Occipital lobe epilepsy (OLE) accounts for 5%-10% of all focal epilepsy cases. Ictal clinical symptoms mainly include visual and ocular movements, with common and specific elementary visual hallucinations. Electroencephalography has certain limitations, and a well-localized unifocal rhythmic ictal discharge during seizure is infrequent on ictal EEG. Detailed preoperative evaluation, especially the evaluation of symptoms and intracranial EEG monitoring, can help to obtain good outcomes after surgical treatment.
This study summarizes the prognosis of epilepsy and related influencing factors in patients with different conditions of epilepsy (after first seizure, refractory epilepsy, and after surgical treatment). The risk of recurrence was 40%-50% after the first unprovoked seizure, with the risk factors including childhood, history of brain injury, electroencephalographic abnormalities, abnormal brain imaging, and nocturnal seizures. Although immediate medication after the first seizure can reduce the risk of short-term recurrence, there was no significant difference in long-term (over 3 years) seizure-free rate between the delayed treatment (till the second seizure) group and the immediate treatment group. About one-third of patients may progress to intractable epilepsy and have a poor prognosis after anti-seizure medication therapy. Surgical treatment is currently an important treatment regimen to improve the prognosis of patients with intractable epilepsy, and it can significantly improve the prognosis of such patients, with a particularly notable effect in pediatric patients. Preoperative assessment techniques, such as structural connectivity analysis based on diffusion MRI, machine learning models incorporating clinical variables, and computational models based on interictal EEG, can help to predict the optimal resection site, thereby improving the postoperative outcomes of patients. Finally, the integration of big data and omics technology is expected to achieve precise and individualized prognosis prediction and clinical decision-making, promoting the precise long-term management of epilepsy and improving the prognosis of patients.
Post-stroke epilepsy (PSE) is one of the most common complications of stroke and represents a leading cause of secondary epilepsy in adults. Its development follows a well-defined temporal sequence, progressing through stroke onset, latent phase remodeling, and eventual seizure manifestation. PSE is classified into early- and late-onset types based on the timing of seizures. The former is associated with acute injury, while the latter involves chronic reorganization of neural networks. During the latent phase, the brain exhibits pathological changes such as disrupted synaptic plasticity, inflammatory activation, oxidative stress accumulation, and blood-brain barrier disruption, offering a critical window for therapeutic intervention. However, conventional antiseizure medications, which primarily inhibit abnormal neuronal discharges, are insufficient to reverse the underlying pathogenesis and show limited preventive efficacy. Against this backdrop, the concept of disease-modifying treatment (DMT) has gained traction. DMT underscores mechanistic, targeted, and early-stage interventions that prioritize core processes such as inflammation, synaptic remodeling, ferroptosis, and miRNA regulation. Due to its predictability and ease of modeling, PSE serves as an ideal platform for DMT research. Emerging strategies encompass small-molecule drugs, stem cell transplantation, epigenetic modulation, and neuromodulation, some of which have shown promising results in animal models. This review systematically summarizes the pathogenesis of PSE and recent advances in DMT approaches, providing a theoretical foundation and practical guidance for clinical interventions.
Temporal lobe epilepsy is the most common type of focal medically intractable epilepsy. Seizures with involvement of the basal temporal region are extremely rare, and there is still a lack of understanding of their characteristics. The basal temporal region is divided into the olfactory cortex (including the perirhinal cortex and the entorhinal cortex), the parahippocampal gyrus, and the fusiform gyrus. The ictal symptoms of basal temporal lobe epilepsy include naming dysfunction, comprehension deficit, spontaneous speech, vocal automatism, and dé jà vu. Anterior temporal lobectomy is recommended due to extensive epileptogenic areas.
Epilepsy is a chronic neurological disease characterized by abnormal synchronous discharges of brain neurons. The mutation of GRIN1, a key gene encoding the essential GluN1 subunit of N-methyl-D-aspartate (NMDA) receptors, is closely associated with the pathogenesis and progression of epilepsy. This review summarizes research advances in GRIN1 mutation-related epilepsy, with a focus on its molecular mechanisms, clinical phenotypes, factors influencing phenotypic heterogeneity, and treatment strategies. In terms of molecular mechanisms, GRIN1 mutations affect NMDA receptor function through gain-of-function and loss-of-function mechanisms. Clinical phenotypes show significant heterogeneity, including seizure types, age of onset, and comorbid neurodevelopmental disorders. This heterogeneity may be related to the domain where the mutation is located, the mutation type, and the degree of impact on receptor function. Regarding treatment, gain-of-function mutations can be managed with NMDA receptor antagonists, while loss-of-function mutations may be treated with positive allosteric modulators. The ketogenic diet has also demonstrated potential therapeutic effects. This review aims to provide references for basic research and clinical translation in GRIN1 mutation-related epilepsy, and to promote the development of precision diagnosis and treatment.
Objective To investigate the influence of comorbidities on the prognosis of patients with status epilepticus, to develop Improved Comorbidity Burden Index (ICBI) based on Comorbidity Burden Index (CBI), and to analyze the practicality of ICBI in assessing nonconvulsive status epilepticus in western China.Methods A total of 396 patients with status epilepticus who were treated in Department of Neurology, Intensive Care Unit, and Emergency Department, West China Hospital, Sichuan University, from December 2016 to December 2022 were enrolled, and all patients met the latest diagnostic criteria for status epilepticus issued by the International League Against Epilepsy (2015 edition). SPSS 22.0 was used to perform a statistical analysis, and a Logistic regression analysis was used to investigate the influencing factors for in-hospital death and poor prognosis (with a Glasgow Outcome Scale score of 1-3). CBI score was modified into ICBI score, with the addition of three comorbidities (immune system disorder, thyroid dysfunction, and hypoproteinemia) and consolidation of overlapping items, and the total score was calculated with each comorbidity contributing 1 score. The MedCalc-generated receiver operating characteristic (ROC) curve was used to analyze predictive value, and the area under the ROC curve (AUC) was used to reflect the diagnostic value of ICBI scale.Results Among the 396 patients with status epilepticus included in the study, 43 (10.9%) died in hospital and 114 (28.8%) had a poor prognosis. Digestive system diseases, respiratory system diseases, kidney and urinary system diseases, electrolyte/acid-base imbalance, infection, and immune system disorders were risk factors for in-hospital death of patients with status epilepticus. Digestive system diseases, respiratory system diseases, kidney and urinary system diseases, electrolyte/acid-base imbalance, hypoglycemia/hyperglycemia, infection, coagulation and blood disorders, nervous system disease, cardiovascular diseases, musculoskeletal disorders, and immune system disorders were risk factors for poor prognosis in patients with status epilepticus. The ROC curve analysis showed that ICBI>3 had an AUC of 0.914 in predicting in-hospital death, with a specificity of 71.37% and a sensitivity of 97.67% (P<0.000 1), and ICBI>3 had an AUC of 0.882 in predicting poor prognosis, with a specificity of 81.56% and a sensitivity of 79.82% (P<0.000 1). There were 327 patients with convulsive status epilepticus, among whom 41 patients died, and ICBI>3 had an AUC of 0.915 in predicting in-hospital death (P<0.000 1). There were 100 patients with a poor prognosis, and ICBI>3 had an AUC of 0.867 in predicting poor prognosis (P<0.000 1).Conclusion The in-hospital mortality rate is 10.9% in patients with status epilepticus in Sichuan, China, and ICBI>3 has a certain value in predicting in-hospital death and poor prognosis in patients with status epilepticus. There is no significant difference in ICBI score between convulsive status epilepticus and nonconvulsive status epilepticus.
Nonconvulsive status epilepticus (NCSE) is a state of persistent epileptic seizure characterized by disturbance of consciousness or major neurological deficits, without obvious limb convulsions. Due to a lack of obvious clinical manifestations and the potential risk of neurological damage, current research focuses on rapid identification, accurate classification, and optimization of treatment strategies. Since there is a lack of obvious motor symptoms in NCSE, it is difficult for clinicians to quickly identify the disease through traditional signs, which poses great challenges to diagnosis, and underdiagnosis may lead to delayed treatment and poor prognosis. This article systematically reviews the epidemiological characteristics, clinical manifestations, and key diagnostic points of NCSE and discusses existing treatment regimens and prognosis, in order to provide a reference for clinical practice.
Objective To summarize the clinical features of epileptic patients with visual hallucination as the main ictal symptom.Methods The epileptic patients with visual hallucination as the main feature who were admitted to Peking University First Hospital were enrolled, and clinical data were collected for descriptive analysis.Results Five epileptic patients were enrolled, among whom there were two patients with simple visual hallucination and three patients with complex visual hallucinations. Three patients were found to have intracranial space-occupying lesions, one with a left occipital vascular malformation, one located subcortically in the right posterior temporal region, and one in the anterior temporal area.Conclusion Epileptic seizures with visual symptoms are relatively uncommon in clinical practice, and this study reports five epileptic patients with the main symptom of classic visual hallucination, in order to improve the diagnosis and treatment of such diseases among clinicians.
Objective Idiopathic rolandic epilepsy syndrome (IRES) is the most common epilepsy syndrome in childhood, and its lesion site remains undetermined. This article aims to investigate the source of epileptiform discharges in IRES using magnetoencephalography (MEG).Methods A total of 70 patients with IRES were enrolled in this prospective MEG-based study, among whom there were 53 children with benign epilepsy of childhood with centrotemporal spikes (BECTS), 12 children with atypical benign partial epilepsy (ABPE), 3 children with Landau-Kleffner syndrome (LKS), and 2 children with epileptic encephalopathy with continuous spike-and-waves during slow-wave sleep (CSWS). Epileptiform discharges were collected independently from each patient 10 times, and an MEG source analysis was performed. Standardized low-resolution brain electromagnetic tomography was used to perform source localization of the distributed source model. The spike source density was quantified into amplitude, and source location was determined according to the Desikan-Killiany atlas. The association between the distribution of spike source in brain and clinical manifestations was analyzed.Results In IRES, there were significant differences in the source locations of epilepsy discharge between BECTS, ABPE, LKS, and CSWS. The current source density of CSWS was stronger in the frontal lobe, the temporal lobe, and the anterior cingulate gyrus, while that of ABPE was stronger in the frontal lobe, and that of BECTS and LKS were stronger in the temporal lobe. The more severe phenotype of epilepsy, such as generalized tonic-clonic seizure, was associated with a stronger current source density in the brain, which was consistent with electroencephalography manifestations.Conclusion This study identifies different sources of epileptiform discharges in IRES. The density distribution of these spike sources may help to explain the discharge, cognitive, and neuropsychological characteristics in different subtypes of IRES.
Objective To investigate the influence of repeated open field tests, novel object recognition tests, and Barnes maze behavioral tests within a short term on cognitive and anxiety assessment in 3xTg-AD mice.Methods Four groups of 3xTg-AD mice, aged 12 months, were obtained using different pretreatment regimens, and the mice in the experimental groups 1-3 were treated with different drugs, while those in the control group were treated with normal saline. The open field test, the novel object recognition test, and the Barnes maze test were performed on mice successively. A behavioral video analysis system was used to record the locomotor trajectories of the mice and analyze the parameters such as time spent in the central area, exploration time for novel versus familiar objects, and latency to reach the target hole. After one session of complete tests, three sessions were performed repeatedly, and all tests were completed within one month.Results With the increase in the number of repeated tests, there was a significant reduction in the time spent in the central area in the open field test (P<0.05); in the novel object recognition test, there was an increase in the coefficient of variation for object recognition index and a reduction in exploratory behavior towards both the new environment and the novel objects; in the Barnes maze test, there was no significant difference in the latency to reach the target hole across the four tests, suggesting good reproducibility.Conclusion Repeated tests within a short term can interfere with the evaluation of anxiety status in 3xTg-AD mice in the open field test and their preference for novel objects in the novel object recognition test, but it has no obvious influence on the latency to reach the target hole in the Barnes maze test. Whether behavioral tests can be performed repeatedly in 3xTg-AD mice should be determined based on different tests.
Objective To investigate the characteristics of smooth pursuit eye movement and optokinetic nystagmus on videonystagmography in patients with multiple system atrophy, cerebellar type (MSA-C), and to provide electrophysiological information for the early diagnosis of MSA-C.Methods A total of 30 patients with MSA-C who were diagnosed and treated in Department of Neurology, Xuanwu Hospital, Capital Medical University, from May 2022 to December 2023 were enrolled as subjects (MSA-C group), and 30 healthy individuals were enrolled as control group. The parameters of smooth pursuit eye movement and optokinetic nystagmus were analyzed for the 30 patients with MSA-C. The parameters of smooth pursuit eye movement included waveform, velocity-dependent gain, left-right gain balance, and comparison of waveform abnormality rates versus gain abnormality rates, and the parameters of optokinetic nystagmus included direction, slow phase velocity (SPV) symmetry, and mean gains across different velocities; a comparative analysis was performed for the proportion of patients with optokinetic nystagmus gain abnormalities and those with smooth pursuit gain abnormalities.Results Compared with the control group, the MSA-C group had a significantly higher proportion of patients with abnormal waveforms in smooth pursuit test (90.0% vs 13.3%) and significantly lower mean smooth pursuit gains of 20°/s and 40°/s, and such different became more significant with the increase in velocity. There was no significant difference in mean smooth pursuit gain between the MSA-C patients with different velocities, and among the MSA-C patients, the patients with waveform abnormalities accounted for a significantly higher proportion than those with gain abnormalities (90.0% vs 16.7%). The patients with MSA-C had normal direction and bilateral SPV symmetry for optokinetic nystagmus, and the MSA-C group had significantly lower mean gains across different velocities than the control group. Among the MSA-C patients, the patients with a reduction in optokinetic nystagmus gain accounted for a significantly higher proportion than those with a reduction in smooth pursuit gain.Conclusion Compared with the control group, the patients with MSA-C had a reduction in smooth pursuit gain, which became more significant with the increase in velocity. In patients with MSA-C, abnormal smooth pursuit waveforms were more sensitive than gain reduction and may serve as an electrophysiological indicator for the early diagnosis of MSA-C. Compared with the control group, the patients with MSA-C had a reduction in optokinetic nystagmus gain, which was more sensitive than smooth pursuit gain reduction. In conclusion, waveform abnormalities in smooth pursuit test and the reduction in optokinetic nystagmus gain are important electrophysiological indicators for the early diagnosis of MSA-C.
Objective To investigate the efficacy of traditional Chinese medicine in the treatment of multiple system atrophy and orthostatic hypotension. Method The patients with multiple system atrophy and orthostatic hypotension who attended the outpatient service were enrolled and treated with a self-made prescription, Tiaoxin Zhengya Decoction, and their treatment outcome was observed. Result After taking the medication, the patients showed a trend of increase in systolic pressure and a trend of stability or reduction in diastolic pressure. The patients showed significant changes in diastolic pressure in the supine position, systolic pressure in the supine position, diastolic pressure in the sitting position, systolic pressure in the sitting position, and systolic pressure in the standing position after getting up in the morning, while there were no differences when they went to bed at night. Conclusion Traditional Chinese medicine has good efficacy in the treatment of multiple system atrophy and orthostatic hypotension.
Anti-metabotropic glutamate receptor 5 (mGluR5) encephalitis is a rare form of autoimmune encephalitis in clinical practice. This article reviews the clinical data of a patient with anti-mGluR5 encephalitis secondary to herpes simplex virus encephalitis (HSE) and summarizes the clinical data of 39 patients with anti-mGluR5 encephalitis from domestic and international databases. This article discusses the clinical features of patients with anti-mGluR5 encephalitis and conducts a literature review to summarize the latest research advances in anti-mGluR5 encephalitis, in order to improve the understanding of this rare disease among clinicians.
IgG4-related disease (IgG4-RD) is an idiopathic fibroinflammatory condition characterized by a predilection for tumor-forming lesions, an increase in the serum level of IgG4, excessive infiltration of IgG4-positive plasma cells, storiform fibrosis, and/or obliterative phlebitis. This article reports a rare case of IgG4-RD in which the patient developed recurrent transient ischemic attacks (TIA) after the diagnosis of IgG4-RD. This report explores the potential pathological mechanisms, clinical features, treatment, and prognosis of IgG4-RD with TIA, in order to enhance the awareness of the possible neurological complications associated with IgG4-R among clinicians.
RNA splicing is an essential cellular process in which a series of protein-nucleic acid complexes cut and splice the products of gene transcription to generate mature RNA, and it plays an important role in maintaining the normal life activities of cells. Extensive studies have shown that proteins and nucleic acids associated with RNA splicing undergo the pathological changes such as aggregation in neurodegenerative diseases, and inadequate RNA splicing is observed in lesions. Genetic alterations within RNA splicing-related genes can cause neurodegenerative diseases. All these findings suggest that abnormalities in RNA splicing pathways may play a significant role in the pathogenesis of neurodegenerative diseases. This article reviews the research advances in the alterations of RNA splicing in common neurodegenerative diseases in terms of histopathology, biochemistry, and genetics, as well as related cell biology and animal models, in order to clarify their role in the pathogenesis of neurodegenerative diseases.
Cardioembolic stroke is a special type of ischemic stroke caused by cardiac diseases, and its development is closely associated with the structural and functional abnormalities of the heart. The pathophysiological mechanisms of this type of stroke are complex. It is often induced by thrombosis due to cardiac diseases, followed by thrombus detachment and entry into cerebral vessels, leading to ischemic injury and subsequent cascade reactions. Inflammatory response plays a crucial role in the development and progression of cardioembolic stroke, being involved in processes ranging from thrombosis to acute-phase brain injury after embolism, short-term neurological recovery, and long-term prognosis prediction, and can also be used as a biomarker and diagnostic factor. This article summarizes the mechanism by which inflammation contributes to the development and progression of cardioembolic stroke, as well as the current research advances in the etiology of cardioembolic stroke, the recovery of neurological function after stroke, and personalized treatment strategies.