Pentylenetetrazole (PTZ), a tetrazole derivative, is commonly used as a chemical agent to induce neurological disorders and replicate the characteristics of human epileptic seizures in animal models. This review offers a comprehensive analysis of the behavioral, neurophysiological, and neurochemical changes induced by PTZ. The epileptogenic and neurotoxic mechanisms of PTZ are associated with an imbalance between the GABAergic and glutamatergic systems. At doses exceeding 60 mg/kg, PTZ exerts its epileptic effects by non-competitively antagonizing GABAA receptors and activating NMDA receptors, resulting in an increased influx of cations such as Na+ and Ca2+. Additionally, PTZ promotes oxidative stress, microglial activation, and the synthesis of pro-inflammatory mediators, all of which are features characteristic of glutamatergic excitotoxicity. These mechanisms ultimately lead to epileptic seizures and neuronal cell death, which depend on the dosage and method of administration. The behavioral, electroencephalographic, and histological changes associated with PTZ further establish it as a valuable preclinical model for the study of epileptic seizures, owing to its simplicity, cost-effectiveness, and reproducibility.

It has been noted that people who have epilepsy have an increased propensity for cognitive dysfunction. We explored 25 relevant articles on PubMed and Cochrane Library after implementing inclusion criteria. Different factors have been postulated and studied that may cause cognitive dysfunction in these patients; structural brain abnormalities, polypharmacy of antiepileptic medication, and neuropsychiatric disorders are the most common causes. Cognitive assessments such as Montreal Cognitive Assessment (MOCA) and Mini-Mental State Exam (MMSE) are the mainstay tools used to diagnose the degree of cognitive decline, and alterations in EEG (electroencephalogram) parameters have also been noted in people with cognitive decline. The mechanisms and treatments for cognitive decline are still being studied, while attention has also been directed toward preventive and predictive methods. Early detection and treatment of cognitive impairment can help minimize its impact on the patient\'s quality of life. Regular cognitive assessments are essential for epileptic patients, particularly those on multiple antiepileptic drugs. While proper management of epilepsy and related comorbidities would reduce cognitive decline and improve the overall quality of life for people with epilepsy.

The congenital disorder of glycosylation associated with ALG1 (ALG1-CDG) is a rare autosomal recessive disease. Due to the deficiency of β1,4 mannosyltransferase caused by pathogenic variants in ALG1 gene, the assembly and processing of glycans in the protein glycosylation pathway are impaired, resulting in a broad clinical spectrum with multi-organ involvement. To raise awareness of clinicians for its manifestations and genotype, we here reported a new patient with a novel variant in ALG1 gene and reviewed the literature to study the genotype-phenotype correlation.
Clinical characteristics were collected, and clinical exome sequencing was used to identify the causative variants. MutationTaster, PyMol, and FoldX were used to predict the pathogenicity, changes in 3D model molecular structure of protein, and changes of free energy caused by novel variants.
The proband was a 13-month-old Chinese Han male characterized by epileptic seizures, psychomotor development delay, muscular hypotonia, liver and cardiac involvement. Clinical exome sequencing revealed the biallelic compound heterozygosity variants, a previously reported variant c.434G>A (p.G145N, paternal) and a novel variant c.314T>A (p.V105N, maternal). The literature review found that in severe phenotypes, the incidences of clinical manifestations were significantly higher than that in mild phenotypes, including congenital nephrotic syndrome, agammaglobulinemia, and severe hydrops. Homozygous c.773C>T was a strongly pathogenic variant associated with a severe phenotype. When heterozygous for c.773C>T, patients with another variant leading to substitution in amino acids within the strongly conserved regions (c.866A>T, c.1025A>C, c.1182C>G) may cause a more severe phenotype than those within less-conserved regions (c.434G>A, c.450C>G, c.765G>A, c.1287T>A). c.1129A>G, c.1076C>T, and c.1287T>A were more likely to be associated with a mild phenotype. The assessment of disease phenotypes requires a combination of genotype and clinical manifestations.
The case reported herein adds to the mutations identified in ALG1-CDG and a review of this literature expands the study of the phenotypic and genotypic spectrum of this disorder.

Bilateral posterior fracture-dislocation of the shoulders is a very rare entity with an average rate of 0.6/100000 per year. It was first described in 1902 by Mynter. Only a few cases have been published so far. The \"triple E syndrome\" is used to describe the causative factors involved in this injury - epilepsy, electrocution, extreme trauma. We present our experience since 2019 with 2 cases of bilateral posterior fracture-dislocation of the shoulders after an epileptic seizure in patients with cranial meningiomas. Total removal of the meningiomas was performed in both cases and afterwards the patients were operated on by the traumatology team. The shoulder joint is the most commonly dislocated joint in the body with less than 4 % being posteriorly dislocated. Bilateral fracture-dislocation of the shoulders is associated with \"triple E syndrome\" and 90 % of the cases are related to seizures. The diagnosis is usually delayed due to the lack of signs of trauma. Early diagnosis and proper surgical treatment can maximize the final functional results and patient recovery.

Autism spectrum disorder (ASD) has been shown to be associated with various other conditions, and most commonly, ASD has been demonstrated to be linked to epilepsy. ASD and epilepsy have been observed to exhibit high rates of comorbidity, even when compared to the co-occurrence of other disorders with similar pathologies. At present, nearly one-half of the individuals diagnosed with ASD also have been diagnosed with comorbid epilepsy. Research suggests that both conditions likely share similarities in their underlying disease pathophysiology, possibly associated with disturbances in the central nervous system (CNS), and may be linked to an imbalance between excitation and inhibition in the brain. Meanwhile, it remains unclear whether one condition is the consequence of the other, as the pathologies of both disorders are commonly linked to many different underlying signal transduction mechanisms. In this review, we aim to investigate the co-occurrence of ASD and epilepsy, with the intent of gaining insights into the similarities in pathophysiology that both conditions present with. Elucidating the underlying disease pathophysiology as a result of both disorders could lead to a better understanding of the underlying mechanism of disease activity that drives co-occurrence, as well as provide insight into the underlying mechanisms of each condition individually.

Human herpesvirus 7 (HHV-7) is a common virus that infects children early and is accompanied by lifelong latency in cells, which is easy to reactivate in immunodeficient adults, but the underlying pathological mechanism is uncertain in immunocompetent adults without peculiar past medical history. Even though the clinical manifestation of the encephalitis caused by HHV-7 is uncommon in immunocompetent adults, the HHV-7 infection should not be neglected for encephalitis for unknown reasons.
We reported here a case of HHV-7 encephalitis with epileptic seizures. While the brain computer tomography was standard, electroencephalography displayed slow waves in the temporal and bilateral frontal areas, then HHV-7 DNA was detected in the metagenomic next-generation sequencing of cerebrospinal fluid. Fortunately, the patient recovered after treatment and was discharged 2 months later. We also collected the related cases and explored a better way to illuminate the underlying mechanism.
The case indicates clinicians should memorize HHV-7 as an unusual etiology of encephalitis to make an early diagnosis and therapy.

Diffuse leptomeningeal glioneuronal tumors (DLGNTs) are a rare indolent neoplasm described in the 2016 WHO classification of tumors of the central nervous system (CNS). We describe a case of an 11 year old boy who initially presented intermittent headache, low back pain and communicating hydrocephalus, misdiagnosed as having tuberculous meningitis. Further clinical deterioration with seizures was observed and follow-up MRI showed further aggravation of leptomeningeal enhancement in the basal cisterns. Biopsy of the brain and leptomeninges revealed a diffuse leptomeningeal glioneuronal tumor. DLGNT should be considered in the differential diagnosis of conditions presenting as communicating hydrocephalus with nodular lesions and leptomeningeal enhancement. A timely histologic diagnosis through a biopsy of the brain is necessary to confirm the diagnosis.

OBJECTIVE: Systematic reviews were conducted on the existence of screening tools for epilepsy, quality of life or comorbidities tools, but not specifically in low- and middle-income countries. This study aimed to identify the different tools developed and validated in low- and middle-income countries for the investigation of epilepsy. This to facilitate research in these regions and to identify needs in areas where few instruments are available.
METHODS: This review was conducted according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. PubMed, Embase, MedLine, Google Scholar, Web of Science, SciELO, Neurology Asia, African Journal of Neurological Sciences and Institute of Epidemiology and Tropical Neurology bibliographic databases were investigated. Articles were included according to the following criteria: (1) to be validation studies on tool for investigating epilepsy, (2) to be conducted in a low- or middle-income country, (3) to be published between 1980 and 2021, and (4) to be written in English, French, Spanish or Portuguese. The characteristics of the tools and validation methods were collected. The frequency of use of the tools was estimated.
RESULTS: Ninety-three articles were retained, corresponding to 91 tools from 44 countries. The main tools targeted quality of life (n = 30), comorbidities (n = 19) and screening (n = 13). Instruments were mainly developed and validated in Asia (n = 43), then in Central and South America (n = 24). The IENT (Institute of Epidemiology and Tropical Neurology) questionnaire was developed in several tropical countries (Africa, South East Asia and Latin America). The development and validation methods were heterogeneous from one tool to another and some tools (e.g., QOLIE-31, NDDI-E, PATE, etc.) were culturally adapted.
CONCLUSIONS: This review identifies geographic specificity regarding the creation, validation and use of tools for investigating epilepsy available in low- and middle-income countries. It will help investigators in the choice of tools in their future epidemiological studies on epilepsy in this context.

Stress cardiomyopathy (SCM) occurs in approximately 1% of patients presenting with troponin-positive suspected acute coronary syndrome (ACS). We present here a 50-year-old female who presented to the emergency department (ED) with altered mental status. In the hospital, she was found to have status epilepticus (SE) secondary to Herpes simplex virus encephalitis. Her hospital stay was complicated by high troponins and a transthoracic echocardiogram showed reduced ejection fraction and wall motion abnormality. Repeat echo five days later showed normal ventricular systolic function with no wall motion abnormality. Extensive ischemia workup was negative. A diagnosis of stress cardiomyopathy has been made. We urge physicians to include SCM in their differential diagnosis especially in cases of status epilepticus in order to avoid invasive procedures and for better management of patients.

Benzene is a common industrial chemical and an important environmental pollutant. In addition, exposure to benzene may cause injury to the nervous system, in vivo. However, few clinical cases of benzene-induced injury to the nervous system have been reported. Therefore, the present report highlights a case of benzene poisoning, presenting as status epilepticus. The patient was admitted to the intensive care unit (ICU) with a coma after experiencing seizures 7 hours ago. He had a history of exposure to paint containing benzene. In addition, cranial magnetic resonance imaging (MRI) revealed extensive bilateral signal abnormalities in the cerebral white matter. The level of the benzene metabolite was also high in the urine. Consequently, the patient was diagnosed with benzene poisoning and status epilepticus, after which he received nerve nourishment, enteral nutrition, mechanical ventilation, and other supportive measures. He regained normal consciousness and motor ability, 1 month after treatment. The patient was also followed-up for 15 months and it was shown that he had returned to normal life without neurological and psychological deficits. Moreover, cranial MRI showed that the lesions had disappeared. This case therefore indicated that benzene poisoning should be considered if the patient has a clear history of exposure to the chemical, presents with seizures and has extensive signal abnormalities in the white matter, revealed by MRI examination. Additionally, early diagnosis and effective supportive treatment can guarantee a favorable prognosis for benzene poisoning.