Introduction: Epilepsy is one of the most common and serious brain syndromes and has adverse consequences on a patient's neurobiological, cognitive, psychological, and social wellbeing, thereby threatening their quality of life. Some patients with epilepsy experience poor treatment effects due to the unclear pathophysiological mechanisms of the syndrome. Dysregulation of the mammalian target of the rapamycin (mTOR) pathway is thought to play an important role in the onset and progression of some epilepsies.Methods: This review summarizes the role of the mTOR signaling pathway in the pathogenesis of epilepsy and the prospects for the use of mTOR inhibitors.Results: The mTOR pathway functions as a vital mediator in epilepsy development through diverse mechanisms, indicating that the it has great potential as an effective target for epilepsy therapy. The excessive activation of mTOR signaling pathway leads to structural changes in neurons, inhibits autophagy, exacerbates neuron damage, affects mossy fiber sprouting, enhances neuronal excitability, increases neuroinflammation, and is closely associated with tau upregulation in epilepsy. A growing number of studies have demonstrated that mTOR inhibitors exhibit significant antiepileptic effects in both clinical applications and animal models. Specifically, rapamycin, a specific inhibitor of TOR, reduces the intensity and frequency of seizures. Clinical studies in patients with tuberous sclerosis complex have shown that rapamycin has the function of reducing seizures and improving this disease. Everolimus, a chemically modified derivative of rapamycin, has been approved as an added treatment to other antiepileptic medicines. Further explorations are needed to evaluate the therapeutic efficacy and application value of mTOR inhibitors in epilepsy.Conclusions: Targeting the mTOR signaling pathway provides a promising prospect for the treatment of epilepsy.

This study aimed to identify key genes related to copper metabolism in Parkinson's disease (PD), providing insight into their roles in disease progression. Using bioinformatic analyses, the study identified hub genes related to copper metabolism in PD patients. Differentially expressed genes (DEGs) were identified using the limma package, and copper-metabolism-related genes (CMRGs) were sourced from the Genecard database. Immune cell-related genes were derived through immune infiltration and Weighted Gene Co-expression Network Analysis (WGCNA). Hub genes were pinpointed by integrating DEGs, CMRGs, and immune cell-related genes. Functional analyses included Receiver Operating Characteristic (ROC) analysis, Ingenuity Pathway Analysis (IPA), and networks for miRNA-mRNA-transcription factor (TF), Competitive Endogenous RNA (ceRNA), and hub gene-drug interactions. Validation was performed in cerebrospinal fluid (CSF) samples from PD patients, while in vitro experiments utilized GBE1- overexpressing SH-SY5Y cells to examine cell proliferation, migration, and viability. Nine hub genes (HPRT1, GLS, SNCA, MDH1, GBE1, DDC, STXBP1, ACHE, and AGTR1) were identified from 753 CMRGs, 416 DEGs, and 951 immune cell-related genes. ROC analysis showed high predictive accuracy for PD, and principal component analysis (PCA) effectively distinguished PD patients from controls. IPA identified 20 significant pathways, and various networks highlighted miRNA, TF, and drug interactions with the hub genes. Hub gene expression was validated in PD CSF samples. GBE1-overexpressing cells displayed enhanced proliferation, migration, and viability. The study identified nine copper metabolism-related genes as potential therapeutic targets in PD, highlighting their relevance in PD pathology and possible treatment pathways.

Background: Several reports have indicated potential cognitive decline for cerebral small vessel disease (CSVD), especially in attention domain, whereas the attentional function at network level is still elusive. In this study, we used the attention network test (ANT) paradigm to characterize the efficiency of the alerting, orienting, and executive control networks in patients with CSVD and explore possible correlations between attention network efficiencies and obtained CSVD total score. Methods: A total of 31 patients with CSVD and 30 healthy controls matched for age, gender, and education level were recruited. After neuropsychological and anxiety/depression/somatization assessments, an original version of ANT containing different cue conditions and target stimuli was used to investigate independent attentional components, and then, behavioral performance (accuracy and reaction time) and network efficacy were recorded and analyzed. Results: Assessed by traditional neuropsychological scale (MoCA), we did not find difference between groups on general cognition. Nevertheless, the overall reaction time to targets of ANT was markedly prolonged in patients with CSVD, and similar phenomenon was observed for overall accuracy on ANT. Moreover, patients showed significantly lower orienting and executive control network efficiencies compared with controls, while not for alerting network. These impairments were correlated with total CSVD burdens, but not with anxiety, depression, or somatization. Conclusions: Although general and almost all individual cognitive function evaluated by MoCA seemed to remain intact, the orienting and executive control function was impaired in individuals with CSVD, which was modulated by lesion grades. Our observations implied insidious attentional deficits regarding CSVD. Given this, considering its simplicity and sensitivity, ANT could serve as an attractive tool for early diagnosis of cognitive dysfunction. Further investigations on the availability of ANT detection for CSVD are warranted.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with different initial symptoms and complex clinical manifestations. A 14-year-old female patient presented with persistent fever and severe headache. Medical imaging examinations revealed multiple abnormal intracranial lesions. The patient had previously been misdiagnosed with “encephalitis and acute disseminated encephalomyelitis” after visiting numerous hospitals. Eventually, by combing the characteristics of the case and genetic testing results, the patient was diagnosed with TSC accompanied by Mycoplasma pneumoniae infection. The purpose of this case report and literature review is to improve understanding of the clinical diagnosis and treatment of TSC so as to avoid misdiagnosis, missed diagnosis, and overtreatment.