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1.
Zhonghua Er Ke Za Zhi ; 59(5): 387-392, 2021 May 02.
Artigo em Chinês | MEDLINE | ID: mdl-33902223

RESUMO

Objective: To investigate the etiology of epilepsy onset before 6 months old and improve clinical understanding. Methods: The medical history, electroencephalogram, brain imaging, genetic examination and other clinical data of 340 patients who were diagnosed with epilepsy with onset under 6 months of age and were hospitalized in the Department of Neurology, Beijing Children's Hospital, Capital Medical University between January 2017 and December 2018 were retrospectively analyzed. Rank sum test was used to compare the ages of onset of different etiologic groups. Results: Of the 340 patients, 196 were males and 144 were females. The age of onset was 90.5 (48.0, 135.5) days. In the 250 (73.5%) underwent genetic test, 103 (41.2%) had pathogenic or likely pathogenic variants, involving 43 single gene variants and 2 chromosomal abnormalities. Seventy-nine patients (23.2%) had genetic etiology, 66 (19.4%) had structural etiology, 19 (5.6%) had metabolic etiology, 13 (3.8%) had multiple etiologies, and 163 (47.9%) had unknown etiology. In the 79 cases with genetic etiology, 30 single gene variants were detected, including 19 cases of PRRT2, 10 cases of KCNQ2, 7 cases of SCN1A, 6 cases of SCN2A, 6 cases of STXBP1, 5 cases of CDKL5, 2 cases of ARX, and 1 case of each of 23 gene variants. Two cases had chromosomal abnormalities which were 21-trisomy and 16p11.2 microdeletion syndrome respectively. Among the 66 cases with structural etiologies, 37 cases had acquired factors such as perinatal brain injury, 28 cases had congenital factors such as cortical malformation and 1 case was perinatal brain injury combined megalencephaly. The onset age of genetic etiology was 95 (26, 128) days, that of structural etiology was 90 (58, 30) days, and that of metabolic etiology was 57 (30, 90) days. The onset age of metabolic etiology was earlier than that of structural etiology (U=436.500, P=0.044). Conclusions: Genetic etiology is the most common defined etiology of infants with early-onset epilepsy aged 0-6 months, and there are certain differences in the age of onset between different etiologies. Proper application of genetic test is helpful to identify the etiology and guide treatment.


Assuntos
Epilepsia , Espasmos Infantis , Epilepsia/etiologia , Epilepsia/genética , Feminino , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Estudos Retrospectivos , Espasmos Infantis/etiologia , Espasmos Infantis/genética
2.
Int J Mol Sci ; 22(6)2021 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-33808762

RESUMO

Epilepsy is characterized by recurrent seizures due to abnormal hyperexcitation of neurons. Recent studies have suggested that the imbalance of excitation and inhibition (E/I) in the central nervous system is closely implicated in the etiology of epilepsy. In the brain, GABA is a major inhibitory neurotransmitter and plays a pivotal role in maintaining E/I balance. As such, altered GABAergic inhibition can lead to severe E/I imbalance, consequently resulting in excessive and hypersynchronous neuronal activity as in epilepsy. Phospholipase C (PLC) is a key enzyme in the intracellular signaling pathway and regulates various neuronal functions including neuronal development, synaptic transmission, and plasticity in the brain. Accumulating evidence suggests that neuronal PLC is critically involved in multiple aspects of GABAergic functions. Therefore, a better understanding of mechanisms by which neuronal PLC regulates GABAergic inhibition is necessary for revealing an unrecognized linkage between PLC and epilepsy and developing more effective treatments for epilepsy. Here we review the function of PLC in GABAergic inhibition in the brain and discuss a pathophysiological relationship between PLC and epilepsy.


Assuntos
Epilepsia/etiologia , Epilepsia/metabolismo , Receptores de GABA/metabolismo , Fosfolipases Tipo C/metabolismo , Ácido gama-Aminobutírico/metabolismo , Animais , Anticonvulsivantes/farmacologia , Anticonvulsivantes/uso terapêutico , Biomarcadores , Suscetibilidade a Doenças , Epilepsia/diagnóstico , Epilepsia/tratamento farmacológico , Antagonistas GABAérgicos/farmacologia , Antagonistas GABAérgicos/uso terapêutico , Humanos , Isoenzimas , Transdução de Sinais/efeitos dos fármacos , Sinapses/metabolismo , Transmissão Sináptica
3.
Artigo em Inglês | MEDLINE | ID: mdl-33530431

RESUMO

Background: Epilepsy associated with strokes is a significant clinical and public health problem and has a negative impact on prognosis and clinical outcome. A late epileptic seizure occurring seven days after stroke is actually equated with poststroke epilepsy due to the high risk of recurrence. Predictive models evaluated in the acute phase of stroke would allow for the stratification and early selection of patients at higher risk of developing late seizures. Methods: The most relevant papers in this field were reviewed to establish multifactorial predictors of late seizures and attempt to standardize and unify them into a common prognostic model. Results: Clinical and radiological factors have become the most valuable and reproducible predictors in many reports, while data on electroencephalographic, genetic, and blood biomarkers were limited. The existing prognostic models, CAVE and SeLECT, based on relevant, readily available, and routinely assessed predictors, should be validated and improved in multicenter studies for widespread use in stroke units. Conclusions: Due to contradictory reports, a common and reliable model covering all factors is currently not available. Further research might refine forecasting models by incorporating advanced radiological neuroimaging or quantitative electroencephalographic analysis.


Assuntos
Epilepsia , Acidente Vascular Cerebral , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Epilepsia/etiologia , Humanos , Prognóstico , Fatores de Risco , Convulsões/diagnóstico , Convulsões/epidemiologia , Convulsões/etiologia
4.
Adv Clin Exp Med ; 30(1): 29-34, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33529504

RESUMO

BACKGROUND: Cerebrovascular disease is an important cause of epilepsy. The incidence may significantly vary (from 2.3% to 43%). Post-stroke seizures occur within 2 weeks of stroke onset (as early-onset seizures) or 2 weeks after a stroke (as late-onset seizures). OBJECTIVES: To retrospectively evaluate and differentiate predictive factors for post-stroke seizures. MATERIAL AND METHODS: We retrospectively analyzed the medical histories of 164 adult patients diagnosed with post-stroke seizures but no epilepsy recognized prior to the stroke who were hospitalized at the Neurology Clinic of Wroclaw Medical University between 2012 and 2018. The seizures were classified according to the criteria of the International League Against Epilepsy (ILAE) from 2017. The relevant demographic data, type of stroke (ischemic/hemorrhagic), time of occurrence of seizures in relation to the type of stroke, score on the modified Rankin Scale, presence of cardiovascular risk factors, electroencephalography (EEG) recording, and antiepileptic treatment (AED) were collected. In the case of ischemic stroke (IS), the size of the stroke lesion was rated on the ASPECTS scale. RESULTS: The study involved 164 patients (average age = 68.83 years), including 86 men (average age = 66.2 years). In 20 out of 164 patients, the seizures were associated with hemorrhagic stroke (HS); in 144 out of 164 patients, the post-stroke epilepsy was associated with IS. Generalized tonic-clonic seizures occurred in 101 out of 164 patients, focal aware seizures occurred in 19 out of 164 patients and focal impaired-awareness seizures occurred in 44 out of 164 patients. CONCLUSIONS: Our study has confirmed that generalized seizures occur mostly after an IS and are late complications of it. Early-onset seizures occur mostly after HS associated with severe disability. Seizures are more likely to happen due to the cortical location of the stroke. There is a shift from generalized to focal seizures with an increase in the extent of IS as evaluated using the ASPECTS scale.


Assuntos
Epilepsia , Acidente Vascular Cerebral , Idoso , Anticonvulsivantes , Eletroencefalografia , Epilepsia/tratamento farmacológico , Epilepsia/epidemiologia , Epilepsia/etiologia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Convulsões/tratamento farmacológico , Convulsões/epidemiologia , Convulsões/etiologia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/tratamento farmacológico
5.
Neurology ; 96(10): e1443-e1452, 2021 03 09.
Artigo em Inglês | MEDLINE | ID: mdl-33495377

RESUMO

OBJECTIVE: To develop a diagnostic test that stratifies epileptic seizures (ES) from psychogenic nonepileptic seizures (PNES) by developing a multimodal algorithm that integrates plasma concentrations of selected immune response-associated proteins and patient clinical risk factors for seizure. METHODS: Daily blood samples were collected from patients evaluated in the epilepsy monitoring unit within 24 hours after EEG confirmed ES or PNES and plasma was isolated. Levels of 51 candidate plasma proteins were quantified using an automated, multiplexed, sandwich ELISA and then integrated and analyzed using our diagnostic algorithm. RESULTS: A 51-protein multiplexed ELISA panel was used to determine the plasma concentrations of patients with ES, patients with PNES, and healthy controls. A combination of protein concentrations, tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), intercellular adhesion molecule 1 (ICAM-1), monocyte chemoattractant protein-2 (MCP-2), and tumor necrosis factor-receptor 1 (TNF-R1) indicated a probability that a patient recently experienced a seizure, with TRAIL and ICAM-1 levels higher in PNES than ES and MCP-2 and TNF-R1 levels higher in ES than PNES. The diagnostic algorithm yielded an area under the receiver operating characteristic curve (AUC) of 0.94 ± 0.07, sensitivity of 82.6% (95% confidence interval [CI] 62.9-93.0), and specificity of 91.6% (95% CI 74.2-97.7). Expanding the diagnostic algorithm to include previously identified PNES risk factors enhanced diagnostic performance, with AUC of 0.97 ± 0.05, sensitivity of 91.3% (95% CI 73.2-97.6), and specificity of 95.8% (95% CI 79.8-99.3). CONCLUSIONS: These 4 plasma proteins could provide a rapid, cost-effective, and accurate blood-based diagnostic test to confirm recent ES or PNES. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that variable levels of 4 plasma proteins, when analyzed by a diagnostic algorithm, can distinguish PNES from ES with sensitivity of 82.6% and specificity of 91.6%.


Assuntos
Proteínas Sanguíneas/análise , Encefalite/sangue , Encefalite/complicações , Epilepsia/etiologia , Convulsões/etiologia , Adolescente , Adulto , Algoritmos , Anticonvulsivantes/uso terapêutico , Área Sob a Curva , Diagnóstico Diferencial , Eletroencefalografia , Epilepsia/tratamento farmacológico , Feminino , Humanos , Masculino , Transtornos Mentais/etiologia , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Convulsões/tratamento farmacológico , Adulto Jovem
6.
Epilepsy Behav ; 115: 107634, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33334717

RESUMO

OBJECTIVE: Late-onset epilepsy (LOE) is closely associated with cerebrovascular disease, acting as both a marker of cerebrovascular disease (CVD) and occurring as a direct consequence. Despite this, our understanding of LOE as a cerebrovascular phenomenon is in its infancy. LOE also appears to be a harbinger of dementia. METHODS: A systematic review was performed to identify publications relating to LOE and identified observational studies, clinical studies, and radiological studies. RESULTS: A meta-analysis of observational studies demonstrated that patients presenting with LOE experience an increased risk of subsequent stroke (weighted OR 3.88 (95% CI 2.76-5.46)). The additional studies demonstrated clinical and radiological evidence to support the premise that LOE is likely to reflect underlying cerebrovascular disease. SIGNIFICANCE: Cerebrovascular disease risk factors convey increased risk of LOE and LOE can precede stroke and dementia, acting as an early marker for cerebrovascular risk. This may represent a potential point for intervention. There are a number of suggested mechanisms relating LOE to stroke; however, there is limited understanding of the natural history of LOE. Current data support the need for prospective research in order to understand the natural history of LOE and modify disease, in order to reduce the apparent sequelae of stroke and dementia.


Assuntos
Transtornos Cerebrovasculares , Epilepsia , Acidente Vascular Cerebral , Transtornos Cerebrovasculares/complicações , Transtornos Cerebrovasculares/diagnóstico por imagem , Epilepsia/etiologia , Humanos , Estudos Prospectivos , Fatores de Risco , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico por imagem
7.
Neurology ; 96(6): 274-286, 2021 02 09.
Artigo em Inglês | MEDLINE | ID: mdl-33361266

RESUMO

BACKGROUND: Meningioangiomatosis is a poorly studied, rare, benign, and epileptogenic brain lesion. OBJECTIVE: To demonstrate that surgical resection and a short-time interval to surgery improves epileptic seizure control, we performed a systematic review and meta-analysis of meningioangiomatosis cases. METHODS: Using PRISMA-IPD guidelines, the authors performed a systematic review and meta-analysis of histopathologically-proven meningioangiomatosis cases. Literature search in French and English languages (PubMed, Embase, the Cochrane Library, and the Science Citation Index) including all studies (January 1981 to June 2020) dealing with histopathologically-proven meningioangiomatosis, without age restriction. We assessed clinical, imaging, histomolecular, management, and outcome findings of patients with meningioangiomatosis. RESULTS: Two-hundred and seven cases of meningioangiomatosis from 78 studies were included. Most meningioangiomatosis was sporadic, preferentially concerned male patients, younger than 20 years old, and allowed a functionally independent status. Epileptic seizure was the main symptom, with 81.4% of patients having uncontrolled seizures at the time of surgery. Meningioangiomatosis mainly had frontal (32.3%) or temporal (30.7%) locations. Imaging presentation was heterogeneous, and the diagnosis was often missed preoperatively. The histopathologic pattern was similar whatever the clinical presentation, and immunohistochemistry had limited diagnostic value. On molecular analysis, allelic loss at 22q12 was more frequent in samples of meningioangiomatosis-associated meningioma (37.5%) than in isolated meningioangiomatosis (23.1%). Time interval from diagnosis to surgery (p = 0.011) and lack of surgical resection of the meningioangiomatosis (p = 0.009) were independent predictors of postoperative seizure control. CONCLUSIONS: Owing to low scientific evidence, a multicentric prospective study should help refining the management of meningioangiomatosis.


Assuntos
Angiomatose , Encefalopatias , Epilepsia , Meninges , Angiomatose/complicações , Angiomatose/diagnóstico , Angiomatose/cirurgia , Encefalopatias/complicações , Encefalopatias/diagnóstico , Encefalopatias/cirurgia , Epilepsia/etiologia , Epilepsia/cirurgia , Humanos , Meninges/patologia
8.
J Clin Neurosci ; 83: 83-87, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33339690

RESUMO

INTRODUCTION: Recent research has shown that statins can reduce the incidence of epilepsy after stroke, especially ischemic stroke, but the results are inconsistent. In view of current stroke guidelines do not recommend the use of anti-epileptic drugs (AED) for the prevention of epilepsy after stroke, statins may be a good choice. The purpose of this study was to conduct a systematic review and meta-analysis to determine the effect of statins on the prevention of epilepsy after stroke. METHODS: Correlative cohort studies were identified through search of PubMed, Cochrane Library and Embase databases. The main outcomes included post-stroke epilepsy (PSE) and early-onset seizure (ES). Subgroup analyses and Sensitivity analysis were performed to evaluate the influences of the predefined study characteristics on the outcome. RESULTS: Seven studies were included (n = 40831). Statin use was associated with a lower risk of PSE (including 6 articles) (odds ratio [OR] 0.60, 95% confidence interval [CI] [0.42, 0.84], p = 0.003), and there is a remarkable effect in ES (including 6 articles) (OR 0.36, 95% CI [0.25, 0.54], p < 0.00001). CONCLUSION: Appropriate use of statins after stroke can reduce the risk of PSE, especially ES.


Assuntos
Epilepsia/etiologia , Epilepsia/prevenção & controle , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Acidente Vascular Cerebral/complicações , Humanos
9.
Medicine (Baltimore) ; 99(52): e23771, 2020 Dec 24.
Artigo em Inglês | MEDLINE | ID: mdl-33350762

RESUMO

BACKGROUND: Lesional and symptomatic causes of epilepsy are the most common neurological disorders of the brain. Topiramate effectively controls newly diagnosed epilepsy and refractory focal seizures, but high-dose topiramate does not improve seizure control. This study aimed to evaluate the clinical efficacy and safety of dose-escalated topiramate as first-line monotherapy and add-on therapy in patients with neurosurgery-related epilepsy. MATERIAL AND METHODS: A total of 55 neurosurgical patients with epilepsy were divided into monotherapy and add-on therapy groups and both groups received topiramate via the dose-escalation method. The primary efficacy outcomes were seizure-free rate and seizure response rate. Adverse events and seizure frequency were recorded. RESULTS: The seizure response rate in the first month of monotherapy was significantly better than that of add-on therapy (89% vs 65%, P < .05), but no significant differences were found in seizure response rates between the 2 groups after 2 months of treatment. Both monotherapy and add-on therapy were effective in controlling seizures, with mean seizure frequency of 0.725 vs 0.536 and seizure-free rate of 88% vs 78.6%. Both treatments showed good improvement of seizure frequency in patients without tumor. The efficacy of monotherapy was better than that of add-on therapy (80% vs 29.2%) in patients with body mass index (BMI) ≤24. However, add-on therapy was better than monotherapy (76.7% vs 21.4%) in patients with BMI > 24. Dizziness (25.5%) and headache (16.4%) were the most common adverse events. No severe adverse event such as cognitive impairment was observed. CONCLUSIONS: Dose-escalated topiramate monotherapy and add-on therapy demonstrate good efficacy and safety, with fewer adverse events in seizure control in neurosurgical patients.


Assuntos
Relação Dose-Resposta a Droga , Quimioterapia Combinada/métodos , Epilepsia , Procedimentos Neurocirúrgicos/efeitos adversos , Complicações Pós-Operatórias , Topiramato , Adulto , Anticonvulsivantes/administração & dosagem , Anticonvulsivantes/efeitos adversos , Monitoramento de Medicamentos/métodos , Epilepsia/diagnóstico , Epilepsia/tratamento farmacológico , Epilepsia/etiologia , Feminino , Humanos , Masculino , Avaliação de Processos e Resultados em Cuidados de Saúde , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/tratamento farmacológico , Topiramato/administração & dosagem , Topiramato/efeitos adversos , Resultado do Tratamento
10.
Rev. Hosp. Ital. B. Aires (2004) ; 40(4): 199-207, dic. 2020. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1145501

RESUMO

La encefalitis límbica es una enfermedad infrecuente y potencialmente grave, que puede o no ser paraneoplásica y se caracteriza por déficit de la memoria reciente, alteraciones psiquiátricas y convulsiones. De origen autoinmunitario, está asociada a anticuerpos séricos e intratecales contra antígenos neuronales intracelulares y de superficie, con especial afectación de zonas límbicas. En este artículo se revisan aspectos históricos y epidemiológicos, patogenia, síndromes más frecuentes y mejor delimitados, histopatología y estudios complementarios. Se repasan también las dificultades del diagnóstico diferencial y la necesidad de descartar siempre un tumor subyacente. La detección de autoanticuerpos neuronales es importante para el diagnóstico, la planificación terapéutica y el pronóstico. La inmunoterapia y, si corresponde, el tratamiento de la neoplasia son cruciales para lograr una recuperación neurológica sustancial. La encefalitis límbica es una entidad probablemente subdiagnosticada, con un pronóstico más favorable si se trata de forma temprana. El actual conocimiento de su patogenia puede además aportar claridad para la mejor comprensión de otros síndromes neurológicos y psiquiátricos que puedan compartir mecanismos autoinmunitarios, como algunos trastornos psicóticos y epilepsias farmacorresistentes. (AU)


Limbic encephalitis is a rare and potentially serious disease, which may or may not be paraneoplastic and is characterized by recent memory deficits, psychiatric disturbances and seizures. Of autoimmune origin, it is associated with serum and intrathecal antibodies against intracellular and surface neuronal antigens, with special involvement of limbic areas. This article reviews historical and epidemiological aspects, pathogenesis, more frequent and better defined syndromes, histopathology and complementary studies. The difficulties of differential diagnosis and the need to always rule out an underlying tumor are also reviewed. Detection of neuronal autoantibodies is important for diagnosis, therapeutic planning and prognosis. Immunotherapy and, if appropriate, neoplasm treatment, are crucial to achieve substantial neurological recovery. Limbic encephalitis is probably an underdiagnosed entity, with a more favorable prognosis if treated early. The current knowledge of its pathogenesis may also provide clarity for a better understanding of other neurological and psychiatric syndromes that may share autoimmune mechanisms, such as some psychotic disorders and drug-resistant epilepsies. (AU)


Assuntos
Humanos , Autoanticorpos/metabolismo , Doenças Autoimunes/patologia , Síndromes Paraneoplásicas do Sistema Nervoso/patologia , Encefalite Límbica/patologia , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/etiologia , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/etiologia , Doenças Autoimunes/terapia , Literatura de Revisão como Assunto , Síndromes Paraneoplásicas do Sistema Nervoso/diagnóstico , Síndromes Paraneoplásicas do Sistema Nervoso/etiologia , Síndromes Paraneoplásicas do Sistema Nervoso/terapia , Encefalite Límbica/diagnóstico , Encefalite Límbica/etiologia , Encefalite Límbica/história , Encefalite Límbica/terapia , Epilepsia/diagnóstico , Epilepsia/etiologia
11.
Medicine (Baltimore) ; 99(50): e23577, 2020 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-33327318

RESUMO

OBJECTIVE: Atorvastatin and aspirin have been used in treating different forms of epilepsy. However, their effect on post-stroke epilepsy (PSE) still needs to be validated by large-scale clinical studies. In addition, their impact on the use of the antiepileptic drug levetiracetam for post-stroke epilepsy remains to be explored. Thus, the aim of this study was to further evaluate the effect of atorvastatin and aspirin on PSE and their effect on the usage of the antiepileptic drug levetiracetam in PSE patients. METHODS: Patients, aged 65 to 85 years, with newly diagnosed post-ischemic stroke epilepsy from August 30, 2014 to August 30, 2018 were included in the study, with the exclusion of those with coexisting conditions. RESULTS: Initially, 1321 patients were included, and 780 remained in the study at the 1-year follow-up. During the study, atorvastatin treatment with or without aspirin reduced the number of clinical epileptic episodes in PSE patients. It also reduced the dosage of levetiracetam and achieved better control of epilepsy compared to levetiracetam mono-treatment. Aspirin co-treatment with levetiracetam did not result in a significant improvement. However, the combination of aspirin with atorvastatin significantly reduced the number of seizures compared to atorvastatin treatment alone. CONCLUSION: Atorvastatin and aspirin co-treatment with levetiracetam can reduce epilepsy in PSE patients and reduce the dosage of levetiracetam required for effective control of PSE.


Assuntos
Anticonvulsivantes/uso terapêutico , Aspirina/uso terapêutico , Atorvastatina/uso terapêutico , Epilepsia/tratamento farmacológico , Levetiracetam/uso terapêutico , Acidente Vascular Cerebral/complicações , Idoso , Idoso de 80 Anos ou mais , Anticonvulsivantes/administração & dosagem , Aspirina/administração & dosagem , Atorvastatina/administração & dosagem , Infarto Cerebral/complicações , Infarto Cerebral/patologia , Quimioterapia Combinada , Epilepsia/etiologia , Feminino , Humanos , Levetiracetam/administração & dosagem , Masculino , Índice de Gravidade de Doença , Acidente Vascular Cerebral/patologia
12.
Yakugaku Zasshi ; 140(10): 1207-1212, 2020.
Artigo em Japonês | MEDLINE | ID: mdl-32999199

RESUMO

T-type calcium channels are low-threshold voltage-gated calcium channel and characterized by unique electrophysiological properties such as fast inactivation and slow deactivation kinetics. All subtypes of T-type calcium channel (Cav3.1, 3.2 and 3.3) are widely expressed in the central nerve system, and they have an important role in homeostasis of sleep, pain response, and development of epilepsy. Recently, several reports suggest that T-type calcium channels may mediate neuronal plasticity in the mouse brain. We succeeded to develop T-type calcium channel enhancer ethyl 8'-methyl-2',4-dioxo-2-(piperidin-1-yl)-2'H-spiro[cyclopentane-1,3'-imidazo[1,2-a]pyridine]-2-ene-3-carboxylate (SAK3) which enhances Cav3.1 and 3.3 currents in each-channel expressed neuro2A cells. SAK3 can promote acetylcholine (ACh) release in the mouse hippocampus via enhancing T-type calcium channel. In this review, we have introduced the role of T-type calcium channel, especially Cav3.1 channel in the mouse hippocampus based on our previous data using SAK3 and Cav3.1 knockout mice.


Assuntos
Canais de Cálcio Tipo T/efeitos dos fármacos , Canais de Cálcio Tipo T/fisiologia , Imidazóis/farmacologia , Neurônios/fisiologia , Compostos de Espiro/farmacologia , Acetilcolina/metabolismo , Animais , Encéfalo/fisiologia , Canais de Cálcio Tipo T/genética , Canais de Cálcio Tipo T/metabolismo , Células Cultivadas , Sistema Nervoso Central/metabolismo , Fenômenos Eletrofisiológicos , Epilepsia/etiologia , Expressão Gênica/efeitos dos fármacos , Hipocampo/metabolismo , Homeostase , Camundongos , Plasticidade Neuronal , Dor/etiologia , Ratos , Sono/fisiologia
13.
J Pharmacol Sci ; 144(3): 102-118, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32921391

RESUMO

Chronic microglial activation is associated with the pathogenesis of several CNS disorders. Microglia show phenotypic diversity and functional complexity in diseased CNS. Thus, understanding the pathology-specific heterogeneity of microglial behavior is crucial for the future development of microglia-modulating therapy for variety of CNS disorders. This review summarizes up-to-date knowledge on how microglia contribute to CNS homeostasis during development and throughout adulthood. We discuss the heterogeneity of microglial phenotypes in the context of CNS disorders with an emphasis on neurodegenerative diseases, demyelinating diseases, CNS trauma, and epilepsy. We conclude this review with a discussion about the disease-specific heterogeneity of microglial function and how it could be exploited for therapeutic intervention.


Assuntos
Doenças do Sistema Nervoso Central/etiologia , Doenças do Sistema Nervoso Central/terapia , Microglia/patologia , Microglia/fisiologia , Doenças do Sistema Nervoso Central/patologia , Doenças Desmielinizantes/etiologia , Doenças Desmielinizantes/patologia , Doenças Desmielinizantes/terapia , Epilepsia/etiologia , Epilepsia/patologia , Epilepsia/terapia , Homeostase , Humanos , Doenças Neurodegenerativas/etiologia , Doenças Neurodegenerativas/patologia , Doenças Neurodegenerativas/terapia , Fenótipo
15.
Medicine (Baltimore) ; 99(33): e21711, 2020 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-32872049

RESUMO

BACKGROUND: This study will investigate the effects of Spore Powder of Ganoderma Lucidum (SPGL) on CaSR and apoptosis-related proteins (ARP) in hippocampus tissue of epilepsy following dementia. METHODS: This study will retrieve all potential studies from both electronic databases (Cochrane Library, EMBASE, MEDLINE, CINAHL, AMED, and CNKI) and other literature sources to assess the effects of SPGL on CaSR and ARP in hippocampus tissue of epilepsy following dementia. We will search all literature sources from the inception to the present. All eligible case-control studies will be included in this study. Two authors will independently carry out literature selection, data collection, and study quality evaluation. Any divergence will be resolved by another author through discussion. RevMan 5.3 software will be employed for data analysis. RESULTS: This study will summarize existing evidence to assess the effects of SPGL on CaSR and ARP in hippocampus tissue of epilepsy following dementia. CONCLUSIONS: The findings of this study may provide helpful evidence of SPGL on CaSR and ARP in hippocampus tissue of epilepsy following dementia. SYSTEMATIC REVIEW REGISTRATION: INPLASY202070041.


Assuntos
Demência/tratamento farmacológico , Medicamentos de Ervas Chinesas/uso terapêutico , Epilepsia/tratamento farmacológico , Hipocampo/efeitos dos fármacos , Reishi , Animais , Demência/complicações , Medicamentos de Ervas Chinesas/farmacologia , Epilepsia/etiologia , Hipocampo/metabolismo , Receptores de Detecção de Cálcio/metabolismo , Revisões Sistemáticas como Assunto
16.
Neurology ; 95(10): e1392-e1403, 2020 09 08.
Artigo em Inglês | MEDLINE | ID: mdl-32631922

RESUMO

OBJECTIVE: To develop and validate a nomogram to predict epilepsy in patients with radiation-induced brain necrosis (RN). METHODS: The nomogram was based on a retrospective analysis of 302 patients who were diagnosed with symptomatic RN from January 2005 to January 2016 in Sun Yat-sen Memorial Hospital using the Cox proportional hazards model. Discrimination of the nomogram was assessed by the concordance index (C index) and the calibration curve. The results were internally validated using bootstrap resampling and externally validated using 128 patients with RN from 2 additional hospitals. RESULTS: A total of 302 patients with RN with a median follow-up of 3.43 years (interquartile range 2.54-5.45) were included in the training cohort; 65 (21.5%) developed symptomatic epilepsy during follow-up. Seven variables remained significant predictors of epilepsy after multivariable analyses: MRI lesion volume, creatine phosphokinase, the maximum radiation dose to the temporal lobe, RN treatment, history of hypertension and/or diabetes, sex, and total cholesterol level. In the validation cohort, 28 out of 128 (21.9%) patients had epilepsy after RN within a median follow-up of 3.2 years. The nomogram showed comparable discrimination between the training and validation cohort (corrected C index 0.76 [training] vs 0.72 [95% confidence interval 0.62-0.81; validation]). CONCLUSION: Our study developed an easily applied nomogram for the prediction of RN-related epilepsy in a large RN cohort. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that a nomogram predicts post-RN epilepsy.


Assuntos
Irradiação Craniana/efeitos adversos , Epilepsia/diagnóstico , Epilepsia/etiologia , Nomogramas , Lesões por Radiação/complicações , Encéfalo/patologia , Encéfalo/efeitos da radiação , Feminino , Neoplasias de Cabeça e Pescoço/radioterapia , Humanos , Masculino , Pessoa de Meia-Idade , Necrose/etiologia , Necrose/patologia , Lesões por Radiação/diagnóstico , Lesões por Radiação/patologia , Estudos Retrospectivos , Fatores de Risco
17.
Ann Biol Clin (Paris) ; 78(4): 441-445, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32633724

RESUMO

Menkes disease is an X-linked recessive disorder affecting copper metabolism due to an inactivating mutation of ATP7A gene. This result in loss of copper intestinal absorption, tissue deficiency and failure in multiple essential copper-enzyme systems such as the cytochrome c oxidase. Symptoms usually occur during the first months of life with neurological signs such as epilepsy associated to other signs among them typical hair appearance. We report the case of a 3 month-old infant hospitalized due to partial tonic-clonic seizures. Laboratory findings showed increased of lactates in blood and in cerebrospinal fluid. First screenings for infectious, metabolic and genetic causes were negative. After recurrence of multifocal seizures further investigations are made according to the presence of thick and tortuous hair. Low levels of ceruloplasmin and copper in plasma are in agreement with the suspected diagnosis of Menkes disease. Molecular analysis of the ATP7A gene confirmed the diagnosis with a non-sens mutation.


Assuntos
Epilepsia/diagnóstico , Hiperlactatemia/diagnóstico , Síndrome dos Cabelos Torcidos/diagnóstico , Diagnóstico Diferencial , Epilepsia/etiologia , Humanos , Hiperlactatemia/etiologia , Lactente , Masculino , Síndrome dos Cabelos Torcidos/complicações , Índice de Gravidade de Doença
18.
Fa Yi Xue Za Zhi ; 36(3): 365-368, 2020 Jun.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-32705851

RESUMO

Abstract: Post traumatic epilepsy (PTE) is a serious complication of traumatic brain injury and a difficult problem in forensic justice practice. In recent years, many biomarkers have been applied to the diagnosis, treatment and prognosis of injuries and diseases. There have been many studies on the biomarkers of PTE in the field of epilepsy. This paper reviews the progress in research on biomarkers of PTE in recent years in order to provide reference for the forensic identification of PTE.


Assuntos
Biomarcadores , Lesões Encefálicas Traumáticas , Epilepsia Pós-Traumática , Epilepsia , Biomarcadores/análise , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/diagnóstico , Epilepsia/diagnóstico , Epilepsia/etiologia , Epilepsia Pós-Traumática/diagnóstico , Epilepsia Pós-Traumática/etiologia , Humanos
19.
Zhonghua Er Ke Za Zhi ; 58(6): 493-498, 2020 Jun 02.
Artigo em Chinês | MEDLINE | ID: mdl-32521962

RESUMO

Objective: To investigate the clinical and genetic characteristics of developmental and epileptic encephalopathy (DEE) caused by syntaxin-binding protein 1 (STXBP1) gene mutation. Methods: The clinical data, gene variation and treatment outcome of 15 children with STXBP1 encephalopathy admitted to Children's Hospital Affiliated to Capital Institute of Pediatrics from January 2014 to June 2019 were analyzed retrospectively. Results: Among 15 patients, 11 were male and 4 were female, age ranged from 2 months to 69 months. The clinical manifestations of 14 children were epilepsy and developmental delay (DD) and the remaining one showed developmental delay without seizure. The onset age of epilepsy ranged from two days to 19 months and 11 of them experienced the first attack before 1 year of age. The common seizure types were epileptic spasms and tonic seizures. Seven patients were diagnosed with Ohtahara syndrome or West syndrome. Epileptic form discharges were observed in the interictal electroencephalograms (EEG) of 11 patients, including multifocal discharges, suppression-burst and hypsarrhythmia. The brain magnetic resonance imaging of 7 children were abnormal, including myelin dysplasia, less white matter, lack of corpus callosum or hypoplasia. The follow-up time ranged from 2 months to 57 months, after the last follow-up, 3 cases were seizure free, 6 children showed partial response and the other 5 patients had no response on multitherapy. Six of 8 patients showed good responses to levetiracetam (LEV) monotherapy or in combination with other antiepileptic drugs (AEDs). Vigabatrin (VGB) was applied to 5 patients with epileptic spasms and 4 of them showed response. All patients showed different degrees of developmental delay while four of them showed autistic features. STXBP1 gene mutations were identified in all cases and there were 15 types of gene variations, including 8 missense mutations, 1 nonsense mutation, 5 frame shift mutations and 1 complex mutation. Five novel mutations were unreported before, including c.1193A>G, c.172delG, c.1769C>T, c.1038_1039delCC, c.348_351dupTGAA. Conclusions: Development delay and epilepsy are the major and independent clinical phenotypes in children with STXBP1 encephalopathy. The variation of STXBP1 gene is mainly de novo. Levetiracetam and vigabatrin may be more effective in epilepsy control than other AEDs.


Assuntos
Encefalopatias/diagnóstico por imagem , Encefalopatias/genética , Eletroencefalografia , Epilepsia/genética , Proteínas Munc18/genética , Espasmos Infantis/genética , Encefalopatias/diagnóstico , Pré-Escolar , Deficiências do Desenvolvimento/etiologia , Epilepsia/etiologia , Feminino , Humanos , Lactente , Masculino , Mutação , Mutação Puntual , Estudos Retrospectivos , Espasmos Infantis/etiologia
20.
BMC Neurol ; 20(1): 253, 2020 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-32576285

RESUMO

BACKGROUND: Aortic dissection (AoD) is a disease with a high mortality rate. Its clinical manifestations are diverse and covert, which makes diagnosis and treatment challenging. Here, we report a very rare case of aortic dissection leading to bilateral cerebral cortex ischaemia and epilepsy. CASE PRESENTATION: A 54-year-old man was admitted to the hospital with acute onset of right limb weakness accompanied by slurred speech. He had a history of hypertension as well as tobacco and alcohol use. The patient was found to have aphasia and right hemiplegia on physical examination. No bleeding was seen on the skull CT. Acute cerebral infarction was considered after admission, and rt-PA was administered for intravenous thrombolysis. During intravenous thrombolysis, the patient suddenly developed epilepsy, and diazepam was given immediately by intravenous injection to control the symptoms. Emergency skull diffusion-weighted imaging (DWI) was performed, and the results showed a small, patchy, high signal that was scattered throughout the left brain hemisphere, right frontal parietal lobe and centrum semiovale. Head and neck CT angiography (CTA) was performed; dissection was found in the ascending aorta, aortic arch, bilateral common carotid artery, proximal part of the internal carotid artery, and initial segment of the left external carotid artery. The laceration was located in the upper part of the ascending aorta. AoD complicated by acute cerebral infarction and epilepsy was considered, and the patient was immediately transferred to the cardiovascular surgery specialist hospital for surgical treatment. CONCLUSIONS: Some aortic dissections have no typical manifestations of chest pain, and the onset is covert. Atypical clinical manifestations of epilepsy secondary to bilateral cerebral hemisphere infarction may appear. AoD with cerebral infarction is a contraindication for intravenous thrombolysis; surgical treatment is the best way to reduce mortality.


Assuntos
Aneurisma Dissecante/complicações , Aneurisma Aórtico/complicações , Infarto Cerebral/etiologia , Epilepsia/etiologia , Humanos , Masculino , Pessoa de Meia-Idade
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