EISSN : 2524-4434
Published by: Springer Science and Business Media LLC (10.1186)
Total articles ≅ 46
Latest articles in this journal
Acta Epileptologica, Volume 3; doi:10.1186/s42494-021-00047-z
Cerebrovascular diseases are among the most common causes of seizures in adults, especially in the elderly. With the increased incidence of stroke, the population with post-stroke seizures has grown, leading to the increased awareness of this disorder in the society. The most common seizure type after stroke is the focal seizure with or without evolution into bilateral convulsive seizures. Post-stroke seizures impair the quality of life, as well as the physical and mental health of those patients. Currently, the pathological and physical processes of post-stroke seizures are not quite clear yet. In this review, we summarize current advances in the pathogenesis, risk factors, and therapeutic targets of post-stroke seizures.
Acta Epileptologica, Volume 3, pp 1-9; doi:10.1186/s42494-021-00048-y
Epilepsy is a common neurological disease caused by synchronous firing of hyperexcitable neurons. Currently, anti-epileptic drugs remain the main choice to control seizure, but 30% of patients are resistant to the drugs, which calls for more research on new promising targets. Neuroinflammation is closely associated with the development of epilepsy. As an important inflammatory factor, high mobility group protein B1 (HMGB1) has shown elevated expression and an increased proportion of translocation from the nucleus to the cytoplasm in patients with epilepsy and in multiple animal models of epilepsy. HMGB1 can act on downstream receptors such as Toll-like receptor 4 and receptor for advanced glycation end products, thereby activating interleukin (IL)-1β and nuclear factor kappa-B (NF-κB), which in turn act with glutamate receptors such as the N-methyl-D-aspartate (NMDA) receptors to aggravate hyperexcitability and epilepsy. The hyperexcitability can in turn stimulate the expression and translocation of HMGB1. Blocking HMGB1 and its downstream signaling pathways may be a direction for antiepileptic drug therapy. Here, we review the changes of HMGB1-related pathway in epileptic brains and its role in the modulation of neuronal excitability and epileptic seizure. Furthermore, we discuss the potentials of HMGB1 as a therapeutic target for epilepsy and provide perspective on future research on the role of HMGB1 signaling in epilepsy.
Acta Epileptologica, Volume 3, pp 1-1; doi:10.1186/s42494-021-00046-0
Acta Epileptologica, Volume 3, pp 1-5; doi:10.1186/s42494-021-00045-1
Background Surgical treatment for patients with adult-onset Rasmussen’s encephalitis (A-RE) is rarely reported. We investigated the clinical and surgical features of two patients with A-RE who underwent functional hemispherectomy. Case presentation The data of clinical manifestations, neuroimaging, surgical treatment and surgical outcomes of two patients with A-RE was reviewed. The two patients initially presented with recurrent partial seizures or secondly generalized tonic clonic seizures. Gradually, the patients showed unilateral limb paralysis as well as chronic focal epileptic status. Both patients underwent functional hemispherectomy and achieved seizure freedom in the follow-up. The contralateral neurological deficits improved gradually after rehabilitation and were acceptable for the self-care of daily living. The living quality improved prominently after surgery. Conclusions Despite the risk of hemiplegia, functional hemispherectomy may be a choice for patients with A-RE for favorable seizure control and improved quality of life in selected patients.
Acta Epileptologica, Volume 3, pp 1-6; doi:10.1186/s42494-021-00044-2
Human herpes virus 6 (HHV-6) is a ubiquitous and most common pathogen that affects humans. Human herpes virus 6B (HHV-6B) is a wide spread human herpesvirus that infects most people when they are children, establishes latent infections in the central nervous system (CNS), especially in the hippocampus and amygdala, and induces neurologic diseases. HHV-6 can establish a latent infection and be reactivated by various stimuli. Recently, viral genomic DNA of HHV-6B has been detected in surgically removed brain tissues of intractable epilepsy patients, suggesting the involvement of HHV-6B in the pathogenesis of epilepsy. Temporal lobe epilepsy (TLE) has been shown to be closely related with HHV-6B. TLE patients with HHV-6B in their brains suffer from reiterative attacks of febrile seizures and hippocampal sclerosis. However, the mechanisms underlying the contribution of this virus to the development of TLE remains unknown. The direct damage and immune activation caused by the virus are involved in the process of neuron damage, abnormal neural circuit formation and glial cell proliferation. In addition, some cytokines like interleukin-17A (IL-17A), nuclear factor-kappa B (NF-κb), transforming growth factor-β (TGF-β), mitogen-activated protein kinase (MAPK) and phospholipase A2 are up-regulated and involved in the pathological process of TLE. More studies are needed to clarify the mechanisms underlying the link between HHV-6B and epilepsy, and identify biomarkers to recognize different patient groups for anti-inflammatory or immunomodulatory therapies.
Acta Epileptologica, Volume 3, pp 1-7; doi:10.1186/s42494-021-00043-3
Background We performed this meta-analysis to investigate the association between GABRG2 rs211037polymorphism and the risk for idiopathic generalized epilepsies (IGEs). Methods Medline, Embase, Cochrane Library and Chinese National Knowledge Infrastructure (CNKI) databases were searched for eligible studies (until May 5, 2020) on the association between GABRG2 rs211037 polymorphism and IGE. The odds ratios were calculated using a fixed or random model in STATA 15.0 software. Subgroup analyses for ethnicity, age, source of controls, type of seizure syndrome and therapeutic responses were conducted. Results We found no significant associations between GABRG2 rs211037 polymorphism and the susceptibility to IGEs. In addition, no significant association was detected between GABRG2 rs211037 polymorphism and drug resistance in IGE patients. The results did not change after stratification by Asian population, healthy controls, children, juvenile myoclonic epilepsy, and childhood absence epilepsy. Conclusion The current studies indicated that the GABRG2 rs211037 polymorphism was not related to susceptibility or drug resistance of IGE. Further well-designed studies are needed to verify the results.
Acta Epileptologica, Volume 3, pp 1-12; doi:10.1186/s42494-021-00042-4
Background This study was designed to characterize human PRRT2 gene and protein, in order to provide theoretical reference for research on regulation of PRRT2 expression and its involvement in the pathogenesis of paroxysmal kinesigenic dyskinesia and other related diseases. Method Biological softwares Protparam, Protscale, MHMM, SignalP 5.0, NetPhos 3.1, Swiss-Model, Promoter 2.0, AliBaba2.1 and EMBOSS were used to analyze the sequence characteristics, transcription factors of human PRRT2 and their binding sites in the promoter region of the gene, as well as the physicochemical properties, signal peptides, hydrophobicity property, transmembrane regions, protein structure, interacting proteins and functions of PRRT2 protein. Results (1) Evolutionary analysis of PRRT2 protein showed that the human PRRT2 had closest genetic distance from Pongo abelii. (2) The human PRRT2 protein was an unstable hydrophilic protein located on the plasma membrane. (3) The forms of random coil (67.65%) and alpha helix (23.24%) constituted the main secondary structure elements of PRRT2 protein. There were also multiple potential phosphorylation sites in the protein. (4) The results of ontology analysis showed that the cellular component of PRRT2 protein was located in the plasma membrane; the molecular function of PRRT2 included syntaxin-1 binding and SH3 domain binding; the PRRT2 protein is involved in biological processes of negative regulation of soluble NSF attachment protein receptor (SNARE) complex assembly and calcium-dependent activation of synaptic vesicle fusion. (5) String database analysis revealed 10 proteins with close interactions with the human PRRT2 protein. (6) There were at least two promoter regions in the PRRT2 gene within 2000 bp upstream the 5' flank, a 304-bp CpG island in the promoter region and four GC boxes in the 5' regulatory region of PRRT2 gene and we found 13 transcription factors that could bind the promoter region of the PRRT2 gene. Conclusion These results provide important information for further studies on the role of PRRT2 gene and identify their functions.
Acta Epileptologica, Volume 3, pp 1-8; doi:10.1186/s42494-021-00041-5
Background The alien hand phenomenon (AHP) is a rare disorder of involuntary limb movement together with a loss of sense of limb ownership. AHP occurs as a consequence of frontal, callosal, or posterior cerebral lesions. To characterize the phenomenon of AHP, three patients with paroxysmal AHP were described and proved to be focal seizures by using video-EEG monitoring. Method Clinical history of 3 epileptic patients with AHP was collected. EEG and MRI were performed in each patient. One patient completed EEG monitoring and postoperative pathological examination. We also review the recent literatures and summarize the characteristics, types and hypothetic mechanisms of epileptic AHP. Results Case 1 had AHP of the left arm followed by the left arm convulsion or AHP only. MRI imaging showed a lesion in the posterior parietal lobe. After complete resection of the lesion, he remained seizure free for 1.5 years. Cases 2 and 3 had AHP and convulsion. The three cases did not have auto-motor signs, so they were identified to be the posterior type of APH. Conclusions The mechanism underlying AHP remains poorly .understood. Currently, little is known for the epileptic paroxysmal AHP, a quite rare form of AHP. AHP can be represented before or immediately after convulsion, or be represented by the paroxysmal symptom only.
Acta Epileptologica, Volume 3, pp 1-7; doi:10.1186/s42494-021-00040-6
Picornaviridae are a family of small positive-strand RNA viruses, and transmitted via the respiratory or fecal-oral route. The neurotropic picornaviruses can induce acute or late recurrent seizures following central nervous system infection, by infecting the peripheral nerve, crossing the blood-brain barrier and migrating in the Trojan-horse method. Theiler’s murine encephalomyelitis virus (TMEV), as a member of Picornaviridae family, can cause encephalitis, leading to chronic spontaneous seizures. TMEV-infected C57BL/6 mice have been used as an animal model for exploring the mechanism of epileptogenesis and assessing new antiepileptic drugs. Astrogliosis, neuronal death and microglial recruitment have been detected in the hippocampus following the picornaviruse-induced encephalitis. The macrophages, monocytes, neutrophils, as well as IL-6 and TNF-α released by them, play an important role in the epileptogenesis. In this review, we summarize the clinical characteristics of picornavirus infection, and the immunopathology involved in the TMEV-induced epilepsy.
Acta Epileptologica, Volume 3, pp 1-7; doi:10.1186/s42494-021-00038-0
Background Emerging evidence has implied that the GABRG2 gene play a role in the mechanism of febrile seizure (FS), however, the relationship between GABRG2 rs211037 polymorphism and the risk of FS remains controversial. This meta-analysis was conducted to investigate the relationship of GABRG2 rs211037 polymorphism with the susceptibility to FS. Methods MEDLINE, Embase, Cochrane Library and CNKI databases were searched (until April 6, 2019) for eligible studies on the relationship between GABRG2 rs211037 polymorphism and FS. We calculated the odds ratios (ORs) by a fixed or random model with the STATA 15.0 software. Subgroup analyses for the ethnicity, the source of the control, and age and sex matching of controls were conducted. Results A total of 8 studies consisting of 775 FS patients and 5162 controls were included in this study. Based on the overall data, he GABRG2 rs211037 polymorphism was not significantly associated with the risk of FS (TT + CT vs CC: OR = 0.95, 95%CI 0.64–1.41, P = 0.80). Notably, the GABRG2 rs211037 variant was significantly associated with decreased risk of FS in Asian populations (TT vs CT + CC: OR = 0.63, 95%CI 0.45–0.88, P = 0.006), but increased risk in Caucasian populations (CT vs CC: OR = 1.56, 95%CI 1.14–2.15, P = 0.006). Significant associations were also detected when healthy controls out of the whole controls were employed for comparison (TT vs CT + CC: OR = 0.59, 95% CI 0.45–0.77, P < 0.001) and when data from studies with age- and sex-matched controls were used (TT + CT vs CC: OR = 0.60, 95% CI 0.43–0.86, P = 0.001). Conclusion The GABRG2 rs211037 polymorphism may decrease the risk of FS in Asian populations, while increasing the risk in Caucasian populations. Further well-designed studies with large sample sizes are essential to verify the conclusions in other ethnicities.