Journal of epilepsy research最新文献

Background and purpose: The purpose of this study was to understand the relationship between quality of life and stigma among reproductive age group women with epilepsy.

Methods: A cross-sectional descriptive study was conducted to assess the data from the 49 women with epilepsy from a tertiary care hospital in India. Quality of life was evaluated with the quality of life in epilepsy-31 questionnaire and stigma was evaluated with the stigma scale of epilepsy. Data also included socio-demographic and clinical characteristics.

Results: The mean age of the participants was 24.67±3.72 years. Quality of life total score (r=-0.485**) and seizure worry domain (r=-0.427**) were significantly negatively correlated with stigma total score at p<0.01 level. Being uneducated, married, unemployed, having children, having generalized tonic-clonic seizures, duration of illness (>10 years), and consuming levetiracetam, anti-epileptic drug (AED), were the significant contributing factors for low quality of life among women with epilepsy during the reproductive age group. Belonging to lower socio-economic status and taking more than two AEDs were also associated with lower quality of life among women with epilepsy, which are trending towards significance.

Conclusions: The study assessed the relationship between the quality of life and the Stigma scale of epilepsy and demonstrated the impact of stigma and quality of life on socio-demographic and clinical variables of women with epilepsy under the reproductive age group. To enhance the quality of life and reduce the stigma levels among women with epilepsy, some of the modifiable parameters can be considered by the multidisciplinary health care professionals from the findings of the current research.

Background and purpose: In childhood epilepsy, genetic etiology is increasingly recognized in recent years with the advent of next generation sequencing. This has broadened the scope of precision medicine in intractable epilepsy, particularly epileptic encephalopathy (EE). Developmental disorder (DD) is an integral part of childhood uncontrolled epilepsy. This study was performed to investigate the genetic etiology of childhood epilepsy and DD.

Methods: In this study, 40 children with epilepsy and DD with positive genetic mutation were included retrospectively. It was done in a tertiary care referral hospital of Bangladesh from January 2019 to December 2020. Genetic study was done by next generation sequencing. In all cases electroencephalography, neuroimaging was done and reviewed.

Results: In total, 40 children were enrolled and the average age was 41.4±35.850 months with a male predominance (67.5%). Generalized seizure was the predominant type of seizure. Regarding the association, intellectual disability and attention deficit hyperactivity disorder was common. Seventeen cases had genetically identified early infantile EE and common mutations observed were SCN1A (3), SCN8A (2), SLC1A2 (2), KCNT1 (2), and etc. Five patients of progressive myoclonic epilepsy were diagnosed and the mutations identified were in KCTD7, MFSD8, and CLN6 genes. Three cases had mitochondrial gene mutation (MT-ND5, MT-CYB). Some rare syndromes like Gibbs syndrome, Kohlschütter-Tönz syndrome, Cockayne syndrome, Pitt-Hopkins syndrome and cerebral creatine deficiency were diagnosed.

Conclusions: This is the first study from Bangladesh on genetics of epilepsy and DD. This will help to improve the understanding of genetics epilepsy of this region as well as contribute in administering precision medicine in these patients.

Background and purpose: Individualized anti-epileptic drug (AED) selection in patient with epilepsy is crucial. However, there is no unified opinion in treating patients with drug resistant epilepsy (DRE). This survey aimed to make a consolidate consensus with epileptologists' perspectives of the treatment for Korean DRE patients by survey responses.

Methods: The survey was conducted with Korean epilepsy experts who have experience prescribing AEDs via e-mail. Survey questionnaires consisted of six items regarding prescription patterns and practical questions in treating patients with DRE in Korea. The research period was from February 2021 to March 2021.

Results: The survey response rate was 83.3% (90/108). Most (77.8%) of the responders are neurologists. The proportion of patients whose seizures were not controlled by the second AED was 26.9%. The proportion of patients who had taken five or more AEDs is 13.9%, and those who are currently taking five or more AEDs are 7.3%, of which 54.5% and 37.9% reported positive effects on additional AED, respectively. The majority (91.1%) of respondents answered that the mechanism of action was the top priority factor when adding AED. Regarding data priority, responders considered that expert opinion should have the top priority, followed by clinical experiences, reimbursement guidelines and clinical evidence. Responders gave 64.9 points (range from 0 to 100) about overall satisfaction on reimbursement system of Health Insurance Review and Assessment Service for AED.

Conclusions: This study on AED therapy for DRE patients is the first nationwide trial in Korean epilepsy experts. In five drug failure, the top priorities on AED selection are mechanism of action and expert opinion. These findings might help to achieve consensus and recognize the insight on optimal therapy of AED in DRE.

Background and purpose: Status epilepticus is a neurologic emergency whose epidemiology, etiology and management are scarcely known in developing countries. Our objective was to describe the demographic and clinical features as well as the management of generalized convulsive status epilepticus (GCSE) in adult patients admitted to the emergency department of an academic hospital in Peru, between March 2019 and March 2020.

Methods: Observational study of a prospective cohort in which patients were assessed by the emergency and neurology department on the first day of hospitalization, at discharge and at 30 days post-discharge in a follow-up visit. Relevant demographics and clinical data were collected. After being encoded and sorted, univariate statistical analysis was carried out.

Results: Of the sample of 59 patients, 62.7% were males, 57.6% were unemployed, 89.8% did not finish high school, and 55.9% had intermittent GCSE with no seizure at arrival. The total calculated median times were: 60 minutes from GCSE onset to hospital arrival, 110 minutes from GCSE onset to 1st line therapy, and 7 minutes from hospital arrival to 1st line therapy. The most frequently used antiepileptic drugs were one dose of benzodiazepine (41.7%), phenytoin (76.9%), and additional doses of benzodiazepines (60%) for 1st, 2nd, and 3rd line therapies, respectively. The most frequent etiologies were antiepileptic drug suspension (27.1%), undetermined (25.4%) and acute stroke (11.8%). 62.71% had 0-2 modified Rankin score at discharge.

Conclusions: In this cohort of patients, GCSE was mainly intermittent. Management times differed from the guidelines' recommendations.

Background and purpose: Licofelone is a dual 5-lipoxygenase/cyclooxygenase inhibitor, with well-documented anti-inflammatory and analgesic effects, which is used for treatment of osteoarthritis. Recent preclinical studies have also suggested neuroprotective and anti-oxidative properties of this drug in some neurological conditions such as seizure and epilepsy. We have recently demonstrated a role for nitric oxide (NO) signaling in the anti-epileptic activity of licofelone in two seizure models in rodents. Given the important role of N-methyl-D-aspartate receptors (NMDARs) activation in the NO production and its function in the nervous system, in the present study, we further investigated the involvement of NMDAR in the effects of licofelone (1, 3, 5, 10, and 20 mg/kg, intraperitoneal [i.p.]) in an in vivo model of seizure in mice.

Methods: Clonic seizures were induced in male NMRI mice by intravenous administration of pentylenetetrazol (PTZ).

Results: Acute administration of licofelone exerted anticonvulsant effects at 10 (p<0.01) and 20 mg/kg (p<0.001). A combined treatment with sub-effective doses of the selective NMDAR antagonist MK-801 (0.05 mg/kg, i.p.) and licofelone (5 mg/kg, i.p.) significantly (p<0.001) exerted an anticonvulsant effect on the PTZ-induced clonic seizures in mice. Notably, pre-treatment with the NMDAR co-agonist D-serine (30 mg/kg, i.p.) partially hindered the anticonvulsant effects of licofelone (20 mg/kg).

Conclusions: Our data suggest a possible role for the NMDAR in the anticonvulsant effects of licofelone on the clonic seizures induced by PTZ in mice.

Altered mentality associated with hyperammonemia is usually diagnosed in patients with liver disease. Nonhepatic hyperammonemia may be present in critically ill patients or may be caused by high protein diets or certain drugs. Urea cycle disorders (UCDs) rarely present with altered mentality with hyperammonemia in adult patients. An 82-year-old female visited our hospital with complaints of abnormal behavior and confusion. Routine blood tests revealed elevated serum ammonia. Her mentality and serum ammonia level normalized after lactulose enema and she was discharged thereafter. However, she was later re-admitted because of recurrent altered mentality. Amino acid analysis revealed that serum levels of ornithine and glutamine increased significantly, whereas the levels of alanine and glutamic acid increased slightly, and the levels of arginine, lysine, and citrulline were normal, which were probably caused by reduced activity of the mitochondrial ornithine carrier-1. Although our patient was not diagnosed genetically, this case illustrates the under-recognized fact that UCD can occur in a senile age. Clinical suspicion of UCDs in patients with hyperammonemia is critical for early diagnosis and to prevent the significant neurologic sequelae.

Epilepsy is one of the commonest and oldest neurological diseases in the history of mankind, the exact pathophysiology of the evolution of which still remains elusive. The intimate and intriguing relation between epilepsy and sleep has been known for a long time. Rapid eye movement sleep (REMS) is well documented to exert potent antiepileptic action in human epilepsies and the underlying mechanism of which is largely based on its property to induce widespread electroencephalogram (EEG)-desynchronization. The pedunculopontine nucleus (PPN) owing to its property to enhance REMS has recently been under study for its potential role in intractable epilepsy (IE) and has been proposed as a novel deep brain stimulation target in IE. This brief paper unfolds the existing role of PPN, REMS, and EEG-desynchronization (PRED) in the evolution of epilepsy in an axial manner, the realization and comprehension of which is likely to open new avenues for further understanding of epileptogenesis, improved treatment of epilepsy and reducing the risk of IE.

Background and purpose: Accumulating evidence suggest that lenalidomide, a structural analog of thalidomide, has neuro-modulatory and neuroprotective properties. In the present study, we investigated effects of acute administration of lenalidomide on clonic seizure threshold in mice induced by pentylenetetrazole (PTZ) and possible role of N-methyl-D-aspartic acid receptor (NMDAR) and nitric oxide (NO) pathway.

Methods: We have utilized a clonic model of seizure in NMRI mice induced by PTZ to evaluate the potential effect of lenalidomide on seizure threshold. Different doses of lenalidomide (5, 10, 20, and 50 mg/kg, intraperitoneal [i.p.]) were administered 1 hour before PTZ. To evaluate probable role of NMDAR/NO signaling, the non-selective NO synthase inhibitor L-N ^G-nitroarginine methyl ester (L-NAME; 10 mg/kg, i.p.), neuronal NOS (nNOS) inhibitor 7-nitroindazole (7-NI; 30 mg/kg, i.p.), selective inducible NOS inhibitor aminoguanidine (AG; 100 mg/kg, i.p.), selective NMDAR antagonist MK-801 (0.01 mg/kg, i.p.), and selective NMDAR agonist D-serine (30 mg/kg, i.p.) were injected 15 minutes before lenalidomide.

Results: Lenalidomide at 10 and 20 mg/kg significantly elevated the PTZ-induced seizure thresholds. Interestingly, L-NAME (10 mg/kg, i.p), 7-NI (30 mg/kg, i.p), and AG (100 mg/kg, i.p) reversed the anticonvulsive effect of lenalidomide (10 mg/kg). Moreover, treatment with the NMDAR agonist D-serine (30 mg/kg, i.p.) did not alter the anticonvulsive properties of lenalidomide (10 mg/kg, i.p). However, the NMDAR antagonist MK-801 (0.01 mg/kg, i.p) significantly reversed the anticonvulsive effects of lenalidomide (10 mg/kg).

Conclusions: Our study demonstrated a role for the NMDAR/NO pathway in the anticonvulsive effects of lenalidomide on the PTZ-induced clonic seizures in mice.

Epilepsy is known to comorbid with Alzheimer's disease. It can promote cognitive decline, and eventually worsen their prognosis and mortality. It is sometimes difficult to find a suitable drug because of the adverse effects. Perampanel has a unique mechanism of action that antagonizes α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid type glutamate receptor. Here, we report a case of severe dementia due to Alzheimer's disease with intractable epilepsy, which perampanel effected for controlling seizures with less adverse effects. The subject is an 89-year-old Japanese woman with severe dementia due to Alzheimer's disease and intractable myoclonic epilepsy. She also had psychiatric symptoms, such as circadian rhythm disorder and irritability. Valproic acid, lacosamide, or carbamazepine were prescribed, but none of them was effective. Shortly after perampanel started, however, myoclonus and these psychiatric symptoms improved. Moreover, it did not cause any obvious adverse effects, which made it possible to continue perampanel until the end of her life. Perampanel may be useful for controlling intractable epilepsy accompanied by Alzheimer's disease. It may also improve psychiatric symptoms with less adverse effect. Accumulation of studies is necessary to evaluate the effectiveness of perampanel on the epilepsy of Alzheimer's disease patients and further understand that mechanism.

Abdominal epilepsy is an uncommon cause of recurrent abdominal pain with or without other complaints seen in children and adults which often goes unnoticed. Here we are presenting a case of abdominal epilepsy in a 7-year boy who had recurrent abdominal pain since many years. He had a history of ventriculoperitoneal shunting which was performed for obstructive hydrocephalus at 1 month and left hemiparesis. He was evaluated at multiple centers for abdominal complaints before being referred here. The video electroencephalogram done showed inter ictal and ictal abnormalities which correlated with magnetic resonance imaging and positron emission tomography abnormalities on the right side. He was started on antiepileptics with a partial response and continued to get events even with four antiepileptics but the frequency and severity reduced significantly. The present case report is to highlight the drug refractoriness of abdominal seizures in a patient with symptomatic focal epilepsy.