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Dissertations / Theses on the topic 'Generalized Epilepsy'

Author: Grafiati
Published: 4 June 2021
Last updated: 10 March 2023

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1

Oliveira, Elton Pallone de. "Estudo crítico dos modelos experimentais em epilepsia espontânea do tipo ausência." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/5/5160/tde-24052011-135103/.

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A epilepsia é uma das afecções neurológica mais comum na população mundial. Trata-se de uma condição crônica altamente incapacitante que acomete indivíduos de ambos os sexos e de todas as faixas etárias, com um discreto predomínio em homens e, maior freqüência em crianças abaixo de dois anos e idosos acima de 65 anos. As conseqüências de morbidade e mortalidade desta patologia repercutem negativamente na sociedade e, conseqüentemente na economia global. Estima-se que de 60 a 100 milhões de pessoas ao redor do mundo apresentaram alguma condição epiléptica durante suas vidas. Segundo alguns autores a incidência da epilepsia varia de 11 a 131/100 mil habitantes por ano e a prevalência de 1,5 a 30/1000 habitantes por ano, sendo que os maiores valores encontram-se nos países em desenvolvimento, particularmente na America Latina e na África. As epilepsias generalizadas idiopáticas (EGI) constituem-se cerca de um terço de todas as formas de epilepsias e são 15 a 20% mais freqüentes em relação aos demais tipos de epilepsia. As EGI do tipo ausência, as quais são estritamente relacionadas à faixa etária infantil e adolescente podem muitas vezes (2,8 5,7% dos casos) afetar pacientes com idade superior a 15 anos. A fisiopatologia, assim como, as causas reais da ocorrência e/ou recorrência das crises de ausência na idade adulta não estão completamente esclarecidos e se representam um importante desafio para os epileptologistas. As epilepsias generalizadas idiopáticas (EGIs), (etiologia genética) são classificadas em: a) crises de ausência típicas, b) crises de ausência atípicas, c) crises de ausência com fatores especiais, d) crises mioclônicas, e) crises mioclônicas atônicas, f) crises mioclônicas tônicas, g) crises clônicas, h) crises tônicas e, i) crises atônicas. O tratamento e comumente farmacológico e as crises são controladas na maioria dos casos, no entanto, cerca de um terço dos pacientes são refratários às drogas anticonvulsivantes. Tendo como principal finalidade a elucidação de mecanismos básicos e, auxílio no desenvolvimento de abordagens terapêuticas eficazes para esses pacientes, pesquisadores do mundo inteiro dedicam muitos esforços para o desenvolvimento de modelos experimentais capazes de mimetizar o fenômeno que se pretende reproduzir. Dentre os principais modelos experimentais em EGIs, pode-se citar: (1) o modelo de epilepsia generalizada induzida por penicilina em gatos; (2) modelos de investigação da bicuculina; (3) indução por estimulação elétrica; (4) ratos geneticamente epilépticos de Strasbourg (GAERS); (5) cepa WAG/Rij; (6) modelo do gama-hidroxibutirato (GHB) e (7) os camundongos mutantes. Tais modelos experimentais têm provido meios para que os pesquisadores possam avaliar e quantificar adequadamente as alterações neuronais que ocorrem durante os processos epileptógenos tanto in vitro ou in vivo, possibilitando importantes avanços no desenvolvimento de novas abordagens terapêuticas e, melhora na qualidade de vida de portadores de epilepsia
Epilepsy is a very commom neurological disorders in world population. It is a chronicle condition highly disabling that affects both genera male and female independent of your age with a soft predominance in men and is more frequent in child under 2 years old and adult above 65 years old. The morbidity and mortality consequences of this disorder have many negative repercussions at society and global economy consequently. It is estimated about 60 to 100 millions of people around the world present any epileptic condition during their lives. According some researchers the epilepsy incidence varies about 11 to 131/100 thousand habitants for year and the prevalence between 1.5 to 30/1000 habitants for year, about this statics the higher values are found in developing countries, Latin America and Africa particularly. The Idiopathic Generalized Epilepsy (IGE) are about a third of all others kinds of epilepsies and are 15 to 20% more frequent tha n others types of epilepsies. The absences IGEs are strictly related with childhood and adolescence age group and sometimes can affect patients (2.8 5.7 of cases) with age higher than 15 years old. The physiopathology as the real causes of to occur and to reoccur of absences crises in adult age are not completely enlightened and represent a important challenge to epileptlogists. The IGEs (genetic etiology) are classified in: a) typical absence seizures, b) atypical absence seizures, c) absence seizures with special factors, d) mioclonics seizures, f) tonic mioclonic seizures, g) clone seizures, h) tonic seizures and i) atonic seizures. The treatment commonly is pharmacologic and seizures are controlled in major parts of cases although about a third of patients are refratory to anticonvulsants drugs. Having as principal finality the elucidation of basic mechanisms and help of development of effectiv e therapeutical approaches to these patients, researchers around the world spend many efforts to develop experimental models able to reproduce the phenomena that want to reproduce. Among the principal experimental models of IGEs, it is possible to cite: (1) the general epilepsy model induced by penicillin in cats; (2) the models of investigation of bicuculin; (3) induction by electrical stimulation; (4) Genetic Absence Epilepsy Rats of Strasbourg (GAERS); (5) cepa WAG/Rij; (6) the model of gamma-hydroxybutyric (GHB) and (7) mutant rats. These experimental models have promoted ways to researchers can to evaluate and quantify adequately the neuronal alterations that occur during epileptigenes process both in vitro or in vivo, making possible important advances in development of new therapeutical approaches and improvement in quality of life of epilepsy carriers
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2

Kay, Benjamin P. "Resting-State Functional Connectivity in Treatment-Resistant Idiopathic Generalized Epilepsy." University of Cincinnati / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1380612937.

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3

Lin, Katia [UNIFESP]. "Estudo anátomo-funcional por ressonância magnética em pacientes com epilepsia mioclônica juvenil." Universidade Federal de São Paulo (UNIFESP), 2009. http://repositorio.unifesp.br/handle/11600/9493.

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Objetivo: As bases neuroanatômicas e as anormalidades bioquímicas subjacentes à epilepsia mioclônica juvenil (EMJ) não são totalmente conhecidas. Apesar de o tálamo atuar na sincronização de diversas regiões do córtex cerebral durante uma crise, há evidências sugerindo que nem todos os neurônios corticais são afetados de forma homogênea. Compreender a participação destas redes neuronais específicas na EMJ pode esclarecer alguns de seus mecanismos fisiopatológicos. O objetivo deste estudo foi investigar as diferenças metabólicas e estruturais cerebrais entre pacientes com EMJ e controles normais. Métodos: Todos os pacientes possuíam o diagnóstico de EMJ baseado em história e semiologia das crises, eletrencefalografia (EEG), vídeo-EEG e neuroimagem por ressonância magnética (RM) convencional normal, conforme os critérios da Comissão de Classificação e Terminologia da International League Against Epilepsy, 1989. Sessenta pacientes com EMJ foram submetidos a protocolos de espectroscopia de prótons e morfometria baseada em voxels (VBM) por RM de 1,5 T. O grupo controle foi constituído por 30 voluntários saudáveis, pareados por sexo, idade e dominância manual. Este estudo foi realizado após aprovação do comitê de ética da instituição e obtenção de consentimento informado, por escrito, de todos os participantes. Resultados: Demonstrou-se redução da razão de N-acetilaspartato/Creatina (NAA/Cr) dos pacientes com EMJ em relação ao grupo controle nos córtices frontal, pré-frontal e no tálamo. Observou-se diferença na razão do complexo glutamato-glutamina (GLX)/Cr nos córtices frontal, pré-frontal, ínsula, corpo estriado e cíngulo posterior entre os dois grupos. Análise por regressão múltipla nos pacientes com EMJ demonstrou maior correlação funcional entre o tálamo e o córtex pré-frontal. Também foi encontrada correlação negativa entre NAA/Cr e a duração da epilepsia. Análise estrutural quantitativa por VBM demonstrou redução do volume da substância cinzenta no tálamo, ínsula e cerebelo bilateralmente e aumento do volume do córtex frontal nos pacientes. Conclusões: O comprometimento de algumas regiões cerebrais nestes pacientes sugere envolvimento de um circuito tálamo-cortical específico na fisiopatologia desta síndrome, considerada “generalizada”. Reduções em NAA podem representar perda ou lesão de neurônios ou axônios bem como disfunções metabólicas, enquanto o GLX é considerado um neurotransmissor excitatório, envolvido na patogênese das crises epilépticas. As anormalidades estruturais encontradas reforçam a existência de uma rede ictogênica anátomo-funcional específica na EMJ e o conceito de ‘system epilepsies’.
Purpose: The neuroanatomical basis and the neurochemical abnormalities that underlie juvenile myoclonic epilepsy (JME) are not fully understood. While the thalamus plays a central role in synchronization of widespread regions of the cerebral cortex during a seizure, emerging evidence suggests that all cortical neurons may not be homogeneously involved. The purpose of this study was to investigate the cerebral metabolic and structural differences between JME patients and normal controls. Methods: All patients had a JME diagnosis based on seizure history and semiology, EEG recording, normal magnetic resonance neuroimaging (MRI) and video-EEG according to the Commission on Classification and Terminology of the International League Against Epilepsy, 1989. Sixty JME patients (JME-P) were submitted to 1.5 T MRI multi-voxel proton spectroscopy and voxel-based morphometry (VBM). The control group consisted of 30 age and sex-matched healthy volunteers. The Institutional Ethics Committee approved the study, and informed consent was obtained from all participants. Results: Group analysis demonstrated lower N-acetyl-aspartate/Creatine (NAA/Cr) ratio among patients compared to controls on prefrontal, frontal cortices and thalamus. Patients had a statistically significant difference in glutamate-glutamine complex (GLX)/Cr on prefrontal and frontal cortices, insula, striatum and posterior cingulate gyrus. When evaluating the relationship among the various components of this epileptic network among JME-P, the strongest correlation occurred between thalamus and prefrontal cortex and a significant negative correlation between NAA/Cr and duration of epilepsy was found. Also, VBM demonstrated significantly reduced gray matter volume (GMV) in thalami, insula cortices and cerebellar hemispheres bilaterally; while significantly increased GMV was observed in right superior frontal, orbitofrontal and medial frontal gyri among JME-P when compared to controls. Conclusions: The identification of a specific network of neurochemical dysfunction and slight structural abnormalities in patients with JME, with diverse involvement of particular structures within the thalamocortical circuitry, suggests that cortical hyperexcitability in JME is not necessarily diffuse, supporting the knowledge that the focal/generalized distinction of epileptogenesis should be reconsidered and reinforcing the concept of ‘system epilepsies’.
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4

Porter, Joanne. "An investigation into the implicaitons of emotional intelligence for psychosocial problems in temporal lobe epilepsy and idiopathic generalized epilepsy." Thesis, University of Sheffield, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.500146.

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5

Betting, Luiz Eduardo Gomes Garcia. "Epilepsia generalizada idiopatica : aspectos etnicos, eletroencefalograficos e de neuroimagem l." [s.n.], 2006. http://repositorio.unicamp.br/jspui/handle/REPOSIP/309309.

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Orientadores: Fernando Cendes, Li Li Min
Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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Resumo: Epilepsias generalizadas idiopáticas (EGI) constituem de 20-40% das epilepsias e de forma oposta às epilepsias parciais, anormalidades estruturais não são esperadas. De acordo com a idade de início e o tipo principal de crise, as EGI são divididas principalmente em epilepsia ausência infantil e juvenil (EA), epilepsia mioclônica juvenil (EMJ) e epilepsia com crises tônico-clônicas generalizadas (CTCG). Os limites entre estas subsíndromes são imprecisos e a classificação muitas vezes é difícil. Devido às características semelhantes, alguns autores consideram a EGI como uma única patologia com múltiplos fenótipos (continuum biológico). O eletroencefalograma (EEG) auxilia no diagnóstico das EGI especialmente quando evidencia descargas do tipo espícula onda-lenta generalizadas com atividade de base normal. Entretanto, o EEG pode ser normal e até mesmo mostrar focalidades dificultando o diagnóstico. A ressonância magnética (RM) não é realizada de forma rotineira em pacientes com EGI. Contudo, novas técnicas de aquisição e processamento de imagens vêm detectando anormalidades sutis nestes indivíduos. O objetivo deste estudo foi investigar a fisiopatologia das EGI através da análise de características clínicas, eletroencefalográficas e de neuroimagem. Inicialmente, as características dos EEGs de 180 pacientes com diagnóstico clínico de EGI foram avaliadas. 493 exames foram analisados. Em 33% dos pacientes o EEG inicial foi característico e em 22% o exame evidenciou focalidades. Após a identificação de focalidades utilizamos a neuroimagem convencional (análise visual) na avaliação de 134 pacientes com EGI. Observamos anormalidades na RM de 27 (20%) pacientes. A maioria das anormalidades não apresentou relação direta com as crises. Utilizamos a técnica da morfometria baseada em voxel (MBV) para investigar lesões discretas eventualmente não identificadas na neuroimagem de rotina. Esta técnica permite a comparação entre grupos de imagens aumentando a chance de detecção de anormalidades. Observamos aumento na concentração de substância cinzenta (CSC) localizada no córtex frontal de pacientes com EMJ (n=44) e EA (n=24). Observamos também uma maior CSC na região anterior do tálamo nos pacientes com crises de ausência (n=47). Avaliando as focalidades clínicas e de EEG de 22 pacientes com EGI utilizando a MBV, observamos áreas de aumento da CSC em 8 dos 9 (89%) pacientes com EMJ, 5 dos 6 (83%) pacientes com EA e 5 dos 7 (71%) pacientes com CTCG ao despertar. A volumetria do tálamo foi realizada para investigar o aumento de CSC sugerido pela MBV. A comparação entre 147 pacientes e um grupo controle evidenciou um maior volume da região anterior do tálamo nos pacientes com crises de ausência. Nossos resultados revelam que a fisiopatologia das EGI envolve o tálamo e o córtex cerebral. As diversas alterações na neuroimagem quantitativa apresentadas por cada subsíndrome sugerem um diferente mecanismo para as EGI. Este achado fortalece o conceito de diferentes doenças com fenótipos semelhantes. Mais do que isso, nossos achados indicam, uma alteração estrutural no cérebro destes indivíduos. Os diversos fenótipos estão relacionados a diferentes mecanismos fisiopatológicos. As focalidades observadas no EEG e na RM refletem a patogênese das crises em pacientes com EGI
Abstract: Idiopathic generalized epilepsies (IGE) represent 20-40% of all epilepsies and opposed to partial epilepsies, structural abnormalities are not expected. According to the age of onset and the main seizure type, IGE are divided mainly in childhood and juvenile absence epilepsy (AE), juvenile myoclonic epilepsy (JME) and generalized tonic-clonic seizures (GTCS). The limits between these subsyndromes are unclear and sometimes classification is difficult. Because of the similar characteristics, some authors consider IGE as a single pathology with multiple phenotypes (biological continuum). Electroencephalogram (EEG) helps the IGE diagnosis specially when it shows the generalized spike and wave discharges with normal background. However, the EEG may be normal or even disclose focalities difficulting the diagnosis. Magnetic resonance imaging (MRI) is not routinely performed in patients with IGE. In spite of this, new techniques of acquisition and processing of the images are detecting subtle abnormalities in these individuals. The objective of this study was to investigate the pathophysiology of the IGE using the clinical, EEG and neuroimaging features. Initially, the characteristics of the EEGs of 180 patients with clinical diagnosis of IGE were evaluated. 493 exams were analyzed. In 33% of the patients the initial EEG was characteristic and in 22% the exam revealed focalities. After the identification of the focalities, we used conventional neuroimaging (visual analysis) on the evaluation of 134 patients with IGE. We observed abnormalities in the MRI of 27 (20%) patients. Most of the abnormalities were not directly related to the seizures. We used the voxel base morphometry (VBM) technique to evaluate the images. This technique allows comparisons between groups of images increasing the chances of detecting abnormalities. We observed increased gray matter concentration (GMC) localized in the frontal cortex of patients with JME (n=44) and AE (n=24). We also observed increased GMC in the anterior thalamic region of patients with absence seizures (n=47). Evaluating the clinical and EEG focalities of 22 patients with IGE using VBM, we observed areas of increased GMC in 8 of 9 (89%) patients with JME, 5 of 6 (83%) patients with AE and 5 of 7 (71%) patients with GTCS on awakening. The volumetry of the thalamus was performed to investigate the increased GMC suggested by the VBM. The comparison between 147 patients with a control group showed increased volume of the anterior thalamic region in patients with absence seizures. Our results revealed that the pathophysiology of the IGE involves the thalamus and the cerebral cortex. The several abnormalities on the neuroimage presented by each subsyndrome suggest a different mechanism for the IGE. This finding strengths the concept of multiple diseases with similar phenotypes. Furthermore, our findings indicate a structural abnormality in the brain of these individuals. The several phenotypes are related with different pathophysiological mechanisms. The focalities present on the EEG and in the MRI reflect the pathogenesis of the seizures in patients with IGE
Doutorado
Neurociencias
Doutor em Fisiopatologia Medica
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6

Eroglu, Ezgi. "Association Between Gamma Aminobutyric Acid (gaba) Type B Receptors Gene Polymorphisms And Idiopathic Generalized Epilepsy." Master's thesis, METU, 2012. http://etd.lib.metu.edu.tr/upload/12614056/index.pdf.

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Epilepsy is neurological disorder affecting 0.5 to 1% of the population all around the world. It is characterized by the seizures, which are the sudden alterations of behavior due to a temporary change in electrical functioning of the brain. Idiopathic generalized epilepsy (IGE) accounts for one-fifth of all the other epilepsy types, and several gene mutations were identified as the causes of IGE. In general, voltage-gated and ligand-gated ion channel mutations are linked with seizure formation. Gamma amino butyric acid (GABA), the most important inhibitory neurotransmitter of the central nervous system, and its receptors are commonly mentioned in the pathophysiology of epilepsies. Decrease in the inhibitory effect of GABA in neurons causes epileptic discharges resulting in seizure development. The study population consisted of a total of 176 idiopathic generalized epilepsy (IGE) patients, 83 subjects having psychogenic non-epileptic seizures (PNES), 86 non-epileptic control subjects from Turkey. Total blood samples were obtained from Gü
lhane Military Medical Academy Hospital Neurology Department, Ankara. There was no statistically difference between the patient and control groups in terms of age. Genomic DNA isolations were performed and genotyping of G1465A and C59T polymorphisms of GABAB1 gene
rs1999501, rs967932, rs3780428 and rs944688 polymorphisms of GABAB2 gene were determined by PCR-RFLP technique. In this study, GABAB1 G1465A polymorphic allele was not observed in Turkish population. For GABAB1 C59T polymorphism, polymorphic allele frequencies were found as 0.097 in IGE patients
0.072 in PNES subjects and 0.105 in non-epileptic control subjects. No significant difference is identified for C59T polymorphism in all three groups. Four SNPs of GABAB2 were studied
rs967932 was found to increase the risk of IGE 3.6-fold (P=0.031) compared to PNES subjects, polymorphic allele frequencies were found as 0.060 in IGE patients
0.018 in PNES subjects and 0.035 in non-epileptic control subjects. For rs1999501 polymorphism, polymorphic allele frequencies were found as 0.077 in IGE patients
0.048 in PNES subjects and 0.093 in non-epileptic control subjects. For rs3780428 polymorphism, polymorphic allele frequencies were found as 0.267 in IGE patients
0.235 in PNES subjects and 0.256 in non-epileptic control subjects. For rs944688 polymorphism, polymorphic allele frequencies were found as 0.196 in IGE patients
0.260 in PNES subjects and 0.227 in non-epileptic control subjects. No significant difference was identified for rs1999501, rs3780428 and rs944688 polymorphisms among IGE patients, PNES subjects and non-epileptic control groups. IGE risk was 6.54-fold higher for subjects having combined GA genotype for rs967932 and GG genotype for rs3780428 when compared with PNES subjects (P=0.042). The combination of CC genotype for rs1999501, GG genotype for rs967932 and TT genotype for rs944688 had around 9-fold protective effect against IGE when both compared with PNES subjects (P=0.038) and non-epileptic control subjects (P=0.041).
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Eriksson, Ann-Sofie. "A pharmacokinetic and pharmacodynamic study of an antiepileptic drug (lamotrigine) in young patients with drug-resistant generalized epilepsy /." Stockholm, 2000. http://diss.kib.ki.se/2000/91-628-4205-6/.

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8

Tian, Nan. "SLEEP-RELATED GENERALIZED TONIC SEIZURE AND HIGH FREQUENCY OSCILLATION (HFOs) IN A MESIAL TEMPORAL LOBE EPILEPSY MOUSE MODEL." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1277440218.

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Coco, S. "SCREENING DEI GENI ¿PACEMAKER¿ IN PAZIENTI CON EPILESSIA IDIOPATICA GENERALIZZATA: IDENTIFICAZIONE DI UNA MUTAZIONE RECESSIVA NEL CANALE HHCN2." Doctoral thesis, Università degli Studi di Milano, 2012. http://hdl.handle.net/2434/169153.

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It is well established that several forms of inheritable idiopathic epilepsy sindrome are ion channelopathies, that is pathologies associated with dysfunctional ion channels, even if the functional link between channel dysfunction and clinical phenotype is often unresolved. Hyperpolarization-activated, Cyclic-Nucleotide gated (HCN) channels are a class of voltage- and cAMP-dependent channels. They mediate the hyperpolarization-activated Ih current, which control synaptic integration and intrinsic excitability in various brain areas. Ih is pathologically altered after experimentally-induced seizures and has been proposed to have a role in different forms of epileptogenesis. Hcn1 and Hcn2 genes variants have been identified in patients with febrile seizure or GEFS+. While existing data therefore clearly show a link between HCN channel dysfunction and epileptogenesis, no specific mutation-induced HCN channel modification has so far been correlated functionally with increased neuronal excitability. To investigate this we used a candidate gene approach and screened a panel of idiopathic generalized epilepsy patients and related families for mutations in the Hcn1 and Hcn2 genes. We found a form of sporadic IGE associated with a recessive point mutation in the gene coding for the HCN2 channel. The protein mutation E515K is located in the C-linker region (exon 5 of the Hcn2 gene). Functional analysis revealed that homomeric mutant, but not heteromeric wild-type/E515K channels, have a negative shift in the activation kinetics. Furthermore, the time-constant curve for homomeric E515K channels was also shifted to the negative direction. Moreover, omomeric mutant, but not heteromeric wild type/mutant channels, showed a lowering of the threshold of action potential firing and a strongly increased cell excitability and firing frequency when compared to wild-type channels. In conclusion, our results show that the homozygous E515K mutation in human HCN2 channels is a loss-of-function mutation causing a large negative shift of the activation curve and slowing of activation, and a consequent strong reduction of Ih availability near resting voltages. These changes cause a substantial increase of neuronal excitability, a condition predisposing to epileptogenesis, and are associated with a recessive type of inheritance compatible with the idiopathic generalized epilepsy of the proband in the family pedigree.
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Braga, Aline Marques da Silva [UNESP]. "Análise quantitativa das descargas epileptiformes generalizadas e da neuroimagem de pacientes com epilepsia generalizada idiopática." Universidade Estadual Paulista (UNESP), 2016. http://hdl.handle.net/11449/138325.

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Fundamento: Evidências experimentais de modelos animais de crises de ausência sugerem focalidades no início das descargas generalizadas. Estudos clínicos indicam que pacientes com o diagnóstico de epilepsia generalizada idiopática (EGI) exibem anormalidades focais que envolvem o circuito tálamo-cortical no eletroencefalograma (EEG) e na neuroimagem. Objetivos: Investigar a presença de características focais nas descargas generalizadas interictais usando análise quantitativa do EEG (EEGq) e avaliar o córtex do giro do cíngulo usando múltiplas abordagens quantitativas de neuroimagem. Métodos: 75 EEGs de 64 pacientes foram analisados. A primeira espícula generalizada inequívoca foi marcada para cada descarga. Três métodos de análise de fonte geradora da atividade observada foram aplicados: transformação do dipolo em imagem (dipole source imaging-DSI), abordagem LORETA aplicada iterativamente (CLARA), e análise de dipolo equivalente de componentes independentes com análise de agrupamentos. Após processamento do EEG, 32 pacientes (18 mulheres, 32 ± 11) fizeram ressonância magnética. Foram utilizados três métodos para comparar o giro do cíngulo de pacientes e controles: morfometria baseada em voxel (VBM), análise cortical e análise de formato. Resultados: 753 descargas generalizadas foram analisadas. Usando as três técnicas, o lobo frontal foi a principal fonte das descargas (70%), seguido pelos lobos parietal e occipital (14%) e, por fim, os núcleos da base (12%). As principais fontes anatômicas das descargas generalizadas foram o córtex da porção anterior do giro do cíngulo (36%) e giro frontal medial (23%). A VBM mostrou atrofia de substância cinzenta na porção anterior do giro do cíngulo (972 mm3) e no istmo (168 mm3). Análises individuais do córtex do giro do cíngulo mostraram resultados semelhantes. Comparações de superfície mostraram anormalidades principalmente na porção posterior do giro do cíngulo (718.12 mm2). A análise de formato demonstrou uma predominância de anormalidades nas porções anterior e posterior do giro do cíngulo. Discussão: A análise de fonte não mostrou uma fonte única comum a todas as descargas generalizadas mas indicou predominância do giro do cíngulo e lobo frontal. Além disso, o estudo sugere a existência de anormalidades estruturais sutis no giro do cíngulo, principalmente nas porções anterior e posterior.
Background: Experimental evidence from animal models of absence seizures suggests a focal source for the initiation of generalized spike-and-wave (GSW) discharges. Clinical studies indicate that patients diagnosed with idiopathic generalized epilepsy (IGE) exhibit focal electroencephalographic and subtle structural abnormalities, which involve the thalamo-cortical circuitry. Aims: The objectives of the current investigation were to investigate whether interictal generalized discharges exhibit focal characteristics using qEEG analysis and to perform a comprehensive analysis of the cingulate cortex using multiple quantitative structural neuroimaging techniques. Methods: 75 EEG recordings from 64 patients were analyzed. The first unequivocally confirmed generalized spike was marked for each discharge. Three methods of source imaging analysis were applied: dipole source imaging (DSI), classical LORETA analysis recursively applied (CLARA), and equivalent dipole of independent components with cluster analysis. After EEG analysis, 32 patients (18 women, 30± 10 years) and 36 controls (18 women, 32 ±11 years) were imaged by 3 Tesla magnetic resonance (MRI). We used three models to compare cingulate gyrus of patients and the control group: voxel-based morphometry (VBM), cortical analyses and shape analyses. Results: A total of 753 GSW discharges were spatiotemporally analyzed. Source analysis using all three techniques revealed that the frontal lobe was the principal source of GSW discharges (70%), followed by the parietal and occipital lobes (14%), and the basal ganglia (12%). The main anatomical sources of the generalized discharges were the anterior cingulate cortex (36%) and the medial frontal gyrus (23%). VBM analyses of cingulate gyrus showed areas of gray matter atrophy, mainly in the anterior cingulate gyrus (972 mm3) and the isthmus (168 mm3). Individual analyses of the cingulate cortex were similar between patients with IGE and controls. Surface- based comparisons revealed abnormalities located mainly in the posterior cingulate cortex (718.12 mm2). Shape analyses demonstrated a predominance of abnormalities in the anterior and posterior portions of cingulate gyrus abnormalities. Discussion: Source analysis did not reveal a common focal source of generalized discharges. However, there was a predominance of GSW discharges originating from the cingulate gyrus and the frontal lobe. Furthermore, this study suggests that patients with IGE have structural abnormalities in the cingulate gyrus mainly localized at the anterior and posterior portions. This finding is subtle and variable among patients.
FAPEMAT: 11/16452-2
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11

Braga, Aline Marques da Silva. "Análise quantitativa das descargas epileptiformes generalizadas e da neuroimagem de pacientes com epilepsia generalizada idiopática." Botucatu, 2016. http://hdl.handle.net/11449/138325.

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Orientador: Luiz Eduardo Gomes Garcia Betting
Resumo: Fundamento: Evidências experimentais de modelos animais de crises de ausência sugerem focalidades no início das descargas generalizadas. Estudos clínicos indicam que pacientes com o diagnóstico de epilepsia generalizada idiopática (EGI) exibem anormalidades focais que envolvem o circuito tálamo-cortical no eletroencefalograma (EEG) e na neuroimagem. Objetivos: Investigar a presença de características focais nas descargas generalizadas interictais usando análise quantitativa do EEG (EEGq) e avaliar o córtex do giro do cíngulo usando múltiplas abordagens quantitativas de neuroimagem. Métodos: 75 EEGs de 64 pacientes foram analisados. A primeira espícula generalizada inequívoca foi marcada para cada descarga. Três métodos de análise de fonte geradora da atividade observada foram aplicados: transformação do dipolo em imagem (dipole source imaging-DSI), abordagem LORETA aplicada iterativamente (CLARA), e análise de dipolo equivalente de componentes independentes com análise de agrupamentos. Após processamento do EEG, 32 pacientes (18 mulheres, 32 ± 11) fizeram ressonância magnética. Foram utilizados três métodos para comparar o giro do cíngulo de pacientes e controles: morfometria baseada em voxel (VBM), análise cortical e análise de formato. Resultados: 753 descargas generalizadas foram analisadas. Usando as três técnicas, o lobo frontal foi a principal fonte das descargas (70%), seguido pelos lobos parietal e occipital (14%) e, por fim, os núcleos da base (12%... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: Background: Experimental evidence from animal models of absence seizures suggests a focal source for the initiation of generalized spike-and-wave (GSW) discharges. Clinical studies indicate that patients diagnosed with idiopathic generalized epilepsy (IGE) exhibit focal electroencephalographic and subtle structural abnormalities, which involve the thalamo-cortical circuitry. Aims: The objectives of the current investigation were to investigate whether interictal generalized discharges exhibit focal characteristics using qEEG analysis and to perform a comprehensive analysis of the cingulate cortex using multiple quantitative structural neuroimaging techniques. Methods: 75 EEG recordings from 64 patients were analyzed. The first unequivocally confirmed generalized spike was marked for each discharge. Three methods of source imaging analysis were applied: dipole source imaging (DSI), classical LORETA analysis recursively applied (CLARA), and equivalent dipole of independent components with cluster analysis. After EEG analysis, 32 patients (18 women, 30± 10 years) and 36 controls (18 women, 32 ±11 years) were imaged by 3 Tesla magnetic resonance (MRI). We used three models to compare cingulate gyrus of patients and the control group: voxel-based morphometry (VBM), cortical analyses and shape analyses. Results: A total of 753 GSW discharges were spatiotemporally analyzed. Source analysis using all three techniques revealed that the frontal lobe was the principal ... (Complete abstract click electronic access below)
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12

Sander, Thomas. "Molekulargenetische Kartierung von genetischen Determinanten bei idiopathisch generalisierten Epilepsien." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2001. http://dx.doi.org/10.18452/13735.

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Ziel unserer molekulargenetischen Studien ist es, Gene der genetisch komplexen idiopathisch generalisierten Epilepsien (IGE) im Genom des Menschen zu lokalisieren und die verantwortlichen Genstörungen durch die Mutationsanalyse von positionell und funktionell plausiblen Kandidatengenen zu identifizieren. Unsere Kopplungsanalysen konnten einen IGE-Locus (Locus-Symbol: EJM1) in der chromosomalen Region 6p21.3 bestätigen und die Kandidatengenregion auf ein chromosomales Segment von 10 centiMorgan (cM) eingrenzen. Ein positionell und funktionell plausibles Kandidatengen ist das Gen einer Untereinheit des heterodimeren GABAB Rezeptors (Gen-Symbol: GABA-BR1). Die systematische Mutationsanalyse des GABA-BR1 Gens und eine Assoziationsstudie mit drei Sequenzpolymorphismen in den Exonen 1a1, 7 und 11 ergaben keinen Anhalt für eine Beteiligung des GABA-BR1 Gens bei der Epileptogenese der IGE. Kopplungshinweise in den chromosomalen Regionen 20q13, 8q24 und 15q14 konnten wir in unserem Familienkollektiv nicht bestätigen. Die Mutationsanalyse der Kandidatengene CHRNA4 und KCNQ2 in der Kandidatengenregion 20q13 und von zwei Kalziumkanal-Genen (CACNA1A, CACNB4) ergaben keinen Hinweis auf disponierende Sequenzvarianten bei IGE-Patienten. Unsere systematische Genomanalyse bei 130 Familien mit mehreren IGE-Angehörigen zielte auf die positionelle Eingrenzung von Genstörungen, die an der Disposition eines breiten IGE-Spektrums beteiligt sind. Bei 360 der 694 Familienangehörigen lag ein IGE-Phänotyp vor. Bei 617 Familienangehörigen wurden für die systematische Genomanalyse insgesamt 416 Mikrosatelliten-Polymorphismen mit einem durchschnittlichen Abstand von 10 cM genotypisiert. Die parameter-freien Kopplungsanalysen ergaben einen signifikanten Kopplungsbefund in der chromosomalen Region 3q26 (P = 1,7 x 10-5 bei D3S3725) sowie zwei Kopplungshinweise in den chromosomalen Regionen 2q36.1 (P = 5,4 x 10-4 bei D2S1371) und 14q23 (P = 5,6 x 10-4 bei D14S63). Positionell und funktionell plausible Kandidatengene sind die Gene des Kalium-Kanals KCNA1B und des Chlorid-Kanals CLCN2 in der Region 3q26, das Gen des Chlorid-Bikarbonat Austauschers SLC4A3 in der Region 2q36, und das Gen des Natrium-Kalzium Austauschers SLC8A3 in der Region 14q23. Der molekulargenetische Nachweis von Genmutationen für die IGE wird konkrete Einblicke in die molekularen Mechanismen der Epileptogenese eröffnen und die Voraussetzungen dafür schaffen, rational begründete Therapieansätze zu entwickeln.
The aim of our molecular genetic studies is to map genes of the genetically complex idiopathic generalized epilepsies on the human genome and to identify the causative gene variants by mutation analyses of positional and functional plausible candidate genes. Our linkage studies confirmed an IGE-locus (locus symbol: EJM1) in the chromosomal region 6p21.3 and to refine the candidate region to a chromosomal segment of 10 centiMorgan (cM). A positional and functional candidate gene is the gene encoding a subunit of the heterodimeric GABAB receptor (gene symbol: GABA-BR1). The systematic mutation screening of the GABA-BR1 gene and an association analysis with three sequence polymorphisms in exons 1a1, 7 and 11 provided no evidence that the GABA-BR1 gene confers susceptibility to the epileptogenesis of IGE. We failed to replicate previous linkage findings in the chromosomal regions 20q13, 8q24 and 15q14 in our family sample. Mutation analysis of the candidate genes CHRNA4 and KCNQ2 and two genes encoding calcium channel subunits (CACNA1A, CACNB4) did not detect common susceptibility alleles in IGE patients. Our systematic genome scan was designed to identify susceptibility loci that predispose to a broad spectrum of common IGE syndromes. Our study included 130 families with two or more siblings affected by an IGE. In total, 360 out of 694 family members were affected by an IGE-trait. 617 family members were genotyped for 416 microsatellite polymorphisms with an average distance of 10 cM. Non-parametric linkage analysis provided significant evidence for a novel IGE susceptibility locus on chromosome 3q26 (ZNPL = 4.19 at D3S3725; P = 0.000017) and suggestive evidence for two IGE loci on chromosome 14q23 (ZNPL = 3.28 at D14S63; P = 0.000566), and chromosome 2q36 (ZNPL = 2.98 at D2S1371; P = 0.000535). Positional and functional candidate genes include the potassium channel gene KCNA1B and the chloride channel gene CLCN2 in the region 3q26, the chloride-bicarbonate anion exchanger gene SLC4A3 in the region 2q36, and the sodium-calcium exchanger gene SLC8A3 in the region 14q23. The molecular genetic detection of susceptibility genes for IGE will provide clues to elucidate the complex molecular pathways of epileptogenesis, and, finally, will help to develop rational treatment strategies.
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Gomes, Sidcley Pereira. "Localização de Fontes de Descargas Generalizadas em Pacientes com Epilepsia Mioclônica Juvenil." Universidade Federal do Maranhão, 2010. http://tedebc.ufma.br:8080/jspui/handle/tede/441.

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One important information for the classification of epilepsy is the cortical localization of the discharges source. Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy (IGE) that typically presents generalized tonic-clonic, myoclonic, or absence seizures, or a combination of these. In typical cases of JME, the seizures are usually bilateral and symmetric, and EEG shows generalized interictal epileptiform discharges and a generalized seizure pattern that also is bilaterally synchronous. Despite of the generalized pattern of this type of epilepsy, there are some electroencephalographic and clinical features that suggest focal origin for the discharges. In this work, EEG recordings of six patients were analyzed in order to find evidences for this cortical origin in JME. The analysis of the signals was based on independent component analysis (ICA) for separating epileptiform discharges from artifacts and other brain sources; then the discharge components were used to spatially localize its source. In the six patients the dipole sources were localized mainly in the frontal region, what suggests an important participation of the frontal lobe for this kind of epilepsy.
Uma informação importante para a classificação da epilepsia é a localização cortical das suas fontes de descargas. A epilepsia mioclônica juvenil (EMJ) é uma epilepsia generalizada idiopática (EIG), que tipicamente apresenta crises tônico-clônicas, mioclônicas , crises de ausênica ou uma combinação destas. Em casos típicos de EMJ, as crises são geralmente bilaterais e simétricas, e o EEG mostra descargas epileptiformes interictais generalizadas em um padrão geralmente sincrônico. A despeito dos padrões generalizados deste tipo de epilepsia, há algumas características eletroencefalográficas e clínicas que sugerem uma origem focal para estas descargas. Neste trabalho, os registros de EEG de seis pacientes foram analisados, afim de encontrar evidências para uma origem cortical em EMJ. O processamento dos sinais foi baseado na técnica de análise de componentes independentes (ICA), com a finalidade de separar descargas epileptiformes de artefatos e de outras fontes cerebrais. Após esse processo, as componentes de descargas foram usadas para localizar espacialmente suas fontes. Em seis pacientes, as fontes dipolo foram localizadas principalmente nas regiões frontais, o que sugere uma importante participação do lobo frontal para esse tipo de epilepsia.
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14

Kibuuka, Moses. "Propagation of generalised discharges in idiopathic generalised epilepsy." Thesis, King's College London (University of London), 2012. https://kclpure.kcl.ac.uk/portal/en/theses/propagation-of-generalised-discharges-in-idiopathic-generalised-epilepsy(660ff720-7829-41cc-bdb8-f1a91333231f).html.

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Introduction: Patients with idiopathic generalised epilepsy (IGE) show generalised discharges, which are assumed to occur synchronously over the entire cortex. We hypothesis that (1) Generalised discharges are propagated and this can be shown by latency differences between EEG spikes recorded over homologous sites at discharge onset, and (2) Discharge synchronicity may predict treatment response. Methods: Eighty-five patients EEGs, containing generalised discharges were analysed to identify latency differences between spikes recorded at homologous regions between hemispheres at discharge onset. The discharges were either synchronous or non-synchronous generalised spike-and-waves (GSW), polyspike-and-waves (PSW) or GSW+PSW. Results: At onset, discharges were synchronous (with no latency differences between hemispheres) in 29 patients (34 %), were led by the left hemisphere in 17 patients (20%) and by the right hemisphere in 16 patients (19 %). In 23 patients (27%), discharges were a mixture of synchronous and non-synchronous discharges at onset. In non-synchronous discharges, the range of latency differences at discharge onset was 6-45 ms (mean latency 19.2ms). Interictal focal abnormalities were seen in 59 patients (69 %) in addition to the generalised discharges. There was an association between presence of synchronous discharges and one seizure type, and between presence of non-synchronous discharges and multiple seizure types (P =0.01). In addition, there was an association between presence of synchronous generalised discharges and good response to prescribed antiepileptic drugs (AED), and between non-synchronous discharges and poor response to AEDs (p=0.0001). The proportion of patients who responded favourably to medical treatment was significantly higher among those with synchronous discharges (>80 %) compared to those where one hemisphere led (<25 %). Conclusion: In IGE, generalised discharges are not always synchronous. EEG latency analysis could be used to identify non-synchronous discharges, which may be predictors for multiple seizure types and poor response to AEDs.
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15

Prevett, Martin Charles. "Positron emission tomography in idiopathic generalised epilepsy." Thesis, University of Southampton, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.296348.

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16

Chioza, Barry Andrew. "Identification of genes involved in idiopathic generalised epilepsy." Thesis, King's College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397656.

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17

Rowley, Helen Louise. "Generalised seizures : effects on gaba and glutamate release." Thesis, University of Nottingham, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.481475.

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18

Perani, Suejen. "Multimodal neuroimaging in drug naïve genetic generalised epilepsy patients." Thesis, King's College London (University of London), 2016. https://kclpure.kcl.ac.uk/portal/en/theses/multimodal-neuroimaging-in-drug-naive-genetic-generalised-epilepsy-patients(220dd4d7-a6f3-455f-9b8b-2f3d97deca5d).html.

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Neuroimaging has advanced the knowledge of genetic generalised epilepsy via the improvement of methods and technology. The current understanding is that patients with GGE are characterised by abnormalities in the cortical-thalamic network, functionally and also structurally; and in the default mode network, mainly functionally. However, most studies have been performed on treated patients often with poor seizure control. This leaves uncertainty regarding the status of the brain at the onset of the disease and mechanisms that lead to positive and negative treatment outcome. Also, the systematic measurements of epileptic activity during resting fMRI has left questions about the interaction between cognitive status and the brain networks that have been identified as associated with generalised spike waves (GSW). In this thesis I focused on three rarely and/or uniquely explored issues in the field of neuroimaging in GGE to reach a more comprehensive understanding of GGE. First, I undertook a study of brain structure and function free from any effects of anti-epileptic medication. In drug naïve patients, I measured grey matter volume and shape and fMRI BOLD changes related to GSW onset and prior to GSW. I showed that previous findings can be interpreted and confirmed without the potential influence of AEDs. Secondly, I applied a prospective approach via longitudinally following patients from pre-treatment to post-treatment stages to explore treatment response and to identify markers of treatment outcome. I compared grey matter volume and shape between drug naïve pre-treatment patients with good and bad outcomes. I identified a trend of decreased grey matter volume in patients with bad outcome suggesting the existence of differences at baseline between patients with different treatment response. I compared cerebral blood flow (CBF) longitudinally and found a trend of decreased CBF post-treatment. This suggests that BOLD changes post-treatment may be related to CBF differences. Thirdly, I explored the relationship between brain networks associated with GSW and the brain state via measuring BOLD changes associated with GSW recorded during periods of rest and while watching a cartoon. Evidence of different BOLD maps during rest and cartoon is reported suggesting the need to consider initial brain state in defining the GSW related BOLD response. Methodological constraints, clinical applications and future perspectives are discussed.
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19

Corrigan, Fiona MacDonald. "Sleep and forgetting in children with genetic generalised epilepsy." Thesis, University of Glasgow, 2015. http://theses.gla.ac.uk/6695/.

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Objective: Given the well-established association between epilepsy and sleep disturbance and the evidence suggesting the importance of sleep in memory consolidation, there is reason to investigate the relationship between sleep and rate of forgetting in children with epilepsy. This study aimed to investigate the relationship between sleep and forgetting in children with Genetic Generalised Epilepsy (GGE). Methods: Participants were 19 children with GGE (9-15 years old). Actigraphy, sleep diaries and standardised questionnaires were used to measure sleep over a week long period. Rate of forgetting was measured using neuropsychological tests at the beginning and end of the study week. Spearman’s correlation analysis was used to determine if poorer sleep was associated with poorer initial learning and rate of forgetting in verbal memory recall and recognition. Results: No association was found between sleep efficiency or duration and rate of forgetting. Measures of sleep disturbance were mixed, with sleep onset latency found to be associated with rate of forgetting on the Word Lists test. However, increased wake after sleep onset was associated with decreased rate of forgetting. Conclusions: Whilst there was limited evidence of a relationship between some actigraphic sleep parameters and rate of forgetting for verbal information, the results were mixed and likely biased by the small sample size. There is need for further research with a larger sample to establish the nature of the relationship between sleep and rate of forgetting in children with GGE.
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Hunt-Jones, Charlotte Amy. "Mutation analysis of GABAergic neuroinhibitory genes in childhood genetic generalised epilepsies." Thesis, Swansea University, 2015. https://cronfa.swan.ac.uk/Record/cronfa43036.

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Epilepsy affects over 450,000 people in the UK and there are over 50 epilepsy phenotypes; genetic generalised epilepsy (GGE) account for up to 30% of seizure types. It is established that GGE and other neurological disorders are, in some cases, caused by channelopathies within post-synaptic inhibitory neurotransmitter systems such as GAB A (epilepsy) and Glycine (hyperekplexia). GAB A is the primary inhibitory neurotransmitter in the brain and is synthesised from glutamate by GAD65 and 67, and is released from the pre-synaptic nerve terminal into the synaptic cleft, where it binds to post-synaptic GABA receptors and initiate neuroinhibition. This inhibition is removed by post-synaptic GABA transporters (GAT1 and GAT3) that uptake GABA back into the cell for re-packaging in presynaptic vesicles or breakdown by transamination. Abnormalities in this system have been linked to diseases including anxiety, psychosis, Parkinsons’s Disease and epilepsy. GABAergic animal models have demonstrated a tendency to seizure, including GABA transporter and enzyme models in relation to epilepsy. Given the above, the aim of this study was to identify GGE causing variants in four GABAergic genes. GGE patient samples (n=101) were recruited from 3 global centres and screened for variations in GAT1, GAT3, GAD65, GAD67 using high-throughput LightScanner analysis and bi-directional Sanger sequencing. Control population studies («=480) were carried out and analysis of online databases to determine the frequency of variants. Twenty novel or very rare variants were identified in 48 patient samples representing a detection rate of 6.8%, where a clustering of phenotypes included a predisposition towards absence seizures. The biological consequences of these variants were predicted using three online predictive programmes, multiple phylogenetic alignments and 3D structural modelling. Mutation expression constructs were prepared and expression levels were validated by immunocytochemistry. Functional characterisation of these variants will hopefully improve genetic diagnosis in GGE and determine causality of GABAergic absence seizures.
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Joplin, Samantha Kate. "Accelerated Long-term Forgetting in Children with Epilepsy: An Investigation of the Temporal Trajectory and Contribution of Executive Skills." Thesis, The University of Sydney, 2022. https://hdl.handle.net/2123/29891.

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In individuals with epilepsy, the most common clinical complaint relates to memory failure. Memory impairments have particularly detrimental impacts on the developing child, resulting in failure to acquire skills and a slower rate of academic and social progression. Thus, early detection of memory problems in children is imperative for early intervention. Nevertheless, gauging the memory difficulties in clinical practice is inherently problematic: memory performance on standardised neuropsychological tests is often discrepant with subjective reports from the child with epilepsy and their caregiver. Standardised assessments of long-term memory are confounded by measurement shortcomings, including ecological validity, developmental appropriateness, and temporal sensitivity. The most problematic of these is perhaps the brevity of recall delays used, which are typically 2 to 30 minutes. The process of memory consolidation exceeds this, rendering these tests insensitive to the subsequent memory deterioration experienced by these children. In recent decades, a memory phenomenon uncaptured by standardised episodic memory tests has been documented in patients with epilepsy: accelerated long-term forgetting (ALF). ALF is characterised by the rapid deterioration of memory that occurs during the process of memory consolidation, irrespective of intact initial learning and recall. Research has established that children with epilepsy also show differential patterns of memory deterioration over extended delays (i.e., days or weeks) relative to typically developing children. The aims of this thesis were to (i) investigate the temporal pattern of ALF in children with genetic generalised epilepsy (GGE) and temporal lobe epilepsy (TLE), (ii) determine if ALF is present in both verbal and visual materials, (iii) examine the contribution of executive skills for the presence of ALF, and (iv) review the current state of evidence for memory rehabilitation in this clinical population.
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Grayson-Collins, Jasmin. "Accelerated long-term forgetting and academic achievement in children with idiopathic generalised epilepsy." Thesis, The University of Sydney, 2014. http://hdl.handle.net/2123/12071.

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Recently, children with IGE were found to have a more rapid rate of forgetting of newly-learned information over long delays (days or weeks) relative to shorter delays (up to 30 min): accelerated long-term forgetting (ALF). We examined whether ALF persists over time in children with IGE, and which factors predict the outcome. A longitudinal prospective study of 18 children with IGE and 29 healthy controls (HC) measured intelligence, working memory and verbal and visual learning (involving recall after short, 20 to 30-min delays), in addition to verbal recall at long (7 day) delays. At both time points children with IGE recalled fewer words than HC at 7-days, but not 2-min and 30-min delays suggesting that ALF does not resolve over time. Younger age of seizure onset, more severe epilepsy at baseline and taking antiepileptic drugs (AED) at follow-up were related with fewer words recalled at 7 days. We also set out to test academic skills in children with IGE, determine whether ALF or other cognitive factors contributes to academic difficulties in children with IGE. Standardised tests of reading, spelling and numerical operations, phonological processing and memory were used. Children with IGE obtained significantly lower scores than HC children on tests of word reading and numerical operations, but not on a spelling test. In children with IGE, scores on the tests of word reading and numerical operations were not related to recall of information after long delays, but were related to standardised memory test scores. Earlier age of seizure onset was significantly correlated with lower scores on a word reading test. Our findings confirm that ALF exists and persists in children with IGE. Children with IGE are also at risk of poorer academic performance than healthy children in word reading and arithmetic, but ALF is not related to these academic difficulties.
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23

Koepp, Matthias Johannes. "Central benzodiazepine receptors in hippocampal sclerosis and idiopathic generalised epilepsies and opioid receptors in reading epilepsy." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.401824.

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24

MATON, BRUNO. "Role du tronc cerebral dans les crises convulsives generalisees." Université Louis Pasteur (Strasbourg) (1971-2008), 1992. http://www.theses.fr/1992STR1M213.

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Araujo, Patricia Aline Oliveira Ribeiro de Aguiar. "Analise de ligação e associação em familias com epilepsia mioclonica juvenil e outras formas de epilepsia generalizada idiopatica." [s.n.], 2004. http://repositorio.unicamp.br/jspui/handle/REPOSIP/309721.

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Orientadores: Iscia Lopes Cendes, Fernando Cendes
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: As epilepsias generalizadas idiopáticas (EGI) perfazem aproximadamente 50% de todas as epilepsias e possuem em sua etiologia fatores genéticos envolvidos. A epilepsia mioclônica juvenil (EMJ), uma das formas mais comuns de EGI, foi a primeira síndrome epiléptica a ter um locus mapeado, em 1988 e, desde então, vários estudos foram realizados mas a localização de um ou mais loci para a EMJ e outras formas de EGI permanece ainda uma questão aberta e muito atual. o objetivo deste projeto foi mapear loci envolvidos na predisposição para a EMJ e outras formas de EGI por estudos de ligação e associação em pacientes brasileiros. Os estudos de ligação foram realizados utilizando-se seis famílias não relacionadas, com pelo menos dois pacientes com EGI, sendo o probando com EMJ. Para os estudos de associação foram utilizados 44 pacientes com EMJ, não relacionados e, como grupo controle, 63 indivíduos sem história pessoal ou familiarde epilepsia. Para ambos os estudos foram genotipados oito marcadores microssatélites nas regiões cromossômicas 6p21 e 6p12 e quatro marcadores que flanqueassem o locus 5q34. Para o estudo de ligação foram realizadas as análises de dois pontos e de múltiplos pontos com o aplicativo LINKAGE. Para a análise de associação foram utilizados os testes Qui-quadrado e exato de Fisher, quando indicado, e o cálculo de odds ratio com intervalo de confiança de 95%. Também foi realizada uma pesquisa direta de mutação do exon 9 do gene GABRA1, localizado em 5q34, pela análise de SSCP em 71 pacientes e 82 controles e subseqüentemente foi realizado seqüenciamento das variantes encontradas. Os nossos resultados do estudo de ligação não evidenciaram a presença de um gene principal nas regiões 6p21, 6p12 ou 5q34. No entanto, a análise de associação demonstrou a possível presença de genes de suscetibilidade (menor efeito) ou genes modificadores, nos pacientes com EMJ estudados, nas três regiões. A análise de mutação do exon 9 do gene GARRA] não revelou qualquer variante potencialmente patológica. Em conclusão, os nossos dados vêm contribuir para o melhor entendimento da EMJ e das EGI em geral, reforçando o conceito de doenças complexas, nas quais existe possivelmente uma herança poligênica e a presença de heterogeneidade genética
Abstract: The idiopathic generalized epilepsies (IGE), for which a genetic cause is widely accepted, account for approximately 50% of all epilepsies. Juvenile myoclonic epilepsy (JME), one of the most common forms of IGE, was the first epileptic syndrome to be mapped to a chromosome (ch) region, in 1988, and since then, although several studies were carried out, the localization of one or more loci for the JME and other forms of IGE remains still an open and very current question. The objective of this project was to map loci involved in the predisposition for JME and other forms of lGE, using linkage and association studies, in Brazilian patients. Linkage studies were carried out using six non-related families, with at least two patients with IGE, with the proband having JME. For the association studies 44 on-related individuals were genotyped. In addition, 63 normal controls without epilepsy, were studied. For both studies we genotyped eight microsatellite markers in ch 6p21 and ch 6p12 and four markers in ch 5q34. For linkage studies we used the LINKAGE software to calculate two-point and multipoint lod scores. For the association analyses, we used qui-square and Fisher's exact tests, when it was indicated, and odds ratio with 95% confidence intervalo. We also performed a mutation screening on exon 9 of the GABRA1 gene, on ch 5q34, for 71 patients and 82 controls using SSCP analysis and, subsequently,sequencing of the variants found. Our linkage results showed no evidence of a major locus on cromossomal regions 6p21, 6p12 or 5q34. However, association studies found some evidence for susceptibility genes (minor effect) or modifier genes in all three regions. Mutation screening of exon 9 of the GABRA1 gene did not identify any potential pathological variant. In conclusion,our data contribute for the general view of JME and other forms of IGE as complex trait, in which polygenic inheritance and genetic heterogeneity are probably
Mestrado
Neurociencias
Mestre em Fisiopatologia Médica
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26

DESAIZE, JAFFREDO JOELLE. "Les crises convulsives generalisees de l'adulte : etude de la methode d'accueil et d'investigation aux urgences medicales de rennes et comparaison avec la strategie preconisee lors de la conference de consensus en medecine d'urgence (geneve 13.04.91)." Rennes 1, 1993. http://www.theses.fr/1993REN1M130.

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27

Malvestio, Irene. "Detection of directional interactions between neurons from spike trains." Doctoral thesis, Universitat Pompeu Fabra, 2019. http://hdl.handle.net/10803/666226.

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An important problem in neuroscience is the assessment of the connectivity between neurons from their spike trains. One recent approach developed for the detection of directional couplings between dynamics based on recorded point processes is the nonlinear interdependence measure L. In this thesis we first use the Hindmarsh-Rose model system to test L in the presence of noise and for different spiking regimes of the dynamics. We then compare the performance of L against the linear cross-correlogram and two spike train distances. Finally, we apply all measures to neuronal spiking data from an intracranial whole-night recording of a patient with epilepsy. When applied to simulated data, L proves to be versatile, robust and more sensitive than the linear measures. Instead, in the real data the linear measures find more connections than L, in particular for neurons in the same brain region and during slow wave sleep.
Un problema important en la neurociència és determinar la connexió entre neurones utilitzant dades dels seus trens d’impulsos. Un mètode recent que afronta la detecció de connexions direccionals entre dinàmiques utilitzant processos puntuals és la mesura d’interdependència no lineal L. En aquesta tesi, utilitzem el model de Hindmarsh-Rose per testejar L en presència de soroll i per diferents règims dinàmics. Després comparem el desempenyorament de L en comparació al correlograma lineal i a dues mesures de trens d’impulsos. Finalment, apliquem totes aquestes mesures a dades d’impulsos de neurones obtingudes de senyals intracranials electroencefalogràfiques gravades durant una nit a un pacient amb epilèpsia. Quan utilitzem dades simulades, L demostra que és versàtil, robusta i més sensible que les mesures lineals. En canvi, utilitzant dades reals, les mesures lineals troben més connexions que L, especialment entre neurones en la mateixa àrea del cervell i durant la fase de son d’ones lentes.
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28

Mory, Susana Barretto. "Caracteristicas clinicas, eletrograficas e de imagem no diagnostico diferencial entre epilepsias parcial e generalizada idiopatica." [s.n.], 2002. http://repositorio.unicamp.br/jspui/handle/REPOSIP/309298.

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Orientador : Fernando Cendes
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: As epilepsias generalizadas idiopáticas (EGI), freqüentemente não são diagnosticadas corretamente em adultos, trazendo sérias conseqüências para os pacientes. O objetivo deste trabalho foi avaliar os fatores mais freqüentemente associados a dificuldades no diagnóstico diferencial entre epilepsias parciais e generalizadas em adultos. Avaliamos 41 pacientes com diagnóstico prévio de epilepsia parcial (EP) que apresentavam elementos de anamnese e eletrencefalograma indicando um possível diagnóstico diferencial. Foi possível a mudança do diagnóstico de EP para EGI em 25 pacientes (61%): 22 com Epilepsia Mioclônico Juvenil (EMJ)(88%); um com ausência juvenil, um com síndrome de ausências com mioclonias periorais e um com ausência com mioclonias palpebrais. Mioclonias, uma das características da EMJ e outras formas de EGI, geralmente não eram espontaneamente relatadas pelos pacientes. Mioclonias unilaterais foram confundidos com crises parciais motoras. Ausências breves e pouco freqüentes e anormalidades focais no EEG contribuíram para o não reconhecimento de EGI. Todos 25 pacientes apresentavam crises sem controle adequado antes da revisão diagnóstica. Após o diagnóstico correto e mudança para monoterapia com acido valpróico ou valproato de sódio, 19 (76%) ficaram livre de crises e seis (24%) dos 25 pacientes apresentaram melhora significativa. Nos demais 16 pacientes, a descrição das crises não definiu um diagnóstico sindrômico adequado. Os EEGs interictais também não ajudaram a definir o diagnóstico diferencial. Após a investigação de neuroimagem utilizando técnicas com cortes finos e reconstrução multiplanar, e o registro de crises em 7 pacientes, o diagnóstico de EP foi confirmado. Apenas cinco destes 16 pacientes (31,3%) apresentam controle satisfatório de crises com doses adequadas de drogas antiepilépticas (DAE). Em conclusão, anamnese detalhada e questionamento direcionado para determinar a presença de mioclonias e crises tipo ausência e a sua interpretação no contexto clínico são fundamentais e suficientes para o diagnóstico correto das EGI. Nos casos em que a dúvida permanece, fica mais provável o diagnóstico de epilepia parcial, sendo necessária investigação detalhada com vídeo-EEG e ressonância magnética com cortes finos para a definição do diagnóstico sindrômico adequado
Abstract: Idiopathic generalized epilepsy (IGE) is often not recognized, they resulting in serious consequences for the sufferers. We examined factors contributing to the errors in the diagnosis of IGE in 41 adults attending our epilepsy clinic who had previous diagnosis of partial epilepsy but semiology or EEG findings suggesting a possible differential diagnosis. After careful re-evaluation, the diagnosis of IGE was established in 25(61%) patients: 22 (88%) being diagnosed as juvenile myoclonic epilepsy (JME), one juvenile absence, one perioral myoclonia with absences, one eyelid myoclonia with typical absences. Myoclonic jerks, the hallmark of the JME and other IGE, were not usually reported by patients and misdiagnosed as focal motor seizures. Brief and infrequent absence seizures and focal EEG abnormalities were other factors contributing to not being able to recognize JME. All 25 patients did not achieve seizure control before re-evaluation of diagnosis. After appropriate diagnosis of IGE and change of AED to valproate or valproic acid, 19 (76%) became seizure free and six (24%) had a significant improvement on seizure control. Association with lamotrigine provided further improvement in three of these patients. In 16 patients, semiologic and EEG findings were not sufficient for a definitive syndromic diagnosis. The diagnosis of partial epilepsy was confirmed by imaging studies using thin slices and multiplanar reconstruction and ictal EEG recordings in 7 patients. Only five patients (31,3%) have had satisfactory seizure control on medication. We conclude that in certain patients only a complete investigation with video-EEG and MRI can allow us to reach the correct diagnosis. An appropriate questioning to identify myoclonic and absence seizures and a proper interpretation in the context of whole clinical constellation are essential for a correct seizure classification and diagnosis of IGE in adults
Mestrado
Neurologia
Mestre em Ciências Médicas
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29

Martins, Heloise Helena [UNIFESP]. "Validação psicométrica da versão português-Brasil do Liverpool Adverse Events Profile (LAEP) em pacientes com epilepsia parcial sintomática e epilepsia generalizada idiopática." Universidade Federal de São Paulo (UNIFESP), 2011. http://repositorio.unifesp.br/handle/11600/10166.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Fundo de Auxílio aos Docentes e Alunos (FADA)
Objetivo: Realizar a tradução, adaptação cultural e validação para o Português do Liverpool Adverse Events Profile (LAEP) e avaliar sua confiabilidade e validade em pacientes com epilepsia parcial sintomática (EPS) e epilepsia generalizada idiopática (EGI) (ILAE, 1989). O LAEP é uma escala que mede a percepção dos pacientes em relação aos efeitos adversos (EAs) das drogas antiepilépticas (DAEs). Casuística e metodologia: Pacientes maiores de 18 anos, alfabetizados e em uso de DAEs em doses estáveis por no mínimo um mês foram recrutados para responder o LAEP (19 questões). Esta versão foi administrada a um grupo de pacientes consecutivos no setor de Epilepsia do Hospital São Paulo. A confiabilidade teste-reteste foi determinada através do coeficiente intraclasse (ICC) após 2 semanas e a consistência interna pelo coeficiente alfa de Cronbach (CAC). A validade construtiva foi acessada por variáveis sócio-demográficas e clínicas e pelos inventários Quality of Life in Epilepsy Inventory (QOLIE-31) e Hospital and Anxiety Depression (HADS) ambos validadas para o Português previamente. O Coeficiente de Correlação de Pearson foi utilizado no estudo das associações entre o LAEP e os outros instrumentos. Análises de variância, testes t-Student e de Fisher foram as medidas estatísticas usadas no estudo das variáveis clínicas e socio-demográficas. A significância estatística foi considerada para valores de p<0,005. Resultados: 100 pacientes foram incluídos, 61 (61,0%) tinham EPS e 39 (41,0%) EGI, com média de idade de 34,5 anos (DP=12,12) e 56 (56,0%) eram do sexo feminino. Politerapia (com 2 ou mais DAEs) era usada por 69 (69,0%) pacientes. Carbamazepina (CBZ) foi a DAE mais comumente utilizada em toda a amostra (43,0%). A média do LAEP foi de 37,6 (DP=13,35) e os EAs mais freqüentemente reportados em toda a amostra foram Sonolência (35,0%), Problemas de memória (35,0%) e Dificuldade de concentração (25,0%). A consistência interna foi alta como demonstrado pelo coeficiente alfa de Cronbach 0,903 (0,872-0,928). A confiabilidade foi satisfatória de modo geral, com ICC variando entre 0,370 (Dificuldade de manter o equilíbrio do corpo) a 0,737 (Tontura). Os itens com ICC menor (Dificuldade de manter o equilíbrio do corpo, Problemas na boca e gengiva, Ganho de peso) foram aqueles melhor confirmados por exame físico médico. A correlação entre o LAEP e o QOLIE-31 foi alta (r=-0,804, p>0,001) e a ocorrência de EAs foi associada a piores resultados no QOLIE-31 e HADS. Pontuações elevadas no LAEP foram associadas ao número de DAEs (p=0,005), gênero feminino (p<0,001), idade maior (34,5-70 anos) (p<0,001) e presença de crises não controladas (p=0,045). A pontuação total no LAEP nos dois grupos de epilepsia foi semelhante. Variáveis clínicas que influenciaram o LAEP no grupo EGI foram freqüência de crises (p=0,050), presença de crises tonico-clônico generalizadas (p=0,031) e politerapia com três ou mais DAEs (p=0,003). No grupo EPS o único fator significativo foi a politerapia (p=0,003). Pacientes que faziam uso de CBZ em altas doses (>800 mg/dia) apresentaram pontuações mais baixas nos itens: Nervosismo e/ou agressividade (p=0,006), Perda de cabelo (p=0,045), Dificuldade de concentração (p=0,003), Problemas na boca e na gengiva (p=0,001), Depressão (p=0,042) e pontuação total (p=0,025). Pacientes que tomavam ácido valproico em doses altas (>1.000 mg/dia) demonstraram pontuações mais elevadas nos itens: Dificuldade de manter o equilíbrio do corpo (p=0,005) e Vontade de agredir (p=0,037). Conclusão: A versão Português-Brasil do LAEP foi confirmada como um instrumento confiável e válido para avaliar EAs em pacientes com epilepsia com ressalvas importantes sobre os sintomas físicos. Este estudo demonstrou que os itens do LAEP foram associados aos EAs das DAEs de forma específica e sem padrão nítido dose-dependente. Embora a pontuação geral do LAEP não tenha se mostrado útil em diferenciar EAs em epilepsias distintas como EPS e EGI, esta escala subjetiva pode ser utilizada como triagem continuada nos ensaios clínicos com DAEs que afetam os itens por ela estudados.
Purpose: To report the translation, cultural adaptation and validation of the Liverpool Adverse Events Profile (LAEP) into a Portuguese–Brazilian version and evaluate its reliability and validity in patients with symptomatic partial (SPE) and idiopathic generalized epilepsies (IGE) (ILAE, 1989). LAEP is a scale to measure patient’s perception about adverse effects (AEs) of antiepileptic drugs (AEDs). Methods: Patients (literate, >18yrs.) who were taking AEDs at a stable dose for at least one month were recruited for LAEP (19 questions). This version was administered to a group of consecutive outpatients in the Epilepsy Section of Hospital São Paulo. Test–retest reliability was determined through intra-class coefficient (ICC) after 2 weeks and internal consistency by Cronbach’s alpha coefficient (CAC). Construct validity was accessed by sociodemographic/clinical evaluation, “The Hospital Anxiety and Depression Scale” (HADS) and “Quality of Life in Epilepsy-31 Inventory” (QOLIE-31), both validated previously to Portuguese. Pearson’s correlation coefficient was used to analyse the association between LAEP and other instruments. Analyses of variance, t-Student´s for independent samples, Fisher´s exact, Mann-Whitney’s tests were used for sociodemographic/clinical variables. P values less than 0.050 were considered statistically significant. Results: 100 patients were included: 61 (61.0%) with SPE and 39 (39.0%) with IGE (mean age 34.5; SD=12.12yrs), 56 females. Polytherapy (2 or more AEDs) were used by 69 (69,0%) patients. Carbamazepine (CBZ) was the most commonly used AED (43%). LAEP mean score was 37.6 (SD=13.35), and the most common AEs were Sleepiness (35.0%), Memory problems (35.0%) and Difficulty in concentrating (25.0%). The internal consistency was high (CAC=0.903; 0.872- 0.928). The reliability was satisfactory in general and ICC ranged from 0.370 (Unsteadiness) to 0.737 (Dizziness). The items with lower ICC (Unsteadiness, Problems with mouth and gums, Weight gain) were those which are better confirmed during medical physical examination. Correlation between LAEP and QOLIE-31 was high (r=-0.804, p>0.001) and occurrence of AEs were associated with worse QOLIE-31 and HADS results. Higher LAEP scores were associated to number of AEDs (p=0.005), female gender (p<0.001), older age (34.5-70yrs.) (p<0,001) and the presence of uncontrolled seizures (p=0.045). LAEP total scores in the two epilepsy groups were similar. Variables that influenced global LAEP in IGE were seizure frequency (p=0.050), generalized tonic-clonic seizures in the last month (p=0.031) and polytherapy with 3 or more AEDs (p=0.003); in SPE, only polytherapy (p=0.003). Higher CBZ doses (>800mg) showed lower scores in: Nervousness and or/agitation (p=0.006), Hair Loss (p=0.045), Difficulty in concentrating (p=0.003), Problems with mouth and gums (p=0.001), Depression (p=0.042), and overall score (p=0.025). Regarding higher valproic acid doses (>1000mg), Unsteadiness (p=0.005) and Feelings of aggression (p=0.037) were more frequently reported. Conclusion: The Portuguese-Brazilian version of LAEP was confirmed as a reliable and valid instrument for assessing AEs in patients with epilepsy with important restraints in physical symptoms. This study demonstrated that LAEP items were associated to specific AEs of AEDs without a clear dose dependent pattern. Although LAEP overall score was not helpful for differentiating AEs in distinct epilepsies such EPS and EGI this subjective questionnaire may be useful for continued screening of patients in clinical trials with AEDs that affect the items studied by this scale.
TEDE
BV UNIFESP: Teses e dissertações
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30

VALVERDE, JUAN-MIGUEL, and ERIC LEFEBVRE. "La crise convulsive generalisee de l'adulte : prise en charge extrahospitaliere puis hospitaliere dans le service accueil-urgence-smur du centre hospitalier de roubaix ; a propos d'une enquete retrospective en 1993." Lille 2, 1994. http://www.theses.fr/1994LIL2M191.

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31

DUARTE, Regina Célia Beltrão. "Investigação do potencial cortical provocado visual para padrão reverso em pacientes diagnosticados com epilepsia parcial e generalizada." Universidade Federal do Pará, 2011. http://repositorio.ufpa.br/jspui/handle/2011/2881.

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CNPq - Conselho Nacional de Desenvolvimento Científico e Tecnológico
FINEP - Financiadora de Estudos e Projetos
FAPESPA - Fundação Amazônia de Amparo a Estudos e Pesquisas
Este trabalho avaliou o potencial cortical provocado visual de crianças com história de epilepsia com o objetivo de identificar marcadores eletrofisiológicos que indicassem alterações corticais em epilepsia. Foram estudados 34 sujeitos com história de epilepsia (18 sujeitos com epilepsia parcial e 16 com epilepsia generalizada). O grupo controle foi composto por 19 sujeitos sem história de crises epilépticas com faixa etária semelhante aos pacientes. Os componentes do potencial cortical provocado visual transiente para apresentação por padrão reverso de tabuleiros de xadrez foram avaliados quanto à amplitude, tempo implícito e razões de amplitude entre os componentes. Foi observado que os pacientes com epilepsia generalizada apresentaram componente N75 com amplitude maior que os demais grupos, enquanto as razões de amplitude N75/P100 e P100/N135foram menores em pacientes com epilepsia parcial que em outros grupos. Houve fraca correlação linear entre os parâmetros do potencial cortical provocado visual e a idade de início das crises epilépticas ou tempo de utilização das medicações antiepilépticas. Conclui-se que o componente N75 e as razões de amplitude N75/P100 e P100/N135 podem ser bons indicadores eletrofisiológicos para alterações funcionais corticais em epilepsia.
The present work evaluated the visual evoked cortical potential of children with clinical history of epilepsy in order to identify electrophysiological marker indicating cortical changes in epilepsy. Thirty-four subjects with history of epilepsy along the lifetime (18 subjects diagnosed with partial epilepsy and 16 subjects diagnosed with generalized epilepsy). The control group was composed by 19 subjects age-matched with no history of epilepsy. Visual evoked cortical potential components for pattern-reversal presentation of chessboards were evaluated in amplitude, implicit time, and amplitude ratio of components. It was observed that generalized epilepsy patients had larger N75 than other two groups, whilst N75/P100 and P100/N135 ration were smaller in partial epilepsy patients than other groups. There was weak correlation between the electrophysiological parameters and the age of seizures onset or time of antiepileptic drugs intake. In conclusion, N75 amplitude and amplitude ratio can be good electrophysiological markers to cortical changes in epilepsy.
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32

HAMOY, Moisés. "Caracterização comportamental e eletroencefalográfica das convulsões induzidas pelo cunaniol e acetato de cunaniol extraídos das folhas de Clibadium sylvestre, um modelo de convulsão generalizada experimental em ratos (Wistar)." Universidade Federal do Pará, 2011. http://repositorio.ufpa.br/jspui/handle/2011/2874.

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A Clibadium sylvestre é largamente distribuída na região amazônica, onde é conhecida como cunambi ou cunhambi, e sua ingestão causa embriaguez, ou mesmo morte dos peixes, demonstrando propriedade ictiotóxica. Os compostos existentes nas folhas da Clibadium sylvestre são poderosos estimulantes do sistema nervoso central, suas folhas contêm substâncias com potencial convulsivante. As alterações eletroencefalográficas, crise convulsiva e os efeitos de drogas no controle do comportamento convulsivo foram estudados bem como a via metabólica dos componentes acetato de cunaniol e cunaniol. O trabalho foi realizado em ratos wistar machos adultos, tratados com DE50 de 2,92 mg/kg ou DL50 de 3,64 mg/kg de cunaniol a via de administração utilizada foi a intraperitoneal. Após a administração do cunaniol, a evolução das crises convulsivas foram observadas, permitindo classificá-las de acordo com a intensidade de apresentação e relacionar com a concentração plasmática do cunaniol. Os parâmetros eletroencefalográficos, da atuação das drogas no controle das convulsões e a característica cíclica foram determinadas e avaliadas. A análise de plasma obtido por cromatografia líquida após a aplicação das substâncias convulsivantes indicam que o acetato de cunaniol sofre desacetilação dando origem ao cunaniol, droga responsável pelo quadro convulsivo. Dados eletrocorticográficos demonstraram cinco padrões de traçados diferentes durante registro de 4 horas permanecendo com alterações de traçado por 12 horas após aplicação. As drogas utilizadas para prevenir o desencadeamento das convulsões, as mais efetivas foram o Diazepam, o Fenobarbital e a Quetamina. O comportamento convulsivo foi classificado em cinco estágios. Para a ocorrência dos estágios 4 e 5 não houve diferenças estatísticas quanto à concentração plasmática de cunaniol.
The Clibadium sylvestre is largely distribued in the Amazon region, where is know as cunambi or cunhambi, and its ingestion causes inebriation or even fish´s death, demonstrating ichthyotoxic property. The compounds existing in the leaf of Clibadium sylvestre are powerful of central nervous system stimulants, its leafs contain potential convulsivant substances. The electroencephalographic changes, seizure and drug effects on seizure behavior control were studied as well as metabolic pathway of compounds cunaniol acetate and cunaniol. The work was performed with adult male Wistar rats, treated with DE50 of 2,92 mg/kg or DL50 of 3,64 mg/kg of cunaniol, administration route used was intraperitoneal. After cunaniol administration, the seizure evolution was observed, it allows to classify them according to the presentation intensity relate to cunaniol plasma concentration. The eletroencefalografic parameters of the drugs action on the seizure control and the clinic characteristic were determined and evaluated. The plasma analysis obtained by liquid chromatography after the application of convulsivant substances indicates that the cunaniol acetate undergoes deacetylation giving rise to cunaniol, drug responsible for convulsive state. Data electrocorticography has been shown five different patterns of tracks during recording with 4 hours remaining changes outlined by 12 hours after application. Among the drugs used to prevent the onset of seizures, the most effective were diazepam, phenobarbital and ketamine. The convulsive behavior was classified into five stages. For the occurrence of stages 4 and 5 there was no statistical differences regarding plasma cunaniol.
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33

Fiddyment, Grant Michael. "Point process modeling as a framework to dissociate intrinsic and extrinsic components in neural systems." Thesis, 2016. https://hdl.handle.net/2144/19065.

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Understanding the factors shaping neuronal spiking is a central problem in neuroscience. Neurons may have complicated sensitivity and, often, are embedded in dynamic networks whose ongoing activity may influence their likelihood of spiking. One approach to characterizing neuronal spiking is the point process generalized linear model (GLM), which decomposes spike probability into explicit factors. This model represents a higher level of abstraction than biophysical models, such as Hodgkin-Huxley, but benefits from principled approaches for estimation and validation. Here we address how to infer factors affecting neuronal spiking in different types of neural systems. We first extend the point process GLM, most commonly used to analyze single neurons, to model population-level voltage discharges recorded during human seizures. Both GLMs and descriptive measures reveal rhythmic bursting and directional wave propagation. However, we show that GLM estimates account for covariance between these features in a way that pairwise measures do not. Failure to account for this covariance leads to confounded results. We interpret the GLM results to speculate the mechanisms of seizure and suggest new therapies. The second chapter highlights flexibility of the GLM. We use this single framework to analyze enhancement, a statistical phenomenon, in three distinct systems. Here we define the enhancement score, a simple measure of shared information between spike factors in a GLM. We demonstrate how to estimate the score, including confidence intervals, using simulated data. In real data, we find that enhancement occurs prominently during human seizure, while redundancy tends to occur in mouse auditory networks. We discuss implications for physiology, particularly during seizure. In the third part of this thesis, we apply point process modeling to spike trains recorded from single units in vitro under external stimulation. We re-parameterize models in a low-dimensional and physically interpretable way; namely, we represent their effects in principal component space. We show that this approach successfully separates the neurons observed in vitro into different classes consistent with their gene expression profiles. Taken together, this work contributes a statistical framework for analyzing neuronal spike trains and demonstrates how it can be applied to create new insights into clinical and experimental data sets.
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34

Lachance-Touchette, Pamela. "Criblage génétique et caractérisation fonctionnelle des mutations dans les différentes sous-unités du récepteur GABAA associées à l'épilepsie génétique généralisée." Thèse, 2014. http://hdl.handle.net/1866/11834.

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Les épilepsies génétiques généralisées (ÉGGs) sont un groupe de syndromes épileptiques hétérogènes qui se manifestent habituellement durant les périodes de l’enfance et de l’adolescence. Les ÉGGs représentent 30% de toutes les épilepsies. Il n’existe présentement aucun remède à l’épilepsie génétique généralisée. Au sein de ce groupe d’épilepsies, les sujets sont le plus souvent dépourvus de lésions cérébrales, ce qui signifie que les facteurs génétiques jouent un rôle important dans l’étiologie de la maladie. Au cours des dernières années, plusieurs gènes impliqués dans des formes familiales d’ÉGG ont été identifiés. La majorité d'entre elles codent pour des canaux ioniques incluant le récepteur-ligand GABAA (RGABAA). De ce groupe, des mutations ont été identifiées dans quatre sous-unités du récepteur GABAA. Dans un premier temps, l’objectif général de cette thèse vise l’évaluation de la composante génétique de notre cohorte d’ÉGG expliquée par les gènes codant pour les sous-unités du récepteur GABAA. Puis, dans un second souffle, le rôle des variants identifiés est défini et analysé afin de mieux cerner leurs impacts dans la pathogénèse de ce phénotype. La première partie du projet consiste en une analyse exhaustive des mutations existantes dans la partie codante des 19 gènes GABRA pour des patients atteints d’ÉGG. En criblant des familles québécoises avec ÉGG, nous avons identifié 22 variants rares incluant 19 faux-sens et 3 non-sens dans 14 sous-unités du RGABAA. En séquençant ces gènes dans une grande cohorte de cas et de contrôles, nous avons établi le profil des variations rares pour ceux-ci. Ces données suggèrent qu’une proportion significative (8%) des patients atteints d’ÉGG ont des variants rares sur les gènes du RGABAA. La deuxième partie porte directement sur certains gènes identifiés lors de la première partie. De ce groupe, cinq nouvelles mutations ont été découvertes dans des gènes déjà associés à l’épilepsie (GABRA1 et GABRG2). Nous avons constaté l’impact de ces mutations dans les mécanismes génétiques de l’épilepsie, en mesurant les effets des variants sur la structure et la fonction du récepteur GABAA. La troisième partie se concentre sur notre hypothèse, voulant que les RGABAA mutants altèrent l’effet du GABA durant le développement du système nerveux central (SNC). L’objectif principal vise à déterminer la contribution relative de chacune des sous-unités mutées dans le développement du SNC. Ainsi, nous avons démontré qu’une telle perte de fonction a un impact significatif sur le développement des synapses GABAergiques et glutamatergiques ainsi que sur la plasticité des circuits corticaux. Nos résultats nous ont permis de préciser comment les mutations dans les gènes GABRA peuvent mener à l’ÉGG. Éventuellement, la caractérisation moléculaire de ces mutations contribuera à l’élaboration de nouveaux outils diagnostiques et facilitera la mise au point de traitements mieux ciblés pour les gens atteints de cette condition neurologique chronique.
Genetic generalized epilepsy (GGE) syndrome is a group of epilepsy disorders that occur early in childhood and adolescence. Genetics generalized epilepsies (GGE) account for approximately 30 % of all epilepsy syndromes. There is currently no cure for GGE. Although patients with GGE typically have no anatomical brain abnormalities, the root cause of these conditions is considered to be genetic in origin. An increasing number of genes predisposing to epilepsy have been identified over the past ten years. It has emerged in many cases that the causative genes for inherited epilepsies code for ion-channels such as the GABAA receptor (GABAAR). Among these genes, mutations in four subunits of the GABAA receptor appear to be an important cause of familial epilepsy. The main aim of the present thesis is to better characterize the genetic component of our GGE cohort explain by GABRA genes and evaluated the critical role of these variants in the pathogenesis of this phenotype. The first part of our project was to investigate the impact of rare variants of GABAAR in GGE, we screened the coding regions of 19 genes encoding for all the known subunits of the GABAAR in unrelated GGE patients, including familial cases. Overall, approximately 8% of our GGE individuals have novel GABRA mutations, including 19 missenses and 3 nonsenses including 1 frameshift mutation. By sequencing those genes in a large cohort of cases and controls, we were able to establish the profile of rare variants for these genes. Our data suggest that a significant proportion of GGE patients share rare variants in GABRA genes. The second part of the work builds on the genes bearing mutations identified in the sequencing analysis. Among this group, five novel mutations have been so far associated to this syndrome (GABRA1 and GABRG2). We characterized the gating properties of GABA-evoked currents and the subcellular localization of the mutated subunits by expressing recombinant GABAA receptors in vitro. The third part of the work aimed to characterize the impact of mutated GABAA receptors on synapse formation and development of neuronal networks. By knocking down these genes in cortical organotypic slices, we provided a better understanding of the specific and distinct neural circuit alterations caused by different GABRA1 mutations and help define the pathophysiology of genetic generalized epilepsy syndromes. We believe that these findings will allow a better understanding of the genetic mechanisms underlying the disease and involve mutations in GABAA receptors in critical mechanisms leading to epilepsy. Eventually, our results could lead to a better diagnosis and counteract the devastating effects of some GGEs early on before this complex condition has had the opportunity to be established.
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35

Ventura, Magda Sofia Queiroz. "Estudo das variáveis sociodemográficas e estigma de doentes com esclerose mesial do lobo temporal e epilepsia generalizada genética." Master's thesis, 2017. https://repositorio-aberto.up.pt/handle/10216/106302.

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36

Ventura, Magda Sofia Queiroz. "Estudo das variáveis sociodemográficas e estigma de doentes com esclerose mesial do lobo temporal e epilepsia generalizada genética." Dissertação, 2017. https://repositorio-aberto.up.pt/handle/10216/106302.

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