Les mutations du gène SCN1A, sont impliquées dans des épilepsies du nourrisson : le Syndrome de Dravet (SD), une épilepsie rare et pharmaco-résistante ou l’Epilepsie généralisée avec crises fébriles plus (GEFS+), une épilepsie plus légère. GEFS+ et SD sont associés à des crises épileptiques fébriles dès l’âge de 6 mois. Dans le SD on voit apparaitre des retards mentaux mais également des déficits moteurs, visuels, langagiers et mnésiques au cours de l’évolution de la maladie. L’impact des crises épileptiques au cours l’enfance sur ces déficits cognitifs n’est pas connu. Le SD est considéré comme une encéphalopathie épileptique où les crises étaient les principales responsables du phénotype à l’âge adulte. Récemment, un rôle potentiel de la mutation dans les troubles cognitifs a été mis en évidence changeant la définition de SD d’encéphalopathie épileptique à une canalopathie. La question est quel est le rôle des crises épileptiques répétées sur les fonctions cognitives à l’âge adulte ? Nous avons utilisé un modèle murin de la maladie portant une mutation du gène Scn1a, et qui présente une pathologie très légère. Nous avons induit des crises épileptiques par hyperthermie à l’âge de 21 jours (10 jours) et testé les effets à long-terme à l’âge adulte. Nos résultats révèlent que l’induction de crises induit une hyperactivité, des altérations dans les interactions sociales et des déficits en mémoires hippocampo et cortex préfronto-dépendantes. Ainsi nous avons mis en évidence que les crises épileptiques répétées pendant le développement ont un fort impact sur la fonction cérébrale et qu’il est donc capital de les prévenir afin de diminuer, voir de prévenir, ces déficits. / The SCN1A gene codes for the voltage-gated sodium channel Nav1.1 α-subunit. SCN1A mutations cause genetic epilepsies, as Generalized Epilepsy with Febrile Seizures plus (GEFS+), a mild epilepsy, or Dravet Syndrome (DS), a rare, severe and drug-resistant epileptic encephalopathy (EE). DS patients show severe cognitive/behavioral impairments that, according to the definition of EE, should be caused by the recurrent epileptic activity. Yet, this causal relationship has never been proved and it is been challenged by studies in mouse models showing that the genetic mutation itself, which causes a decrease in GABAergic activity, can be responsible for DS cognitive outcome. We studied the implication of repeated seizures during childhood to the later long-term modifications on cognitive/behavioral and epileptic phenotypes by submitting the Scn1a mouse model carrying the R1648H missense mutation and presenting mild phenotype to a protocol of repeated seizures induction by hyperthermia (10 days/one seizure per day). We observed that early life seizures can worsen the epileptic phenotype and induce cognitive/behavioral defects notably by inducing hyperactivity, sociability deficits and hippocampus- and prefrontal cortex-dependent memory deficits. We found that early life seizures can worsen the epileptic phenotype and induce cognitive/behavioral defects. Although the effect of NaV1.1 dysfunction in altering brain synchrony and the effect of repeated seizure activity in the young brain are not mutually exclusive, we thus conclude that epileptic seizures are sufficient to convert a Scn1a mouse model carrying a mild phenotype into a severe phenotype.

The Diploma thesis is focused on attitudes of helping profession to epilepsy. The aim of theoretical part is to introduce life with epilepsy and to increase public awareness of the illness. As a part of the thesis there is refuting myths and prejudices that are often cause of negative attitudes. Helping professions are a main part of life both of epileptics and their families as well their surroundings and their attitudes affect most of it so it is main sample of the research. Theoretical part is divided into few chapters. In the initial chapter there are defined basic concepts important for good orientation in the topic - stereotypes, prejudices and attitudes. Its theories, functions and changes are further described more in detail. Next chapters describe epilepsy from medical and social aspects such as Etiology of epilepsy, epileptic seizures classification, its diagnostics and treatment are mentioned there. First aid during epileptic seizures and role of social workers are not missing. Further diploma thesis covers problematics such as social stigmatization and myths connected with epilepsy. From wider perspective impact of epilepsy on social and personal life is revealed to readers. Research part of the diploma thesis was created by quantitative method using questionnaire survey. The aim of...

Title: Assessment of the attachment style as a part of the differential diagnosis of psychogenic non-epileptic seizures (PNES) Author: Bc. et Bc. Jana Heidingerová Thesis supervisor: doc. PhDr. Lenka Krámská, Ph.D. Pages: 101 Number of sources: 93 The thesis deals with the topic of psychogenic non-epileptic seizures (PNES) and their differential diagnosis in the context of attachment and its measuring. Based on theoretical knowledge, the relation between attachment disorders and the diagnosis of PNES was assumed. This connection was examined by comparing the results of three groups of respondents with different diagnoses (PNES, PNES and epilepsy, epilepsy) and a control group. The theoretical part deals with the problematics of attachment, PNES and epilepsy. The empirical part examines differences between groups of respondents, correlations of the variables with socio-demographic factors and correlations between results of each used method. Three questionnaires, PBI, ECR and ECR-RS were used for the research. The data were collected in the Epilepsy Centre at the Na Homolce Hospital. The research sample consisted of a total of 84 respondents. The results were statistically significant for numerous hypotheses. Research suggest that there are correlations of some subscales with socio-demographic...

This dissertation focuses on available means of the assessment of cognitive functions in neurological patients in the Czech environment. The main goal was to verify the psychometric qualities and usability of the Czech version of the Neuropsychological Assessment Battery (NAB). NAB is a test battery that assesses attention, language, memory, and spatial and executive functions. The theoretical part of the dissertation introduces the basic cognitive functions and diagnostic tools for their assessment; the next chapter focuses on NAB and especially its psychometric characteristics. Third chapter describes specific diseases (epilepsy and psychogenic seizures), their manifestations and impact on cognition. Empirical part included participation in the adaptation of NAB to the Czech language. During the research, a group of healthy volunteers (n = 116) and patients from the Epilepsy Monitoring Unit (n = 60) were tested by the NAB Screening Module. To verify the convergent validity of NAB-SM we administered Repeatable Battery for the Assessment of Neuropsychological Status (including an Effort Index) to a part of the sample. Based on the results, we can conclude that NAB-SM appears to be a suitable method for the assessment of cognitive functions in patients with psychogenic non-epileptic seizures. The...

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Elektroencefalografi (EEG) är en viktig metod för att upptäcka specifika avvikelser från homeostatiskt tillstånd. Sensitivitet och specificitet är av stor betydelse vid bedömning av den diagnostiska tillförlitligheten hos EEG metoden. Syftet med studien var att ge en övergripande översikt kring faktorer som påverkar sensitivitet och specificitet vid tre typfall med olika karaktär på EEG mönstret. De tre typfallen är sömndeprivering (låg aktivitet), epilepsi (hög aktivitet) och hjärtstopp (metabolisk aktivitet). Metoden som användes i studien var baserad på vetenskapliga artiklar som uppsöktes via databaserna Medline och PubMed. Inklusionskriterierna omfattade artiklar på engelska samt publicerad år 2010–2020. Sensitiviteten och specificiteten spelar stor roll vid prognosbedömningen efter ett hjärtstopp då patienten kan drabbas av ischemi och hjärnvävnaden skadas. Det finns flera olika metoder som genomförs vid EEG undersökningen. Dessa metoder är ambulatoriskt EEG, kontinuerlig EEG, Video EEG samt mobila EEG. Det gjordes en jämförelse mellan sensitiviteten och specificiteten för att se hur dessa påverkas och förändras vid de olika typfallen. Den viktiga slutsatsen var att metodiken spelade också en roll över hur sensitiviteten och specificiteten påverkades. / Electroencephalography (EEG) is an important method for detecting specific deviations from homeostatic status. Sensitivity and specificity are of great importance in assessing the diagnostic reliability of the EEG method. The purpose of the study was to provide an overall overview of the factors that affect sensitivity and specificity in three typical cases with different character of the EEG pattern. The three typical cases are sleep deprivation (low activity), epilepsy (high activity) and cardiac arrest (metabolic activity). The method used in the study was based on scientific articles that were searched via databases Medline and PubMed. The inclusion criteria included articles in English and published in 2010–2020. Sensitivity and specificity play a major role in the prognosis assessment after a cardiac arrest as the patient may suffer from ischemia and the brain tissue is damaged. There are several different methods used in the EEG survey. These methods are ambulatory EEG, continuous EEG, Video EEG and mobile EEG. A comparison was made between the sensitivity and the specificity to see how these are affected and changed in the different typical cases. The important conclusion was that the methodology also played a role in how the sensitivity and specificity were affected.

The goal of this research was to determine the procedures used for conducting a search and seizure in a tax-related offence in terms of the Criminal Procedure Act, Act 51 of 1977. Aspects that cause problems for the South African Revenue Service (SARS) investigators are the application for a search warrant and the activities that take place before, during and after the search and seizure. An introduction, definition and explanation are given of certain key concepts such as forensic and criminal investigations, as well as their objectives and purpose. The various search methods are also discussed and explained as are the chain of custody and evidence in general. A large part of this research deals with the legal requirements for a search and seizure in a tax-related offence and encompasses issues such as the procedures for obtaining a search warrant, pre-raid briefing, conducting the search, and the seizing of, marking, storage and disposal of documents. The findings of the research are discussed and recommendations subsequently made regarding the shortcomings identified. The findings that were made related to the process and procedure to obtain a search warrant, the actual execution of a search and seizure and the legislation that authorises searches and seizures in taxrelated offences. Further findings were made in respect of the mandate of SARS criminal investigators to investigate, the admissibility of evidence obtained from a search and seizure and the marking, recording, storage and disposal of seized items. Recommendations were made regarding training, improved communication and skills transfer to address the shortcomings identified. / Police Practice / (M.Tech. (Forensic investigation))

published_or_final_version / Criminology / Master / Master of Social Sciences

Tem sido estabelecido que microinjeções intraperitoneais (i.p) de Pentilenotetrazol, um antagonista não competitivo dos receptores GABAA, induzem crises convulsivas do tipo tônico-clônicas em animais de laboratório. Esse efeito convulsivante do PTZ ocorre devido ao bloqueio do fluxo de íons cloreto mediado pelo GABA. Adicionalmente, as crises convulsivas evocadas por PTZ em roedores são seguidas por antinocicepção. Tem sido sugerido que a estimulação elétrica do nervo vago pode reduzir as crises convulsivas e muitas das aferências do nervo vago ao núcleo do trato solitário (NTS) usam o glutamato como neurotransmissor. Há trabalhos mostrando que o NTS conectase ao núcleo reticular paragigantocelular (PGi), uma estrutura também responsável pela elaboração de pelo menos parte da antinocicepção pós-ictal, que o PGi projeta-se ao locus coeruleus, cuja estimulação também produz efeito anticonvulsivante e antinociceptivo.. Com intuito de investigar a participação do NTS nas crises convulsivas e na antinocicepção pós-ictal mediado por receptores glutamatérgicos locais do tipo NMDA e neurônios noradrenérgicos (NE) do LC, microinjeções de agonistas e antagonistas NMDA foram feitas no NTS, seguida da administração de PTZ por via i.p. Em adição foi investigado os efeitos da lesão neurotóxica do LC com administrações por via intratecal de DSP-4 , seguidas por microinjeções de NMDA no NTS sobre as crises convulsivas e antinocicepção pós-ictal induzidas por injeções de PTZ por via i.p. O bloqueio ionóforo de canais de cloreto ligado ao GABA causou crises convulsivas19 tônico-clônicas seguidas antinocicepção pós-ictal em todos os animais submetidos ao presente trabalho. Tanto as convulsões como a antinocicepção pós-ictal mostraram-se parcialmente dependentes da atividade de vias mediadas por aminoácidos excitatórios no núcleo do trato solitário, como da integridade do sistema noradrenérgico, pois o bloqueio de receptores de aminoácidos excitatórios do tipo NMDA no NTS e a administração intratecal de uma neurotoxina seletiva para neurônios noradrenérgicos alteraram a gravidade das crises tônico-clônicas e a intensidade da analgesia pós-ictal. Esses dados sugerem que o sistema glutamatérgico aferente ao NTS e tanto as vias noradrenérgicas ascendentes como descendentes do locus coeruleus são relevantes para o controle das atividades convulsivas e da antinocicepção pós-ictal. / Intraperitoneal injections of the non-competitive GABAA receptor antagonista pentylenetetrazole (PTZ) induce tonic-clonic seizures in laboratory animals. Tha convulsive effect of PTZ is due to GABA-mediated Cl- influx blockade. In addition, seizures caused by PTz in rodents are follwed by significant antinociception. The electrical stimulation of the vagus nerve is known to reduce seizures and several inputs from nervus vagus do the nucleus of the tractus solitarius (NTS) use glutamate as neurotransmitter. There are reports showing that the NTS is connected to the nucleus reticularis paragigantocellularis (PGi), a ventromedial medula oblongata structure also related to the elaboration of at least part of the post-ictal antinociception, and the PGi sends outputs to the locus coeruleus, whose stimulation also cause both anticonvulsant and antinociceptive effects. The goal of the present work was to investigate the involvement of the NTS in both seizures and post-ictal antinociception control mediated by NMDA receptors as well as the role played by noradrenergic neurons from locus coeruleus (LC). Either NMDA agonists or antagonists were microinjected in the NTS, followed by i.p. PTZ injections. In addition, it was investigated the effects of LC neurotoxic lesions with intrathecal injections of DSP-4, followed by NMDA receptor agonists microinjections in the NTS, on both tonic-clonic seizures and post-ictal antinociception elicited by peripheral administrations of PTZ. The ionophore blockade of GABA-mediated Cl- influx caused tonic-clonic seizures follwed by significant post21 ictal antinociception in all animals submitted to the present work. Both tonic-clonic seizures and the post-ictal antinociception were percially dependent of the neural activity of excitatory aminoacid-mediated neurotransmission in the NTS of seizing Wistar rats in addition to the integrity of noradrenergic system, since the NMDA receptors blockade in the NTS and the intra-thecal administration of DSP-4 . The neurotoxin selective to LC noradrenergic neurons modified the severity of tonic-clonic seizures and the intensity of post-ictal antinociception. These findings suggest that the glutamatergic inputs to the NTS, in addition to ascending and descending noradrenergic pathways from LC are critical to the control of both seizures and post-ictal antinociception.

INTRODUÇÃO: As crises não-epilépticas psicogênicas são uma condição médica complexa que pode se apresentar como sintomas físicos ou neurológicos porém sem achados orgânicos correspondentes, evidenciando a presença de fatores psicológicos como base dos sintomas. Elas podem ocorrer isoladamente ou se repetir de forma sistemática. Quando se repetem podem estar associadas à baixa auto-estima, perda de emprego, dificuldade nas relações amorosas e sociais. A esta condição clínica denomina-se transtorno de crises não-epilépticas psicogênicas (TCNEP). Dentre os fatores de risco para TCNEP, os mais amplamente estudados são a história de trauma e os fenômenos dissociativos. MÉTODOS: Neste estudo caso-controle, cujos dados foram obtidos entre janeiro de 2003 e setembro de 2009, foram avaliados 20 pacientes portadores de TCNEP e 20 pacientes com epilepsia do lobo t e m p o r a l , a p ó s m o n i t o r a ç ã o p r o l o n g a d a em u n i d a d e d e vídeo-eletroencefalografia (VEEG). Foram excluídos os sujeitos com associação das duas patologias. Os grupos foram pareados quanto ao gênero, faixa etária, anos de escolaridade formal e classe social. Também foram avaliados: idade de início das crises, idade do diagnóstico, pior frequência de crises e classificação social. Os pacientes responderam também a dois instrumentos estruturados e validados no Brasil, um quanto à história de trauma na infância e adolescência (QUESI), e outro sobre a presença de fenômenos dissociativos (DES) ao longo da vida. RESULTADOS: 1) Não houve diferença significativa do ponto de vista estatístico no que diz respeito ao gênero, faixa etária, classificação social, e frequência de crises; 2) Houve diferença estatisticamente significativa na escolaridade (p=0,006); 3) No grupo caso, a idade de início foi superior (22,25 DP 9,19) à do grupo controle (11,62 DP 9,59), p=0,007. Assim como a idade do diagnóstico, que foi de 30,79 (DP 11,33) no grupo de pacientes com TCNEP e de 15,97 (DP 9,67) nos pacientes com epilepsia, p<0,001; 4) A DES teve valores também estatisticamente significativos, sendo 53,35 (DP 23,15) no grupo com TCNEP e de 22,02 (DP 16,37) no grupo com epilepsia, p<0,001. Quanto às subescalas, todas tiveram resultados significativos entre os grupos; 5) O QUESI apresentou também resultados médios significativos, com média de 60,30 (DP 21,75) no grupo de TCNEP e de 45,40 (DP 12,27) no grupo com epilepsia, p=0,014, mas somente as subescalas que identificaram a negligência e o abuso emocionais foram estatisticamente significativas (p=0,013 e p=0,014 respectivamente). CONCLUSÕES: Fenômenos dissociativos e história de trauma na infância são mais frequentes nos pacientes com TCNEP do que nos pacientes com epilepsia. Todavia, em relação à história de trauma, apenas a negligência e o abuso emocionais podem estar associados à TCNEP / INTRODUCTION: Psychogenic non-epileptic seizures are a complex medical condition that may present as physical or neurologic symptoms but without corresponding organic findings, suggesting the presence of psychological factors as the basis of symptoms. They can occur alone or recur systematically. When recurrent they can be associated with low self-esteem, loss of employment, difficulty in intimate and other social relationships. This clinical condition is called a psychogenic non-epileptic seizures disorder (PNESD). Among the risk factors for PNESD, the most widely studied are the history of trauma and the presence of dissociative phenomena. METHODS: In this case-control study, with data obtained between January 2003 and September 2009, 20 patients with PNESD and 20 patients with temporal lobe epilepsy were evaluated after monitoring in video-electroencephalography unit. We excluded subjects with a combination of both conditions. The groups were matched for gender, age, length of school education and social class. We also evaluated age of onset, age at diagnosis and worse seizure frequency. Patientes of both groups responded two structured instruments for history of trauma in childhood and adolescence (QUESI) and FOR the presence of dissociative phenomena (DES) throughout life, both valitaded in Brazil. RESULTS: 1) There was no statistical significant difference between both groups regard to gender, age, social status and seizure frequency; 2) There was a statistical significant difference in education (p = 0.006); 3) Age of onset and at diagnosis in PNESD group were significantly higher (22.25 SD 9, 19) than the control group (11.62 SD 9.59), p = 0.007, as well as age of diagnosis were higher in patients with PNESD (30.79 SD 11.33) than in patients with epilepsy (15.97 SD 9.67), p <0.001; 4) DES values were also significantly higher in the PNESD group (53.35 SD 23.15) than control group (22.02 SD 16.37), p <0.001. As for the subscales all had significant results between groups; 5) QUESI\'s results were also significantly higher in the PNESD group (60.30 SD 21.75) than in epilepsy group (45.40 SD 12.27), p = 0.014, but only the subscales that identify emotional neglect and emotional abuse were statistical significantly in PNESD group (p = 0.013 and p =0.014 respectively). CONCLUSIONS: History of childhood trauma and dissociative phenomena are more common in patients with PNESD than in patients with epilepsy. However, in relation to history of trauma, only emotional neglect and emotional abuse may be associated with PNESD.