Acta Epileptologica最新文献

Recently, a novel workflow known as the virtual epileptic patient (VEP) has been proposed by a research team from Aix Marseille Université in their papers published in Lancet Neurology, Science Translational Medicine and Epilepsia. This method involves creating an individualized virtual brain model based on computational modelling, which can facilitate clinical decision-making by estimating the epileptogenic zone and performing the virtual surgery. Here, we summarize brief workflow, strengths, and limitations of VEP, as well as its performance in a retrospective study of 53 patients with drug-resistant focal epilepsy who underwent stereoelectroencephalography. A large-scale clinical trial (NCT03643016) is underway to further assess VEP, which is expected to enroll 356 patients prospectively. As supporting evidence accumulates, the clinical application of VEP has the potential to improve clinical practice, leading to better outcomes and qualities of life of patients.

Epilepsy is a neurological disease characterized by excessive and abnormal hyper-synchrony of electrical discharges of the brain and a predisposition to generate epileptic seizures resulting in a broad spectrum of neurobiological insults, imposing psychological, cognitive, social and also economic burdens to the sufferer. Voltage-gated sodium channels (VGSCs) are essential for the generation and propagation of action potentials throughout the central nervous system. Dysfunction of these channels has been implicated in the pathogenesis of epilepsy. VGSC inhibitors have been demonstrated to act as anticonvulsants to suppress the abnormal neuronal firing underlying epileptic seizures, and are used for the management and treatment of both genetic-idiopathic and acquired epilepsies. We discuss the forms of idiopathic and acquired epilepsies caused by VGSC mutations and the therapeutic efficacy of VGSC blockers in idiopathic, acquired and pharmacoresistant forms of epilepsy in this review. We conclude that there is a need for better alternative therapies that can be used alone or in combination with VGSC inhibitors in the management of epilepsies. The current anti-seizure medications (ASMs) especially for pharmacoresistant epilepsies and some other types of epilepsy have not yielded expected therapeutic efficacy partly because they do not show subtype-selectivity in blocking sodium channels while also bringing side effects. Therefore, there is a need to develop novel drug cocktails with enhanced selectivity for specific VGSC isoforms, to achieve better treatment of pharmacoresistant epilepsies and other types of epileptic seizures.

Background: The relationship between serum copper and epilepsy has been elucidated in observational studies. In this study, we aimed to explore the causal relationship between serum copper and epilepsy using Mendelian randomization (MR) analysis.

Methods: Single nucleotide polymorphisms (SNPs) associated with serum copper were used as instrumental variables for MR analysis to evaluate their causal effects on epilepsy. The main MR results were obtained by using the inverse variance weighting (IVW) method, supplemented by weighted median and MR-Egger regression. In addition, sensitivity analyses such as Cochran's Q test and pleiotropy test were used to assess these SNPs on epilepsy in terms of horizontal pleiotropy and heterogeneity.

Results: The IVW method revealed that the serum copper was associated with an increased risk of generalized epilepsy (OR= 1.07; 95% CI 1.01- 1.14; P = 0.032), and the sensitivity analysis further supports the robustness of the results.

Conclusions: The current study reveals a possible causal role for serum copper in increasing the risk of generalized epilepsy, which provide guidance for identifying potential risk factors for epilepsy.

Background: Epilepsy comorbidities adversely affect the quality of life of patients. Women with epilepsy are at a high risk of comorbid endocrine disorders. Among them, the polycystic ovary syndrome (PCOS) has a threefold higher prevalence in women with epilepsy than in healthy women and is the main cause of infertility among the patients. Clinically, women with epilepsy show heterogeneity in the susceptibility to PCOS. This heterogeneity may be associated with genetic factor.

Methods: To test this, we retrospectively collected clinical data from 45 female patients with epilepsy and divided them into three groups according to their susceptibility to PCOS. Groups A and B represented a high susceptibility to PCOS. Patients in Group A were diagnosed with PCOS before their first seizure, while patients in Group B were diagnosed with PCOS after a short period of monotherapy with a low dose of antiseizure medication (ASM) following the diagnosis of epilepsy. Patients in Group C did not develop PCOS despite a prolonged treatment with high-dose ASM. We compared the clinical data and genetic profiles among the three groups.

Results: We found a clear trend of impaired metabolism in Group B patients and this may be associated with high-frequency mutations in MYO10 and ADGRL3.

Conclusions: Our study suggests that women with epilepsy are heterogeneous in the susceptibility to PCOS and this is associated with mutations in specific genes. Therefore, genetic screening should be conducted to screen for women with epilepsy who are more likely to have comorbid PCOS, so that they can receive targeted interventions at an early stage to reduce the risk.

Background: Various cardiac and autonomic manifestations are frequently reported during seizures. Among the seizure-related arrhythmia, ictal tachycardia is the most common, followed by ictal bradycardia, with ictal asystole being the rarest. The occurrence of ictal asystole may obscure the clinical presentation and delay the diagnosis, representing a life-threatening presentation of epilepsy, with an elevated risk of sudden unexpected death in epilepsy patients (SUDEP). These cardiac abnormalities are being increasingly recognized as the key to elucidating the mechanisms of SUDEP.

Case presentation: We present a 35-year-old man with a history of focal-onset seizures with impaired consciousness since his mid-20 s. He developed different types of seizures for 2 years, described as tonic seizure and atonic seizure (drop attack). During such clinical events, he suffered from falls and cardiac arrest. However, thorough cardiac electrophysiology and imaging workup failed to reveal a cardiac etiology. Subsequent video electroencephalograph (EEG) monitoring was performed, and ictal bradycardia and ictal asystole were discovered. A cardiac pacemaker was implanted, and at 3-year follow-up, the patient did not suffer more atonic seizures, or falls. Genetic tests discovered a de novo variant of Adhesion G Protein-Coupled Receptor V1 (ADGRV1), which may provide a clue for the patient's ictal asystole and the increased risk of SUDEP.

Conclusions: Considering the important impact of ictal bradycardia and asystole on the morbidity and potential mortality of epileptic patients, it is important to simultaneously utilize EEG and electrocardiogram to confirm the diagnosis. This case report highlights the link between the de novo variant of ADGRV1 and the ictal bradycardia/asystole phenotype and implicates the importance of genetic testing in adult epilepsy patients.

Background: In developing countries, there is a lack of epilepsy knowledge among health workers. The objective of this study was to assess the knowledge, attitude and practice concerning epilepsy among nurses and midwives working in primary health care settings in Ouagadougou.

Methods: We carried out a cross-sectional study in the health districts of Ouagadougou from August 1st to September 15th, 2017. All nurses and midwives working in three health districts were included in this study.

Results: A total of 213 participants with a mean age of 39.5 years were included in the survey; 79.81% of them had a general certification in secondary education and 62% had a professional experience of more than 10 years. About 99% of the participants had not received training on epilepsy-related care during the last six months. In addition, 74.5% of the participants had a good knowledge on epilepsy and 65% had a good practice toward epilepsy. The level of knowledge was associated with the workplace, years of training, and the professional experience. The level of knowledge about epilepsy was also associated with the level of education, while there was a significant link between professional status and nurses' level of practice in the management of seizures.

Conclusions: Efforts must be made to provide continuing education for nurses in order to improve their knowledge on epilepsy.

Background: Hypothalamic hamartoma (HH) is a congenital non-progressive lesion of hypothalamus during fetal development. Mass-like lesions in different anatomical locations often develop a variously disabling course presenting with cognitive decline, psychiatric symptoms, as well as multiple seizure types. As a rare disease, HH is relatively common in infants and children, but it is extremely rare in adults.

Case presentation: We reported a case of adult-onset hypothalamic hamartoma, and summarized and analyzed relevant reports and studies of HH worldwide. The patient had clinical manifestations characterized by multiple seizure forms. After stereotactic radiofrequency thermocoagulation and drug treatment, the condition was effectively controlled. The patient was followed up till October 2022, with no recurrence of seizures.

Conclusions: Epilepsy caused by HH can resemble that of temporal lobe seizures, as HH forms a complex epileptogenic network with other regions of the brain through anatomical and functional connections. Early treatment of HH can provide better control of the symptoms of epilepsy, and patients with longer disease courses may have more complications.

Background: To compare the preventive effects of levetiracetam and valproate on late-onset post-traumatic seizures in patients with traumatic brain injury (TBI).

Methods: A total of 95 patients with TBI were recruited from 2017 to 2020. They were randomized into three groups: levetiracetam (LEV) group (n = 30) receiving LEV treatment (500 mg, bid, po); valproate group (n = 32) receiving sodium valproate (500 mg/d, once daily, po); and control group (n = 33) receiving no anti-seizure medication. LEV and valproate were given to corresponding groups within seven days after TBI, and the administration lasted for one month. The incidence of epilepsy and adverse events were evaluated at 7 days and 12 months post-TBI.

Results: The cumulative incidences of late post-traumatic seizures at the 12-month follow-up in the LEV, valproate, and control groups were 3.33%, 12.50% and 15.63%, respectively. The cumulative incidence of late post-traumatic seizures in the LEV group was significantly lower than those in the valproate and control groups (P < 0.05). The cumulative incidence of late post-traumatic seizure in the valproate group was not significantly different from that in the control group (P > 0.05).

Conclusions: LEV can reduce the cumulative incidence of late post-traumatic seizures, whereas valproate can not.

The genetic generalized epilepsies (GGEs) have been proved to generate from genetic impact by twin studies and family studies. The genetic mechanisms of generalized epilepsies are always updating over time. Although the genetics of GGE is complex, there are always new susceptibility genes coming up as well as copy number variations which can lead to important breakthroughs in exploring the problem. At the same time, the development of ClinGen fades out some of the candidate genes. This means we have to figure out what accounts for a reliable gene for GGE, in another word, which gene has sufficient evidence for GGE. This will improve our understanding of the genetic mechanisms of GGE. In this review, important up-to-date genetic mechanisms of GGE were discussed.