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Biomolecular mechanisms of epileptic seizures and epilepsy: a review

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Acta Epileptologica 2023年第4期6卷 201-222页

作者： Komang Trisna Sumadewi Saktivi Harkitasari David Christopher Tjandra Anatomy-Histology Department Faculty of Medicine and Health ScienceWarmadewa UniversityDenpasar80235Indonesia Neurology Department Faculty of Medicine and Health ScienceWarmadewa UniversityDenpasar80235Indonesia Bachelor of Medicine Study Program Faculty of MedicineUdayana UniversityDenpasar80234Indonesia

epilepsy is a recurring neurological disease caused by the abnormal electrical activity in the brain. This disease has caused about 50 new cases in 100,000 populations every year with the clinical manifestations of awareness loss, bruising, and mobility abnormalities. Due to the lack understanding of the pathophysiology behind the illness, a wide variety of medications are available to treat epilepsy. Epileptogenesis is the process by which a normally functioning brain undergoes alterations leading to the development of epilepsy, involving various factors. This is related to the inflammation which is driven by cytokines like IL-1 and tumor necrosis factor-α (TNF-α) leads to neuronal hyperexcitability. Pro-inflammatory cytokines from activated microglia and astrocytes in epileptic tissue initiate an inflammatory cascade, heightening neuronal excitability and triggering epileptiform activity. The blood-brain barrier (BBB) maintains central nervous system integrity through its tight endothelial connections, but inflammation impact BBB structure and function which leads to immune cell infiltration. The mammalian target of rapamycin (mTOR) pathway’s excessive activation influences epileptogenesis, impacting neuronal excitability, and synapse formation, with genetic mutations contributing to epilepsy syndromes and the modulation of autophagy playing a role in seizure onset. The apoptotic pathway contribute to cell death through glutamate receptor-mediated excitotoxicity, involving pro-apoptotic proteins like p53 and mitochondrial dysfunction, leading to the activation of caspases and the disruption of calcium homeostasis. Ionic imbalances within neural networks contribute to the complexity of epileptic seizures, involving alterations in voltage-gated sodium and potassium channels, and the formation of diverse ion channel subtypes. Epileptogenesis triggers molecular changes in hippocampus, including altered neurogenesis and enhanced expression of neurotrophic factors and p

关键词： Epilectic seizures epilepsy Epileptogenesis Molecular mechanism

Effective treatment of NR2F1-related epilepsy with perampanel

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Acta Epileptologica 2023年第4期6卷 238-255页

作者： Xiao Li Kai Gao Yutang Li Yuehua Zhang Han Zhang Yuwu Jiang Department of Pediatrics Peking University First HospitalBeijing100034China Beijing Key Laboratory of Molecular Diagnosis and Study On Pediatric Genetic Diseases Beijing100034China Key Laboratory for Neuroscience Ministry of Education/National Health and Family Planning CommissionPeking UniversityBeijing100034China Institute for Brain Disorders Beijing100034China Rehabilitation Department Women and Children’sHealth Care Hospital of Yantai ZhifuYantai264000China

Background NR2F1 mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome(BBSOAS).Although~46.7%of BBSOAS patients present with epilepsy,which is always drug-resistant and associated with higher rates of behavioral and cognitive problems,the treatment and outcomes of NR2F1-related epilepsy have rarely been ***,we present new cases of BBSOAS-related epilepsy and summarize all previously reported cases to explore the effective treatment for this type of *** We identified six new Chinese cases of BBSOAS with *** different de novo heterozygous NR2F1 mutations were identified in these cases,including two novel mutations c.365G>T,***122Phe and c.449G>T,*** combining the six cases and 14 previously reported cases,we analyzed the characteristics and treatment outcomes of NR2F1-related *** Twelve of the 20 patients(60%)had infantile epileptic spasms,while the other patients had generalized tonic/tonic-clonic,focal,myoclonic,absence,or unclassified *** anti-seizure medications,steroids,and a ketogenic diet were administered in these ***,seizures were controlled in only 50%of previously reported cases,while all of the six new cases became seizure-free after perampanel as an add-on *** average time from the addition of perampanel to seizure control was 7.33±4.59 months(range,1–12 months).The median time to seizure freedom was 14 months(1–32 months,>19 months in 3 cases).The average dosage of perampanel needed for epilepsy control was 0.22±0.17 mg/kg per *** In this paper,we comprehensively summarized the clinical characteristics,treatments and outcomes of NR2F1-related epilepsy for the first *** exhibits dramatic efficacy for NR2F1-related *** will help optimize the treatment of this type of epilepsy and provide clues for its pathogenic *** two novel mutations expand the genotype spectrum of this disease.

关键词： NR2F1 epilepsy Bosch-Boonstra-Schaaf optic atrophy syndrome Perampanel Infantile spasm

Gene variations of glutamate metabolism pathway and epilepsy

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Acta Epileptologica 2022年第2期5卷 105-119页

作者： Yan Feng Cuirong Zhang Zihan Wei Guoyan Li Yajing Gan Chao Liu Yanchun Deng Xi’an Medical University Xi’an710021China Department of Neurology Epilepsy Center of Xijing HospitalFourth Military Medical UniversityXi’an710032China Department of Neurology QinHuang HospitalXi’an710600China

Background epilepsy is a paroxysmal disorder of the brain,caused by an imbalance of neuronal excitation and *** is the most important excitatory neurotransmitter in the brain and plays an important role in *** in genes at any step/component of the glutamate metabolic pathway may lead to the development of epilepsy or epileptic *** Clinical history of 3 epilepsy patients with genetic variations of the glutamate metabolism pathway was *** recording and magnetic resonance imaging were performed in each *** also reviewed recent literature for a variety of the genetic variations involved in *** Case 1 was a SLC1A2 mutation-carrier diagnosed with developmental and epileptic encephalopathy(DEE)41,whose seizures decreased after start of the ketogenic *** 2 carried a GRIN2A gene mutation and was seizure-free for three years after taking levetiracetam and vitamin *** 3 was a GRIN2B mutation-carrier diagnosed with DEE 27,who seizures diminished after taking *** Preclinical and clinical evidence supports the therapeutic potential of glutamatergic signaling-targeting treatments for *** studies are needed to discover novel DEE-related genetic mutations in the glutamate metabolic pathway.

关键词： Glutamate epilepsy Developmental and epileptic encephalopathy

Heterogeneity in susceptibility to polycystic ovary syndrome among women with epilepsy

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Acta Epileptologica 2023年第2期6卷 100-106页

作者： Leihao Sha Yiming Wu Wanlin Lai Yifei Duan Yilin Xia Lei Chen Department of Neurology Joint Research Institution of Altitude HealthWest China HospitalSichuan UniversityNo.37 Guo Xue XiangChengduSichuan 610041PR China

Background epilepsy comorbidities adversely affect the quality of life of *** with epilepsy are at a high risk of comorbid endocrine *** them,the polycystic ovary syndrome(PCOS)has a threefold higher prevalence in women with epilepsy than in healthy women and is the main cause of infertility among the ***,women with epilepsy show heterogeneity in the susceptibility to *** heterogeneity may be associated with genetic *** To test this,we retrospectively collected clinical data from 45 female patients with epilepsy and divided them into three groups according to their susceptibility to *** A and B represented a high susceptibility to *** in Group A were diagnosed with PCOS before their first seizure,while patients in Group B were diagnosed with PCOS after a short period of monotherapy with a low dose of antiseizure medication(ASM)following the diagnosis of *** in Group C did not develop PCOS despite a prolonged treatment with high-dose *** compared the clinical data and genetic profiles among the three *** We found a clear trend of impaired metabolism in Group B patients and this may be associated with highfrequency mutations in MYO10 and *** Our study suggests that women with epilepsy are heterogeneous in the susceptibility to PCOS and this is associated with mutations in specific ***,genetic screening should be conducted to screen for women with epilepsy who are more likely to have comorbid PCOS,so that they can receive targeted interventions at an early stage to reduce the risk.

关键词： epilepsy Polycystic ovary syndrome Gene Impaired metabolism

Therapeutic efficacy of voltage‑gated sodium channel inhibitors in epilepsy

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Acta Epileptologica 2023年第2期6卷 65-85页

作者： John Agbo Zainab G.Ibrahim Shehu Y.Magaji Yahkub Babatunde Mutalub Philemon Paul Mshelia Daniel H.Mhyha Department of Clinical Pharmacology and Therapeutics Faculty of Basic Clinical SciencesCollege of Medical SciencesAbubakar Tafawa Balewa UniversityBauchi 740272Nigeria Department of Physiology Faculty of Basic Medical ScienceCollege of Medical SciencesAbubakar Tafawa Balewa UniversityBauchi 740272Nigeria Department of Medical Biochemistry Faculty of Basic Medical ScienceCollege of Medical SciencesAbubakar Tafawa Balewa UniversityBauchi 740272Nigeria

epilepsy is a neurological disease characterized by excessive and abnormal hyper-synchrony of electrical discharges of the brain and a predisposition to generate epileptic seizures resulting in a broad spectrum of neurobiological insults,imposing psychological,cognitive,social and also economic burdens to the ***-gated sodium channels(VGSCs)are essential for the generation and propagation of action potentials throughout the central nervous *** of these channels has been implicated in the pathogenesis of *** inhibitors have been demonstrated to act as anticonvulsants to suppress the abnormal neuronal firing underlying epileptic seizures,and are used for the management and treatment of both genetic-idiopathic and acquired *** discuss the forms of idiopathic and acquired epilepsies caused by VGSC mutations and the therapeutic efficacy of VGSC blockers in idiopathic,acquired and pharmacoresistant forms of epilepsy in this *** conclude that there is a need for better alternative therapies that can be used alone or in combination with VGSC inhibitors in the management of *** current anti-seizure medications(ASMs)especially for pharmacoresistant epilepsies and some other types of epilepsy have not yielded expected therapeutic efficacy partly because they do not show subtype-selectivity in blocking sodium channels while also bringing side ***,there is a need to develop novel drug cocktails with enhanced selectivity for specific VGSC isoforms,to achieve better treatment of pharmacoresistant epilepsies and other types of epileptic seizures.

关键词： epilepsy Voltage-gated sodium channels Idiopathic epilepsy Acquired epilepsy Anti-seizure medications Pharmacoresistant epilepsy

The impact of serum copper on the risk of epilepsy:a mendelian randomization study

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Acta Epileptologica 2023年第2期6卷 107-112页

作者： Shihao Chen Wenting Huang Qi Xu Tao He Mulan Zhang Huiqin Xu Department of Neurology The First Affiliated Hospital of Wenzhou Medical UniversityWenzhou 325000China

Background The relationship between serum copper and epilepsy has been elucidated in observational *** this study,we aimed to explore the causal relationship between serum copper and epilepsy using Mendelian randomization(MR)*** Single nucleotide polymorphisms(SNPs)associated with serum copper were used as instrumental variables for MR analysis to evaluate their causal effects on *** main MR results were obtained by using the inverse variance weighting(IVW)method,supplemented by weighted median and MR-Egger *** addition,sensitivity analyses such as Cochran’s Q test and pleiotropy test were used to assess these SNPs on epilepsy in terms of horizontal pleiotropy and *** The IVW method revealed that the serum copper was associated with an increased risk of generalized epilepsy(OR=1.07;95%CI 1.01-1.14;P=0.032),and the sensitivity analysis further supports the robustness of the *** The current study reveals a possible causal role for serum copper in increasing the risk of generalized epilepsy,which provide guidance for identifying potential risk factors for epilepsy.

关键词： Serum copper epilepsy Mendelian randomization Genome-wide association studies Single nucleotide polymorphisms

Knowledge,attitudes and practices concerning epilepsy among nurses and midwives working in primary health care settings in Ouagadougou of Burkina Faso

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Acta Epileptologica 2023年第2期6卷 90-99页

作者： Alfred Anselme Dabilgou Alassane Dravé Julie Marie Adeline Wendlamita Kyelem Fatimata Kinda Christian Napon Athanase Millogo Jean Kaboré Department of Neurology University Hospital Yalgado OuedraogoBox 7022Ouagadougou 03Burkina Faso Department of Neurology Regional University Hospital of Ouahigouya03 BP 7009 Ouagadougou 03Burkina Faso Department of Neurology University Hospital of Bogodogo14 Box 371Ouagadougou 14Burkina Faso Department of Neurology Souro Sanou University Teaching Hospital01Box 676Bobo DioulassoBurkina Faso

Background In developing countries,there is a lack of epilepsy knowledge among health *** objective of this study was to assess the knowledge,attitude and practice concerning epilepsy among nurses and midwives working in primary health care settings in *** We carried out a cross-sectional study in the health districts of Ouagadougou from August 1st to September 15th,*** nurses and midwives working in three health districts were included in this *** A total of 213 participants with a mean age of 39.5 years were included in the survey;79.81%of them had a general certification in secondary education and 62%had a professional experience of more than 10 *** 99%of the participants had not received training on epilepsy-related care during the last six *** addition,74.5%of the participants had a good knowledge on epilepsy and 65%had a good practice toward *** level of knowledge was associated with the workplace,years of training,and the professional *** level of knowledge about epilepsy was also associated with the level of education,while there was a significant link between professional status and nurses’level of practice in the management of *** Efforts must be made to provide continuing education for nurses in order to improve their knowledge on epilepsy.

关键词： epilepsy Knowledge Attitude Practice Paramedics Ouagadougou Burkina

A case of migraine misdiagnosed as epilepsy

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Acta Epileptologica 2023年第1期6卷 52-55页

作者： Yuting Yang Xi Peng Yangmei Chen Chongqing Medical University Chongqing 400010China

Background:Migraine and epilepsy are both episodic disorders,with some overlapping symptoms,mechanisms and ***,there is a comorbid relationship between *** migraine patients may exhibit epileptic discharges by electroencephalogram(EEG)***,the two conditions are easily *** presentation:We reported a 16-year-old female patient who was admitted to our hospital due to repeated headaches with disturbance of *** discharge was recorded by long-term *** patient had been misdiagnosed as epilepsy,and had no response to anti-seizure medicines(ASMs).We revised her diagnosis and prescribed ibuprofen in her acute episode and prophylactic medicine,including funarizine and amitriptyline in her interictal *** week later,her headache ***:This patient manifested with altered levels of consciousness during headache episodes,and the abnormal EEG results lead to the misdiagnosis as *** should be cautious to the distinction between migraine and epilepsy.

关键词： epilepsy Migraine Electroencephalogram

epilepsy dynamics of an astrocyte-neuron model with ammonia intoxication

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Chinese Physics B 2023年第2期32卷 128-135页

作者：袁治轩独盟盟于羊羊吴莹 State Key Laboratory for Strength and Vibration of Mechanical Structures Shaanxi Engineering Laboratory for Vibration Control of Aerospace StructuresSchool of Aerospace EngineeringXi'an Jiaotong UniversityXi'an 710049China School of Mathematics and Data Science Shaanxi University of Science and TechnologyXi'an 710000China

Experimental records in the cerebral cortex indicate that ammonia injection can lead to seizures. Considering that astrocytes play a vital role in mediating the uptake and absorption of ammonium ions in the extracellular space of the cortical circuit, we constructed a new astrocyte neuron coupling model, which is composed of a neuron and its astrocytes connected through the extracellular space, taking into account of the influence of extracellular ammonium ions. The numerical results verified the previous experimental observation that obtained epileptic firing modes of neurons and postsynaptic GABA reversal potential depolarization triggered by ammonia injection. In addition, we also determined the concentration–response relationship between the ammonium ion concentration and the time of entering epilepsy and predicted the threshold of the ammonium ion concentration for the onset of epilepsy.

关键词： ammonia neuron astrocyte epilepsy