Journal of epilepsy research最新文献

Status epilepticus (SE) is rare in juvenile myoclonic epilepsy (JME). This report presents three patients with myoclonic status epilepticus (MSE). MSE is defined as prolonged period of myoclonic jerks that are correlated with epileptiform discharges on electroencephalogram. The precipitating factors among the three patients were: introduction of carbamazepine in case1, missing the dose in case2, and introduction of oxcarbazepine in case3. Of the three patients, one patient was a misdiagnosed case of JME. In him the diagnosis of JME was established after 35 years when he developed MSE with the addition of oxcarbazepine to the antiseizure medication (ASM) which he was taking. Detailed review of the history revealed that he used to get occasional myoclonic jerks with deprived sleep and stress. This patient illustrates that the diagnosis of JME can be missed or delayed if history of myoclonic jerks is not elicited, particularly in patents with pubertal onset epilepsy. The other lesson is that possibility of JME should be considered in patients with drug resistant epilepsy (pseudo-drug resistance).

The definition of status epilepticus (SE) was revised recently in accordance with the various evidences of neuronal injury and changes in clinical settings. Currently, the most acceptable duration of continuous seizure activity is 5 minutes. In 2015, the International League Against Epilepsy Task Force, which was convened to develop a definition and classification of SE, presented a new classification based on four axes: 1) semiology, 2) etiology, 3) electroencephalogram (EEG) correlates, and 4) age. The essential element of nonconvulsive SE (NCSE) is the presence of neurological abnormalities induced by a prolonged epileptic process. The definition of refractory SE involves either clinical or electrographic seizures that persist after adequate doses of an initial benzodiazepine and acceptable second-line antiseizure drugs. The use of EEG is critical in the diagnosis and treatment of NCSE. However, there are a wide range of EEG abnormalities in NCSE. Both the Neurocritical Care Society and the American Epilepsy Society have suggested a paradigm for treating convulsive SE (CSE). The first-line treatment of CSE with benzodiazepine is well-established. The second-line treatment comprises intravenous (IV) doses of fosphenytoin (phenytoin), valproate, phenobarbital, levetiracetam, or midazolam. Although fosphenytoin (phenytoin) and valproate are commonly used in NCSE, the effectiveness of antiepileptic drugs (AEDs) on NCSE has not been well studied. New AEDs such as IV levetiracetam and lacosamide can also be used to treat NCSE with fewer side effects and drug-drug interactions. For refractory SE, general anesthesia with IV midazolam, propofol, pentobarbital, or thiopental could be applied. Use of ketamine, megadose phenobarbital therapy, and multiple combinations of various AEDs including high doses of oral AEDs can also be considered. New-onset refractory status epilepticus (NORSE) and its subcategory, febrile infection-related epilepsy syndrome, involve autoimmune processes. AEDs alone are poorly effective in the treatment of SE in autoimmune encephalitis. Immunotherapy such as steroids, immunoglobulin, rituximab, or tocilizumab can be effective.

Background and purpose: Status epilepticus (SE) is a common pediatric neurological emergency that requires immediate and vigorous management. Currently, phenytoin is the most common agent used in the setting of SE following benzodiazepine for further seizure prevention. Other drugs recently introduced for management of SE are valproic acid and levetiracetam.

Methods: This prospective randomized study included 150 pediatric patients admitted as SE. Patients were randomized into three equal groups (50 each) to receive one of the three anticonvulsants in addition to standard treatment. Patients were monitored in hospital regarding their vitals, time to regain consciousness, and seizure recurrence.

Results: At 24 hours seizures were controlled in 44 patients (88%) in phenytoin group, 39 patients (78%) in levetiracetam (LEV) group and 46 patients (92%) in valproate (VAL) group (p=0.115). The mean time to regain consciousness in phenytoin, LEV and VAL groups was 122.3±45.4, 120.8±42.8, and 75.0±30.7 minutes (mean±standard deviation) respectively. Patients in VAL group regained consciousness earlier than both phenytoin and LEV group patients (p<0.0001). At 3 months follow-up, seven (14.28%) out of 49 patients in phenytoin group, 14 (28.57%) out of 49 in LEV group and two (4%) out of 50 patients in VAL group had a seizure recurrence (p=0.0032).

Conclusions: In our study we found that both IV LEV and IV VAL safe and efficacious. The primary outcome, seizure recurrence at 24 hours, did not show a statistically significant difference in three groups (p>0.05). Also, seizure recurrence at 1 week did not reach a statistically significant difference. However, time to regain consciousness and seizure recurrence at 3 months was significantly less in VAL group (p<0.05).

Background and purpose: Angiocentric glioma is a rare, World Health Organization grade I tumor that is seen predominantly in children and young adults and typically presents with seizures. Histologically, it shows features of both infiltrating glioma and ependymoma.

Methods: We examined molecular immunohistochemical markers which could help in distinguishing this entity from its differential diagnostic considerations.

Results: We retrospectively reviewed the clinicopathologic features of angiocentric gliomas and performed immunohistochemical staining for isocitrate dehydrogenase 1 (IDH-1) (R132H), p53, ATRX, BRAF V600E, Ki-67, and H3 K27M on formalin-fixed, paraffin-embedded tissue. Seven cases in total were found and included six excisional specimens and one biopsy. ATRX staining was retained in all cases. There was no evidence of staining with antibodies to IDH-1 (R132H), H3 K27M, or BRAF V600E. Five tumors showed no staining with antibody to p53 and two tumors showed less than 5% positivity. Ki-67 indices were less than 1% in five tumors, 4-5% in one tumor, and 9-10% in one tumor.

Conclusions: In conclusion, the immunohistochemical markers for ATRX, p53, IDH-1 (R132H), BRAF V600E, H3 K27M show wild-type staining, potentially aiding in avoiding misdiagnoses in cases morphologically similar to other low-grade gliomas. Ki-67 labeling indices are low in most tumors.

Background and purpose: The indication and benefit of plasma level of antiepileptic (AEDs) has been debating in the monitoring of people living with epilepsy and the epilepsy treatment gap has largely been documented in developed countries. This study was aimed to highlight the epilepsy treatment gap between rural and urban Mali.

Methods: We conducted a pilot study on AEDs treatment from September 2016 to May 2019. For 6 months, 120 children and young adults living with epilepsy (rural site, 90; urban site, 30) received phenobarbital, valproic acid and/or carbamazepine. At our rural study site, we determined the AED plasma levels, monitored the frequency, severity and the duration of seizure, and administered monthly the McGill quality of life questionnaire. At our urban study site, each patient underwent an electroencephalogram and brain computed tomography scan without close monitoring.

Results: At the rural study site, patients were mostly on monotherapy; AED levels at 1 month (M1) (n=90) and at 3 months (M3) (n=27) after inclusion were normal in 50% at M1 versus 55.6% at M3, low in 42.2% at M1 versus 33.3% at M3 and high in 7.8% at M1 versus 11.1% at M3. AED levels at M1 and at M3 were significantly different p<0.0001. By M3, seizures (n=90) were <1/month in 26.7%, and lasted less than 1 minute in 16.7%. After a yearlong follow up, all 90 patients reported a good or excellent quality of life. At our urban study site, patients (n=30) were on carbamazepine and valproid acid in 66.67% and monotherapy (carbamazepine) in 33.33%. By November 2018, only six out 30 patients (on bi-therapy) were still taking their medications.

Conclusions: Epilepsy diagnostic and treatment are a real concern in Mali. Our data showed appropriate AED treatment with close follow up resulted in a better quality of life of patients in rural Mali. We will promote the approach of personalized medicine in AED treatment in Mali.

Studies on treatment of epilepsy have been actively conducted in multiple avenues, but there are limitations in improving its efficacy due to between-subject variability in which treatment outcomes vary from patient to patient. Accordingly, there is a growing interest in precision medicine that provides accurate diagnosis for seizure types and optimal treatment for an individual epilepsy patient. Among these approaches, computational studies making this feasible are rapidly progressing in particular and have been widely applied in epilepsy. These computational studies are being conducted in two main streams: 1) artificial intelligence-based studies implementing computational machines with specific functions, such as automatic diagnosis and prognosis prediction for an individual patient, using machine learning techniques based on large amounts of data obtained from multiple patients and 2) patient-specific modeling-based studies implementing biophysical in-silico platforms to understand pathological mechanisms and derive the optimal treatment for each patient by reproducing the brain network dynamics of the particular patient per se based on individual patient's data. These computational approaches are important as it can integrate multiple types of data acquired from patients and analysis results into a single platform. If these kinds of methods are efficiently operated, it would suggest a novel paradigm for precision medicine.

Cerebral metabolism is primarily dependent on glucose for which a facilitated diffusion by glucose transporter protein 1 (GLUT1) across the blood-brain barrier is crucial. This GLUT1 is encoded by the SLC2A1 gene. Mutations in SLC2A1 will lead to a variety of symptoms known as GLUT1 deficiency syndrome. In this article, we report a novel heterozygous intronic variant c.1278+12delC in the SLC2A1 gene in a Saudi patient with myoclonic epilepsy. We also report a new clinical phenotype where the patient has pure myoclonic epilepsy with no focal, absence, or atonic seizures and normal developmental and cognitive functions that started in childhood rather than infancy. Our study enriches the mutation-spectrum of the SLC2A1 gene and stresses on the importance of whole-exome sequencing in the diagnosis of genetic epilepsies. Early diagnosis and initiation of a ketogenic diet are important goals for the successful management of patients with GLUT1 deficiency syndrome.

Background and purpose: Epilepsy is an important neurologic feature of patients with tuberous sclerosis complex (TSC). Most common seizure types are focal seizure and epileptic spasm. Seizure control often requires multiple antiepileptic drugs. This study has been done to evaluate the seizure types, electro-encephalography (EEG), neuroimaging features, and drug treatment of epilepsy in TSC.

Methods: This prospective observational study has been conducted on epilepsy patients with TSC at Bangabandhu Sheikh Mujib Medical University from 2011 to 2019.

Results: Seventy patients with a mean±standard deviation age of 5.64±3.96 years were identified and 57.1% were female. Most common type of seizure was focal seizure (46%). Epileptic spasm occurred in 17% of patients and all of them had seizure onset before 1 year. In 47% of patients EEG showed focal epileptic discharge; hypsarrhythmia was found in most of the patients with epileptic spasm. Majority of the patients needed more than one drug to control seizure. Only 34% of patients were seizure free for at least 12 months and 22.8% had drug resistant epilepsy.

Conclusions: This study highlights the pattern of seizure, treatment pattern, response to drug, and short-time outcome of children with TSC with epilepsy in a developing country like Bangladesh.

Background and purpose: Epilepsy is a chronic unpredictable debilitating condition. Epilepsy has great impacts not only on patients with epilepsies but also the persons around them. Burden among caregivers is understudied area. In view of the dearth of literature or studies focused on caregivers of children with epilepsy in Nepalese context, this study is expected to assess burden and its predictors among caregivers of children with epilepsy.

Methods: A total of 106 caregivers were interviewed using purposive sampling technique. The Zarit Burden Interview Scale short version was used to assess burden and Hospital Anxiety Depression Scale was used to assess anxiety and depression. Data were analysed using SPSS ver. 16.0. Chi-square test, multinomial logistic regression and linear regression analysis were done for analysis of inferential statistics to find out the predictors of burden.

Results: Majority of the caregivers (71.7%) were females and 64.2% of caregivers were mothers of children. Majority of responders (77.4%) were Hindus. Mild to moderate burden was found in 27.4% and high burden was found in 14.2% of the caregivers. Borderline anxiety, borderline depression, anxiety and depression were present in 7.5%, 8.5%, 6.6%, and 6.6% caregivers respectively. Burden was significantly higher in caregivers of epileptic children with poorly controlled seizure (p=0.003) and with co-morbidities (p=0.009). Similarly, burden score had significant positive correlation (p=0.001) with depression and significant negative correlation (p=0.005) with age of onset of epilepsy in children.

Conclusions: Burden, anxiety and depression are common problems in caregivers of children with epilepsy. Poorly controlled seizure, presence of associated comorbidities, younger age of onset of seizure in children and presence of depression in caregivers are the important factors that predict burden among caregivers of children with epilepsy.