRE. Our experience suggests that patients with multifocal epilepsy due to regional lesion may benefit from ANT-DBS the most. Further investigations are required to determine optimal parameters of stimulation.

Introduction: Epilepsy is most frequent in children and elderly people. Today's population is ageing and epilepsy prevalence is increasing. The type of epilepsy and its management change with age. Methods: We performed a retrospective, observational study comparing patients aged ≥ 65 years with epilepsy diagnosed before and after the age of 65, and describing epilepsy characteristics and comorbidities in each group. Results: The sample included 123 patients, of whom 61 were diagnosed at < 65 years of age (group A), 62 at ≥ 65 of age (group B). Sex distribution was similar in both groups, with 39 men (62.9%) in group A and 37 (60.7%) in group B. Mean age was 69.97 ± 5.6 years in group A and 77.29 ± 6.73 in group B. The most common aetiology was unknown in group A (44.3%, n = 27) and vascular in group B (74.2%, n = 46). History of stroke was present in 12 patients from group A (19.7%) and 32 (51.6%) in group B. Antiepileptic drugs were prescribed at lower doses in group A. Statistically significant differences were found between groups for history of ischaemic stroke, cognitive impairment, psychiatric disorders, and diabetes mellitus; degree of dependence; and number of antiepileptic drugs. Conclusion: Age of onset ≥ 65 years is closely related to cardiovascular risk factors; these patients require fewer antiepileptic drugs and respond to lower doses. Some cases initially present as status epilepticus.

Background and ObjectivesPatients with epilepsy have long sought alternatives to conventional antiseizure medications (ASMs) for the treatment of their epilepsy and to improve the significant side effect burden of ASMs and comorbidities. It was established before the legalization of marijuana in Canada in 2018 that many patients with epilepsy use marijuana to treat their seizures or for recreational purposes. However, there exists no current data on the prevalence and habits of marijuana use in the Canadian epilepsy population since legalization.MethodsWe conducted a nationwide cross-sectional survey of patients recruited through health care providers or epilepsy organizations to investigate marijuana usage habits and perceptions.ResultsFrom 395 responses obtained through the survey, 221 responses stated that they used marijuana within the past year. A history of seizures for more than 10 years was noted in 50.7% (n = 148) patients with generalized seizures being the most common type (n = 169; 57.1%). Most of them (n = 154; 52.0%) had tried 3 or more ASMs, and 37.2% (n = 110) used various other treatments (ketogenic diet, vagus nerve stimulation, or resective surgery) indicating a proportion with drug-resistant epilepsy. This subgroup was more likely to have started using marijuana for drug-resistant epilepsy (p< 0.001). Current marijuana use for epilepsy management was endorsed by 47.5% (n = 116). Marijuana was “somewhat” to “very” effective at reducing seizure frequency for 60.1% (n = 123). The main side effects of marijuana were impaired thinking (n = 40; 17.17%), anxiety (n = 37; 15.74%), and altered hunger (n = 36; 15.32%). Marijuana was used at least once daily by 70.3% (n = 168) with the median amount per week being 5.0 g (IQR = 1–10), and the preferred method of consumption was smoking (n = 83; 34.7%). The participants expressed concerns regarding financial strain (n = 108; 36.5%), lack of recommendation from a doctor (n = 89; 30.1%), and lack of information (n = 56; 18.9%) surrounding marijuana use.DiscussionThis study reveals a high prevalence of marijuana use among patients with epilepsy living in Canada particularly when seizures are drug resistant. A significant proportion of patients reported improvement of seizures with marijuana use, consistent with previous studies. With the increased accessibility of marijuana, it is imperative that physicians are aware of marijuana usage habits among patients with epilepsy.

Background: Health 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. Methods: Using 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. Results: The 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. Conclusion: This 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.