Journal of epilepsy research最新文献

A dilemma exists in context to the timing of surgery in a case presenting with explosive onset seizures secondary to a focal cortical dysplasia (FCD). This case report highlights the challenges faced in the management of a 4-year-old child with recent onset cluster seizures refractory to anti-epileptic drugs. A 4-year-old girl presented with an acute onset of cluster seizures (up to 32 in a day), semiologically characterized by tonic upper limb extension and laughter lasting for few seconds with no response to multiple anti-epileptic drugs. The clinical, electrographic, neuroimaging and interictal positron emission tomography data were concordant and consistent with a left middle frontal gyrus dysplasia which was successfully resected under electrocorticographic guidance. Patient is seizure free at 2 months of follow up. (Engel Class 1). Surgical resection is feasible and potentially more effective in the early phase of clinical presentation of FCD.

Drug-resistant epilepsy (DRE) is a global public health problem. This category includes patients who continue to experience seizures despite long-term anti-epileptic medications. DRE can lead to severe disability and morbidity in older children and adults and is associated with increased risk of mortality than the general population. This report describes the case of a 15-year-old male patient with DRE successfully managed with autologous cell-based and hyperbaric oxygen therapy. The patient underwent two sessions of cell-based therapy consisting of cells derived from the bone marrow, adipose tissue, and peripheral blood followed by neuro-physiotherapy and oxygen therapy. Post-treatment, the patient experienced decrease in the frequency of seizures and reduction in the dosage of anti-epileptic medications. Electroencephalogram taken one year after the therapy revealed improvement in seizure activity. The outcomes in this case may be considered a preliminary finding in formulating more robust treatment strategies using cell-based therapy for DRE.

Background and purpose: To compare the rates of clinically relevant information provided by electroencephalogram (EEG) and magnetic resonance imaging (MRI) brain in first afebrile seizure (FAS) in children.

Methods: In this prospective randomized controlled trial, neurologically normal children between the age of 2 and 14 years, presenting with first episode of unprovoked, afebrile generalized or partial seizures, were included. Enrolled patients were randomized into two groups. After stabilization, initial workup and management, group I-patients underwent an EEG followed by MRI, whereas group II-patients underwent an initial MRI brain followed by an EEG. The patients were followed up after results of both the investigations and then every 3 months for seizure recurrence. The primary outcome was the proportion of investigations, providing clinically relevant information. The secondary outcomes were to determine the etiological diagnosis of FAS and record adverse events associated with EEG and MRI.

Results: Out of 170 enrolled patients, 52 patients (61.2%) in initial EEG group and 53 patients (70.6%) in initial MRI group had abnormal results on first investigation. An etiological diagnosis could not be made in any patient in initial EEG group. Neuroimaging revealed an etiological diagnosis in 53 patients (70.6%) in initial MRI group. Inflammatory granuloma was found to be the most common cause of FAS, followed by idiopathic epilepsy.

Conclusions: The results of our study done in neurologically normal children with FAS showed a high diagnostic yield with an initial MRI. We recommend MRI brain to be considered as the initial investigation for evaluation of FAS in children.

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.