Acta Epileptologica最新文献

Background: Rauvolfia vomitoria (R. vomitoria) is a plant of economic importance due to its diverse ethnomedicinal properties, including the anticonvulsant effect. In this study, we studied the antiseizure and neuroprotective potentials of R. vomitoria extracts against pentylenetetrazol (PTZ)-induced kindling.

Methods: Twenty-five adult Swiss mice (25-30 g) were assigned to five groups (n = 5): control group, PTZ treatment group, and PTZ treatment after receiving oral R. vomitoria crude extract (100 mg/kg), R. vomitoria phenol extract (50 mg/kg) or sodium valproate (15 mg/kg) every 48 h for 28 days. Seizure scores, cognitive behavioral tests including novel object test, Y-maze test, and the elevated plus maze test, as well as brain neurochemicals and histomorphology studies, were performed.

Results: Compared with the control group, the PTZ group showed comparable body weight and durations in closed and open arms (P > 0.05), but preference for familiar objects, significant (P < 0.05) spontaneous alternation, increased monoamine oxidase activity and nitric oxide level, and Nissl chromatolysis in the temporal lobe structures including the cortex, hippocampus, and amygdala. R. vomitoria phenol extract pretreatment significantly (P < 0.05) reduced seizures, prevented adverse cognitive behaviors, decreased the nitric oxide level, and reduced the temporal lobe Nissl chromatolysis compared with the R. vomitoria crude extract pretreatment group and the sodium valproate pretreatment groups.

Conclusions: Thus, R. vomitoria phenol extract showed promising results against seizures and potential for general brain protection, suggesting that the anticonvulsant property of R. vomitoria may be attributed to its phenol constituent. More studies are needed to delineate the mechanisms of its action.

Background: In this study, we aimed to assess the efficacy of surgical treatment in children with drug-refractory infantile epileptic spasms syndrome (IESS) and examine the factors influencing the post-surgical outcomes.

Methods: The clinical data of 30 children (18 males and 12 females) with epileptic spasms (ES) who underwent surgery at the Epilepsy Center of Shenzhen Children's Hospital between June 2018 and June 2020 were retrospectively analyzed. Post-surgical outcomes were evaluated using the Engel Epilepsy Surgery Outcome Scale. Scalp electroencephalography and developmental quotient were assessed preoperatively and postoperatively. Univariate analysis and exact logistic regression analyses were used to identify the factors affecting the postoperative efficacy.

Results: Of the 30 patients who underwent surgical resection, 22 (73.3%) achieved Engel's class I-II outcomes. Additionally, motor and cognitive functions improved in 14 patients (46.7%). The development of 12 (40%) patients remained at the preoperative development level. The median number of antiseizure medications taken preoperatively was 5.27 (range 2-10), which decreased to 1.90 (range 0-4) at the last follow-up. Seizure duration, etiology, positive positron emission tomography-magnetic resonance imaging (PET-MRI), surgery type, and lesion location were significantly correlated with the postoperative efficacy (P < 0.05). Positive PET/MRI findings and lesion location predicted independently the postoperative outcomes. Permanent impairments of motor or language function were rare, with only two cases reporting hydrocephalus and one reporting hemiplegia.

Conclusions: Surgery is an effective treatment option for children with IESS. Early referral and comprehensive preoperative evaluation are essential for identification of surgically treatable structural lesions. The primary surgically treatable cause is cortical malformation, followed by perinatal brain injury. Hemispheric disconnection is a preferred surgical approach. Positive PET/MRI findings and lesion location predicted the postoperative outcomes.

Unprovoked seizures in early life are one of the most severe conditions in pediatric neurology, and are often associated with long-lasting cognitive and behavioral deficits, as well as pharmacoresistant epilepsy in adulthood in some conditions. Unillustrated mechanisms greatly restrict the development of preventive strategies for early-life seizures (ELSs) related neuronal impairments. The recent groundbreaking study published in The Journal of Clinical Investigation represents a giant leap forward in understanding the complex pathogenesis mechanism and developing targeted therapies for ELS related neuronal impairments. The authors conducted elegant experiments to locate the activated pyramidal neuron subpopulation in the hippocampus and demonstrated the altered functions of (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid)-type glutamate receptors (AMPARs). And we believe that the conclusions of this study may assist in further translational efforts to identify preventive targets for neurological disorders associated with early life seizures and propose new avenues for further exploration in this field.

Background: Previous studies have found that patients with epilepsy are more likely to suffer impulsivity. However, the causal relationship between impulsivity and epilepsy is unknown. In this study, we conduct a bidirectional Mendelian randomization (MR) study to explore the causal relationship between impulsivity and epilepsy with recurrent seizure.

Methods: Data of the genome-wide association studies (GWAS) on 14 impulsivity traits and epilepsy were obtained from the GWAS catalog and UK Biobank. Inverse-variance weighted (IVW) and weighted median (WM) methods were utilized for MR estimates. IVW, MR-Egger regression, and MR-pleiotropy residual sum and outlier (MR-PRESSO) methods were used to assess heterogeneity and pleiotropy.

Results: Single-nucleotide polymorphisms (SNPs) related to the lack of perseverance were associated with a decreased risk of epilepsy with recurrent seizures according to the results of IVW (odd ratio [OR] = 0.93, 95% confident interval [CI] = 0.90-0.97, P = 0.001) and WM (OR = 0.93, 95%CI = 0.87-0.98, P = 0.007). Meanwhile, heterogeneity was not observed with a Cochran Q-derived P value of 0.819 for MR egger and a P value of 0.808 for IVW. Pleiotropy was not found according to the MR-PRESSO (P = 0.273). The other 13 impulsivity traits had no causal effect on epilepsy with recurrent seizures. Meanwhile, SNPs related with epilepsy with recurrent seizures had no causal effect on the 14 impulsivity traits.

Conclusions: This MR study suggests that lack of perseverance may be a protective factor against epilepsy with recurrent seizures. However, epilepsy with recurrent seizures does not affect impulsivity.

Background: Visual perception of face images or face pareidolia can be evaluated with event-related potentials (ERP) for healthy subjects and patients with neurological conditions. In this study, we aimed to analyse event-related potential components such as P100, N100, N170, and vertex-positive potential (VPP) in response to face pareidolia perception in temporal lobe epilepsy (TLE) patients.

Methods: ERPs were recorded during the pareidolia test. Waveforms were analzyed and current source density (CSD) maps were generated.

Results: CSD profiles were shown to be interpretable when face and face pareidolia conditions. N100, P100, and N170 components showed larger amplitudes and longer latency in epilepsy patients in response to face pareidolia stimuli compared to real face images. However, the N170 component latency did not differ significantly between epilepsy patients and healthy participants, while the larger amplitude and longer latency of N100 and P100 responses were evoked in healthy patients.

Conclusions: Our results indicate a difference in the neural mechanisms of processing real face information and pareidolia face-like information in TLE patients.

Epilepsy is a chronic disorder of the nervous system caused by abnormal discharges from brain cells. Structural, infectious, metabolic, immunologic, and unknown causes can contribute to the development of seizures. In recent years, there has been increasing attention on epilepsy caused by genetic metabolic disorders. More than two hundred inherited metabolic disorders have been identified as potential cause of seizures, and they are mainly associated with energy deficiency in the brain, accumulation of toxic substances, abnormal neurotransmitter transmission, and deficiency of cofactors. Vitamins play a crucial role as components of several enzymes or coenzymes. Impaired metabolism of thiamine, biotin, vitamin B6, vitamin B12 and folic acid can contribute to early-onset seizures and developmental abnormalities in infants. However, timely supplementation therapy can significantly improve patient prognosis of affected patients. Therefore, a thorough understanding and investigation of the metabolic basis of epilepsy is essential for the development of precise therapeutic approaches, which could provide significant therapeutic benefits for patients.

Background: Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) is typically resistant to pharmacological interventions; however, achieving seizure freedom is possible through surgery. Our objective was to focus on the pregnancy and seizure outcomes during pregnancy of women with TLE-HS, and aim to identify predictors of seizure control.

Methods: The West China Registry of Pregnancy of Women with Epilepsy (WCPR_EPi) was a monocentric prospective cohort study of women with epilepsy (WWE). We screened women with TLE-HS in this database. Their clinical profile, anti-seizure medication (ASM) use, and pregnancy outcomes were extracted from the records of the registry (2010-2023).

Results: Out of 2320 WWE followed up, 47 pregnancies in women with TLE-HS were identified and analyzed. Seizure exacerbation occurred in 40.4% of pregnancies, and seizure freedom was present in 34.0% of these during pregnancy. Factors associated with seizure exacerbation during pregnancy was ASM non-adherence (odds ratio [OR] =7.00, 95% confidence interval [CI] 1.43-34.07, P=0.016). The surgery group showed a significantly higher seizure freedom rate (OR = 6.87, 95% CI 1.02-46.23, P=0.016) and lower rate of induced labor (0.0% vs 26.5%, P=0.047) compared to the medically-treated group alone. Caesarean section was chosen in 77.1% of cases due to seizure concerns, with comparable in epilepsy-related (n=20) and obstetric causes (n=24). No major congenital malformations were reported.

Conclusions: Surgical treatment before pregnancy appears to offer a higher chance of seizure freedom compared to medication alone. Most of women with TLE-HS can deliver healthy offspring regardless of suboptimal seizure control and unwarranted concerns.

Mesial temporal sclerosis (MTS) stands out as a prevalent etiology of medically intractable temporal lobe epilepsy. Understanding the pathological alterations, clinical manifestations and risk factors of MTS is crucial for the recognition and suspicion of this condition. In this paper, we provide a comprehensive narrative review on the pathophysiology, clinical manifestations, and treatment options for MTS. By doing so, we aim to provide an up-to-date understanding of this condition.

Background: Temporal lobe epilepsy is the most common type of focal epilepsy, but hereditary factors are usually overlooked. Reelin (RELN) is considered to be the second most common pathogenic gene implicated in autosomal dominant lateral temporal epilepsy (ADLTE). However, this mutation is not frequently discovered in the Chinese population. Additionally, there are few clinical studies regarding the connection between RELN and glioma.

Case presentation: The healthcare records of an 8-year-old child who experienced generalized tonic-clonic seizures (GTCS) during sleep for 7 years were retrospectively analyzed. In addition to experiencing his first seizure at the age of one, his mother also suffered from GTCS during her pregnancy, and a glioma was discovered. An investigation involving gene sequencing was conducted on the proband and his parents. He was diagnosed with ADLTE once a missense mutation in RELN (c.1799 C > T) was identified as the causal factor. The mutation was inherited from his mother. He was taking levetiracetam (500 mg twice a day) to avoid seizures, but his mother died of status epilepticus caused by glioma recurrence two years earlier.

Conclusions: Genetic issues should be given more consideration in cases of temporal lobe epilepsy. If the source of the seizures is determined to be inherited, anti-seizure medications should be used for prolonged periods. Furthermore, more research is required to determine whether mutations in RELN are related to the occurrence and progression of gliomas.

Background: This study aimed to investigate the unique electroencephalography (EEG) patterns in neuronopathic Gaucher disease (GD) patients and explore the correlations between EEG findings and neurological phenotypes so as to optimize clinical outcomes.

Methods: A retrospective analysis was conducted on 74 EEG recordings from 50 GD patients between January 2012 and July 2022.

Results: Twenty-three patients exhibited abnormal EEG recordings, including 11 of the GD1 type (the transitional type) and 12 with neuronopathic GD. Of the 12 neuronopathic GD patients, 9 patients with epilepsy were analysed specifically in terms of the clinical course. The primary waveform observed in the neuronopathic EEG recordings was the spike-and-wave complex (SWC) during both awake and sleep states. This was significantly different from sharp waves observed only during sleep in the patients of the transitional type (P = 0.0230). The abnormal discharges in the neuronopathic patients were most commonly located in the bilateral Rolandic areas, while the transitional type commonly involved the bilateral frontal regions. Three patients with an epileptic EEG pattern reported their initial seizures years later. Seizures in the neuronopathic patients were effectively controlled with anti-seizure medications (ASMs), despite the ongoing presence of abnormal EEG patterns. The EEG patterns during ocular symptoms were characterized by sporadic or continuous unilateral SWC during sleep.

Conclusions: Patients with neuronopathic GD exhibit distinct EEG patterns that can help differentiate them from GD1 patients. Early treatment with ASMs can effectively control seizures. EEG plays a crucial role in monitoring seizures and can facilitate prompt intervention for GD patients.