Familial adult myoclonus epilepsy (FAME) management relies on antiseizure medications (ASMs), which inadequately address myoclonus and cortical tremor. This study evaluates Perampanel (PER), an AMPA-receptor antagonist, for treating FAME symptoms. Fifteen FAME2 patients participated in an observational prospective study. They received up to 6 mg daily of PER and underwent Unified-Myoclonus-Rating-Scale (UMRS) before and after treatment. Neurophysiological evaluations, including somatosensory evoked potentials (SEPs) and transcranial magnetic stimulation (TMS), assessed PER's impact on cortical glutamatergic excitatory and GABAergic inhibitory circuits. PER treatment significantly reduced UMRS total scores (p = 0.001) and action-myoclonus subscores (p = 0.002), irrespective of disease duration, age at onset, or testing time (p >0.05). Patients with more severe baseline myoclonus demonstrated significant improvements. Neurophysiological assessments revealed a PER-induced decrease in sensorimotor hyperexcitability, characterized by diminished N33 amplitudes, attenuated glutamatergic facilitation, and enhanced GABAergic inhibition in the motor cortex. In conclusion, low-dose PER is well tolerated and effective in alleviating myoclonus in FAME2 patients, supported by its modulatory effects on glutamatergic and GABAergic neuronal circuits.
Plain Language Summary: This study investigated the effects of low-dose perampanel in individuals with Familial Adult Myoclonus Epilepsy2 (FAME2), a hereditary condition characterized by epilepsy and tremors. Perampanel, an antiepileptic drug, blocks AMPA receptors in the brain, reducing excessive neural activity that causes seizures and abnormal movements. The results showed significant symptom improvement, which correlated with changes in brain activity as measured by neurophysiological tests. This study suggests that perampanel helps regulate abnormal brain signals and may help managing FAME2 symptoms.
To study the adherence of antiseizures medication in neurology in the city of Ouagadougou.
We conducted a multicentric cross-sectional study on adherence to antiseizure medications among adult patients with epilepsy followed by outpatient neurology consultations. The patients were recruited from November 22, 2021 to February 22, 2022 in four departments of neurology. Adherence to antiseizure medications (ASM) was measured using the Morisky Medication Adhesion Scale (MMAS). Logistic regression analysis was used to investigate factors associated with adherence.
One hundred and seven patients with a mean age of 38.92 ± 16.06 years were included in the study. Most of the patients were men (52.34%). Twenty-eight patients complied well with ASM (26.17%). The main causes of nonadherence to treatment were forgetfulness and lack of financial means. Factors associated with nonadherence were rural residence (p = 0.023), celibacy or divorce (p = 0.002), low level of education (p = 0.028), perception of stigma (p = 0.026), duration of epilepsy <5 years (p = 0.009).
Adherence to ASM is low in Burkina Faso. The main causes of nonadherence were forgetting and insufficiency of financial resources. Rural residence, celibacy, or divorce, low level of education, perception of stigmatization, and short duration of epilepsy were associated with non-adherence.
Studies on adherence to antiseizure medications are rare in Africa while patients do not have access to adequate treatment. The aim of our study was to evaluate the adherence to antiseizure medications among patients with epilepsy followed by the neurology departments in the city of Ouagadougou. Forgetfulness and financial insufficiency were the main causes of treatment interruption. Our study showed that most of the patients were non adherent. Several factors such as place of residence, level of education, and duration of epilepsy influence the level of compliance.
The primary objective of this retrospective analysis was to evaluate the incidence and lateralization value of peri-ictal yawning (PY) in people with temporal lobe epilepsy (TLE). PY has only occasionally been reported as a manifestation of focal epilepsy. We aimed to determine whether PY could serve as an indicator to help lateralize seizure onset during epileptic seizures.
Among 236 consecutive TLE patients admitted for video-EEG monitoring, we analyzed the clinical characteristics, along with scalp video-EEG, magnetic resonance imaging (MRI), fluorodeoxyglucose-positron emission tomography (FDG-PET), Wada test, and stereo EEG (SEEG) in patients with PY.
Among the 236 patients, 26 (11.0%) exhibited PY, and 36 of 1018 recorded seizures (3.5%) were associated with PY. Of the 26 patients with PY, 19 (73.1%) had non-dominant TLE, while 7 (26.9%) had dominant TLE. The majority of these patients presented with staring, arrest, and automatisms during their seizures with accompanying vegetative signs. PY occurred either during the ictal or postictal phase in all patients. Exception for 10 seizures (10/36, 27.8%) at the early stage (less than 25% total duration), PY was primarily linked to the late ictal and postictal phases. Surgical intervention was performed in 12 patients, 9 of whom (75%) achieved seizure freedom (Engel class I), with 7 of these 9 (77.8%) having non-dominant TLE.
Yawning is a physiological phenomenon typically not associated with epilepsy. The present series suggests that PY is relatively uncommon in TLE, but may represent a rare vegetative sign, particularly in cases with non-dominant TLE. Further investigation with a larger cohort of surgically confirmed cases and using intracranial EEG is essential to deepen our understanding of this phenomenon.
Yawning is a typical physiological response that is generally not linked to epilepsy. However, it can occasionally indicate seizure activity, particularly in TLE. PY happens more often observed in non-dominant TLE and usually occurs in the later stages of a seizure or just after it. It may hold potential as a lateralizing marker in TLE.
Despite the recognition of Sudden Unexpected Death in Epilepsy (SUDEP) and other risks of premature mortality in people with epilepsy (PWE), mortality in older PWE remains an understudied entity. This review provides a comprehensive overview of the multifaceted causes of premature mortality in older adults with epilepsy and emphasizes the need for targeted interventions to reduce mortality and enhance the quality of life in this vulnerable population. It underscores the heightened prevalence of epilepsy among older adults and the interplay of intrinsic and extrinsic factors contributing to their mortality. Further, this paper delves into the nuances of diagnosing SUDEP in older adults and the underestimation of its incidence due to misclassification and lack of standardized protocols. Factors such as frailty, comorbidities, and the bidirectional relationship between epilepsy and conditions such as dementia and stroke further compound the mortality risks. Key factors, including status epilepticus, comorbid conditions (such as cardiovascular diseases, cerebrovascular events, and neurodegenerative disorders), and external causes like accidents, falls, and suicide, are discussed. It also examines the implications of anti-seizure medications, particularly polypharmacy, and their adverse effects on this population. Future directions include implementing enhanced diagnostic protocols, developing treatment plans, and integrating real-time monitoring technologies to reduce the risk of sudden death and multifaceted premature mortality in this patient population. Increasing awareness among healthcare providers and families about the risks and management of epilepsy in older adults, along with fostering collaborative research efforts, is essential to improve mortality outcomes.
There is a heightened risk of mortality in older people with epilepsy due to many causes unique to their population. Despite the risk, Sudden Unexpected Death in Epilepsy and early mortality in older adults with epilepsy are underestimated. Unique contributing factors include comorbid conditions like dementia, stroke, and frailty, adverse effects from polypharmacy, and increased risks of cardiovascular complications and external injuries such as falls and suicide. A careful consideration of all these factors can help mitigate the mortality in older adults with epilepsy.
Considering the peculiar challenges with infantile epileptic spasms syndrome (IESS) in South Asia and a wide variation in the usage of hormonal therapies, we compared the efficacy and safety of various hormonal therapies for children with IESS in South Asia. We searched PubMed, Embase, Scopus, and Web of Science databases from the inception until April 2024. We included only randomized clinical trials (RCTs) evaluating the efficacy and safety of hormonal therapies for IESS in the South Asian region. Complete cessation of epileptic spasms (ES), electro-clinical response, and time taken to be spasm-free at 2 or 6 weeks of therapy were efficacy outcomes, while the occurrence of adverse events was the safety outcome. Effect estimates were reported as odds ratio (OR) or mean difference (MD) with 95% confidence intervals (CI) and Cochrane risk of bias 2.0 (ROB 2.0) used for quality assessment of each study. The surface under the cumulative ranking curve (SUCRA) was used to rank the different therapies and reported as a p-score ranging from 0 to 1. Of 747 citations, nine RCTs comprising 566 children with IESS were included. After 2-week treatment, dexamethasone (OR: 6.72; 95% CI: 1.47, 30.72), adrenocorticotropic hormone therapy (ACTH) high dose (HD) (OR: 5.30; 95% CI: 1.05, 26.91), and prednisolone HD (OR: 2.41; 95% CI:1.07, 5.46) had shown significantly greater efficacy for cessation of EScompared with ACTH low dose (LD). Similarly, for electroclinical response, dexamethasone (OR: 9.63; 95% CI: 1.99, 46.70) and prednisolone HD (OR: 3.46; 95% CI: 1.38, 8.68) had greater efficacy compared with ACTH LD. Safety outcomes revealed that hypertension was significantly less common with ACTH LD and prednisolone HD as compared with ACTH HD. This study provides quality evidence on preferred first-choice hormonal therapy for managing IESS in South Asia. ACTH HD, dexamethasone, and prednisolone HD are the most effective hormonal therapy options with dose-dependent therapeutic efficacy.
This study provides insights into the selection of first-line hormonal therapies among the various treatments for managing infantile epileptic spasms syndrome (IESS) in South Asia. The study findings suggested that the effectiveness of these therapies is dose-dependent, with high doses of ACTH, dexamethasone, and prednisolone being the most effective for achieving cessation of epileptic spasms.
Functional magnetic resonance imaging (fMRI) offers an alternative to the traditional Wada test for presurgical language and memory lateralization that carries almost no risk. However, fMRI lateralization of episodic memory remains challenging because the hippocampus, which is fundamental to episodic memory, is smaller, more prone to susceptibility artifact, and harder to functionally modulate than language regions. We previously showed that a complex scene memory task can lateralize memory function in the mesial temporal lobe. Using data acquired from N = 45 patients with temporal lobe epilepsy acquired with an improved stimulus paradigm and high-resolution fMRI, we now demonstrate that memory activation can be successfully lateralized within hippocampus proper.
Epilepsy surgery can improve seizure control in patients with temporal lobe epilepsy (TLE) that cannot be controlled with medications also, but ablation or removal of temporal lobe brain tissue can also cause cognitive deficits. Functional MRI (fMRI) can noninvasively map brain activation and perform well in lateralizing and localizing language function, but localizing and lateralizing memory function is more challenging. Building upon prior work using complex scene encoding to map memory function, we demonstrate that the use of high-resolution fMRI along with an optimized task paradigm allows memory activation to be detected within the hippocampus. Because the hippocampus is both a common site of TLE and a key region underlying memory, this approach is expected to contribute to presurgical evaluation of TLE.
Epilepsy is a chronic neurological disorder related to various etiologies, and the prevalence of active epilepsy is estimated to be between 4 and 10 per 1000 individuals having a significant role in genetic mutations. Next-Generation Sequencing (NGS) panels are utilized for genetic testing, but a substantial proportion of the results remain uncertain and are not considered directly causative of epilepsy. This study aimed to reevaluate pediatric patients diagnosed with epilepsy who underwent genetic investigation using NGS panels, focusing on inconclusive variant findings or multiple variants of uncertain significance (VUSs).
A subgroup of pediatric patients aged 0–25 years, diagnosed with epilepsy, who underwent genetic investigation with an NGS epilepsy panel at the Child Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, between 2018 and 2022 through Invitae, was reevaluated. Patients with inconclusive variant findings or multiple VUSs in their test results were included. Genetic data were analyzed to identify potentially pathogenic variants and frequent genetic combinations.
Two unrelated potentially pathogenic variants were identified in the SCN9A and QARS1 genes. A frequent genetic combination, RANBP2&RYR3, was also observed among other combinations. The RANBP2 gene consistently co-occurred with RYR3 variants in uncertain results, suggesting potential pathogenicity. Analysis of unaffected parents' data revealed certain combinations inherited from different parents, suggesting specific gene combinations as possible risk factors for the disease.
This study highlights the importance of reevaluating genetic data from pediatric epilepsy patients with inconclusive variant findings or multiple VUSs. Identification of potentially pathogenic variants and frequent genetic combinations, such as RANBP2&RYR3, could aid in understanding the genetic basis of epilepsy and identifying potential hotspots.
We have performed a retrospective analysis on a subpopulation of pediatric patients diagnosed with epilepsy. We found that specific genetic variants were repeatable, indicating their potential pathogenicity to the disease.
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