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1.
Epilepsy Behav ; 105: 106958, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32097884

RESUMO

BACKGROUND: This article intends to verify the association of dysfunctional beliefs of personality disorders with the executive performance in people with juvenile myoclonic epilepsy (JME). METHODS: Fifty-two patients (35 women, 67.3%) with JME aged 18-50 yrs. (32.3 ±â€¯9.7) were evaluated between May 2017 and April 2018 and compared with controls. All subjects were submitted to the Personality Beliefs Questionnaire (PBQ) (Beck & Beck, 1991; Savoia et al., 2006), Dysexecutive Questionnaire (DQ; Wilson et al., 1996; Macuglia et al., 2016), estimated intelligence quotient (IQ) using Vocabulary and Block Design tests, attention and executive functions evaluation (Controlled Oral Word Association (COWA), Digit Span, Trail Making Tests (TMT) A and B, Stroop and Wisconsin Card Sorting Test (WCST)). The inclusion criteria were as follows: diagnosis of JME (ILAE, 1989); age ≥18 yrs., schooling ≥ 11 yrs. and IQ ≥70. The inclusion criteria for the control group were the same except diagnosis of epilepsy. RESULTS: Compared with controls, patients presented higher scores in PBQ for personality disorders, namely Narcissistic (z = -0.79; p < 0.001), Borderline (z = -0.58; p = 0.002), Paranoid (z = -0.43; p = 0.017), and Histrionic (z = -0.39; p = 0.041). Executive functions were impaired when compared with controls in TMT A (z = -0.97; p = 0.038), TMT B (z = -0.65; p = 0.023), and COWA (z = -0.51; p = 0.001). Patients showed higher WCST scores for Errors (z = -1.62; p ≤ 0.001), Perseverative Errors (z = -0.77; p = 0.001), Non-Perseverative Errors (z = -1.01; p = 0.001), Conceptual Level Response (z = -1.56; p ≤ 0.001), Completed Categories (z = -2.12; p = 0.002), and Failure to Maintain Context (z = -0.49; p = 0.015). Personality Beliefs Questionnaire results showed correlation with lower values in TMT A, Antisocial (r = -0.298; p = 0.032), Narcissistic (r = -0.303; p = 0.029), Schizoid (r = - 0.410; p = 0.003), Histrionic (r = -0.341; p = 0.013), Passive-aggressive (r = -0.341; p = 0.015), and Obsessive-compulsive (r = -0.319; p = 0.021); TMT B results showed a trend for Obsessive-compulsive traits (r = -0.261; p = 0.052); COWA was correlated to Dependent (r = 0.319; p = 0.021); and Digit Span to Passive-aggressive (r = 0.287; p = 0.039). On WCST, Failure to Maintain Context was correlated to Avoidant (r = 0.335; p = 0.017). The DQ was not correlated with PBQ. CONCLUSION: People with JME presented dysfunctional beliefs of personality disorder that were correlated with executive dysfunction. These findings reinforce the need for psychological rehabilitation in these patients.


Assuntos
Função Executiva/fisiologia , Epilepsia Mioclônica Juvenil/diagnóstico , Epilepsia Mioclônica Juvenil/psicologia , Transtornos da Personalidade/diagnóstico , Transtornos da Personalidade/psicologia , Inquéritos e Questionários , Adolescente , Adulto , Criança , Feminino , Humanos , Testes de Inteligência , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Estudos Prospectivos , Teste de Sequência Alfanumérica , Adulto Jovem
2.
Epilepsy Behav ; 61: 90-96, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27344500

RESUMO

Precipitation and inhibition of seizures and epileptic discharges by sensory stimuli are receiving increasing attention because they provide insight into natural seizure generation in human epilepsies and can identify potential nonpharmacological therapies. We aimed to investigate modulation (provocation or inhibition) of epileptiform discharges (EDs) in mesial temporal lobe epilepsy (MTLE) versus idiopathic generalized epilepsy (IGE) by olfactory stimulation (OS) compared with standard provocation methods. The underlying hypothesis was that any response would be more likely to occur in MTLE, considering the anatomical connections of the temporal lobe to the olfactory system. This multicenter, international study recruited patients with either MTLE or IGE who were systematically compared for responses to OS using an EEG/video-EEG protocol including a 30-min baseline, twice 3-min olfactory stimulation with ylang-ylang, hyperventilation, and intermittent photic stimulation. The 95% confidence interval (CI) for the baseline EDs in each patient was calculated, and modulation was assumed when the number of EDs during any 3-min test period was outside this CI. A total of 134 subjects (55 with MTLE, 53 with IGE, and 26 healthy controls) were included. Epileptiform discharges were inhibited during OS in about half the patients with both MTLE and IGE, whereas following OS, provocation was seen in 29.1% of patients with MTLE and inhibition in 28.3% of patients with IGE. Olfactory stimulation was less provocative than standard activation methods. The frequent subclinical modulation of epileptic activity in both MTLE and IGE is in striking contrast with the rarity of reports of olfactory seizure precipitation and arrest. Inhibition during OS can be explained by nonspecific arousal. The delayed responses seem to be related to processing of olfactory stimuli in the temporal lobe, thalamus, and frontal cortex.


Assuntos
Encéfalo/fisiopatologia , Epilepsia Generalizada/fisiopatologia , Epilepsia do Lobo Temporal/fisiopatologia , Percepção Olfatória/fisiologia , Adolescente , Adulto , Estudos de Casos e Controles , Eletroencefalografia , Feminino , Lobo Frontal/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Lobo Temporal/fisiopatologia , Tálamo/fisiopatologia , Adulto Jovem
3.
Epilepsy Behav ; 19(3): 501-3, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20920847

RESUMO

Sexual dimorphism has already been described in temporal lobe epilepsy with mesial temporal sclerosis (TLE-MTS). This study evaluated the effect of gender on amygdala volume in patients with TLE-MTS. One hundred twenty-four patients with refractory unilateral or bilateral TLE-MTS who were being considered for epilepsy surgery underwent a comprehensive presurgical evaluation and MRI. Amygdalas of 67 women (27 with right; 32 with left, and 8 with bilateral TLE) and 57 men (22 with right, 30 with left, and 5 with bilateral TLE) were manually segmented. Significant ipsilateral amygdala volume reduction was observed for patients with right and left TLE. No gender effect on amygdala volume was observed. Contralateral amygdalar asymmetry was observed for patients with right and left TLE. Although no gender effect was observed on amygdala volume, ipsilateral amygdala volume reductions in patients with TLE might be related to differential rates of cerebral maturation between hemispheres.


Assuntos
Tonsila do Cerebelo/patologia , Epilepsia do Lobo Temporal/patologia , Caracteres Sexuais , Adolescente , Adulto , Feminino , Lateralidade Funcional , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Adulto Jovem
4.
Epilepsy Behav ; 14(2): 400-3, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19059360

RESUMO

The objective of the study was to describe the clinical characteristics and determine the lateralizing value of ictal Sign of the Cross (SC) as a complex hand automatism (CHA) in patients evaluated by video/EEG monitoring in a comprehensive epilepsy unit. We reviewed video/EEG data of 530 patients with epilepsy recorded in a tertiary epilepsy center from 2002 to 2008. Four patients were found to have manifested a CHA similar to the SC at least once during their complex partial seizures. All patients had unilateral right mesial temporal lobe epilepsy (TLE) refractory to medical treatment. The limbic system is often suggested as the critical site of religious experience. Moreover, it may be localized predominantly to the temporal regions of the right hemisphere. However, this rare and peculiar ictal manifestation may be related not only to the neural substrate and personality characteristics of TLE, but also to the general religious convictions of Brazilians.


Assuntos
Automatismo/etiologia , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/psicologia , Mãos , Movimento/fisiologia , Adolescente , Adulto , Criança , Eletroencefalografia , Feminino , Lateralidade Funcional , Humanos , Masculino , Pessoa de Meia-Idade , Observação/métodos , Religião , Estudos Retrospectivos , Gravação em Vídeo/métodos
5.
Epileptic Disord ; 20(5): 386-395, 2018 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-30378539

RESUMO

A lack of neurologists in Latin America forces primary health care providers to manage epilepsy. With the main goal of improving diagnostic and therapeutic management of patients with epilepsy through training of physicians in the primary health care level, the International League Against Epilepsy Education Commission (2013-2017) created a low-cost, regional, virtual course. The course, set-up in Moodle platform, was structured in eight modules, each lasting for a week. Teaching was based on written didactic material, videos, and interactive discussions, both in Spanish and Portuguese. Topics included epidemiology, diagnosis, classification, treatment, prognosis, social issues, and epilepsy policies. Each course was limited to 50 participants and priority was given to general practitioners. Certification was given to those approving the final examination. Since 2015, five courses have been developed, involving 143 participants from 17 countries and 21 tutors. Of the participants, 61% worked in primary health care services. A total of 129 participants (90%) completed the course, and 110 submitted the final examination with an approval rate of 95%. From 85 participants completing the course evaluation, 98% would recommend the course to other colleagues, and 99% showed interest in taking other similar courses. High self-confidence for the management of patients with epilepsy increased from 21% at baseline to 73% after the course. The online course on epilepsy for primary care physicians in Latin America was shown to be a cost-effective course, with good retention and excellent approval rates. Our current challenges include periodic updating, complete self-sustainability, and exploring different strategies to reach our target audience more effectively.


Assuntos
Instrução por Computador , Epilepsia/diagnóstico , Epilepsia/terapia , Atenção Primária à Saúde/economia , Análise Custo-Benefício , Humanos , América Latina , Papel do Médico , Estados Unidos
8.
Seizure ; 15(7): 541-51, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16891128

RESUMO

INTRODUCTION: Intraoperative electrocorticography (ECoG) can be performed in cases of temporal lobe epilepsy due to hippocampal sclerosis (TLE-HS). However, its significance and correlation with surgical outcome are still controversial. OBJECTIVES: To analyze the electrophysiological characteristics of temporal lobe structures during ECoG of patients with TLE-HS, with emphasis on the comparison between pre- and post-resection recordings and surgical outcome. PATIENTS AND METHODS: Seventeen patients with refractory TLE-HS submitted to corticoamigdalohipocampectomy were included in the study. Clinical variables included age at the onset, duration of epilepsy and seizure outcome. The post-operative follow-up ranged from 24 to 36 months. According to outcome subjects were divided in two subgroups: (A) individuals free of seizures (Engel 1A), and (B) individuals not-free of seizures (Engel 1B-IV). Four patterns of ECoG findings were identified: isolated discharges; high frequency spikes (HFS); continuous discharges; combination of isolated discharges and HFS. According to predominant topography ECoG was classified as mediobasal, lateral (or neocortical), mediobasal and lateral. RESULTS: The progressive removal of the temporal pole and the hippocampus was associated with significant decrease of neocortical spikes. No correlation between clinical variables and seizure outcome was observed. Patients who only had isolated spikes on intraoperative ECoG presented a statistical trend for excellent surgical control. Patients who presented temporal pole blurring on MRI also had better post-surgical seizure outcome. CONCLUSIONS: This study showed that out of diverse clinical and laboratory variables, only isolated discharges on intraoperative ECoG and temporal pole blurring on MRI predicted excellent post-surgical seizure outcome. However, other studies with larger number of patients are still necessary to confirm these findings.


Assuntos
Lobectomia Temporal Anterior , Eletroencefalografia , Epilepsia do Lobo Temporal/fisiopatologia , Hipocampo/patologia , Lobo Temporal/fisiopatologia , Adulto , Epilepsia do Lobo Temporal/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monitorização Intraoperatória , Esclerose , Resultado do Tratamento
9.
Arq Neuropsiquiatr ; 64(2A): 193-7, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16791354

RESUMO

Occipital intermittent rhythmic delta activity (OIRDA) is considered good prognostic factor in typical absences (TA). We report electroclinical evolution in 14 patients with TA and OIRDA, which performed video-EEG. Seven patients were female; 9 had childhood absence epilepsy and the others did not present electroclinical characteristics for syndromic classification according to ILAE's classification (1989). Pyknolepsy was referred to in 13; TA was the only seizure type in 13; one had generalized tonic-clonic seizures (GTCS) and three had myoclonic jerks during TA. VPA monotherapy controlled seizures in 11, diVPA and ESM, in one each. After seizure control EEG normalized in 10 while in three, spike-wave complexes (SWC) persisted, accompanied by OIRDA in one. Finally in another, seizures were not controlled and SWC and OIRDA persisted. In conclusion, we observed in this series of TA and OIRDA with onset before 10 years, pyknolepsy as common finding and few GTCS. VPA controlled seizures in most cases and EEG normalized in 76.92%. We suggest that OIRDA could be considered good prognostic factor in TA associated with SWC and of epileptiform nature leading to appropriate investigation.


Assuntos
Ritmo Delta , Epilepsia Tipo Ausência/fisiopatologia , Adolescente , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia Tipo Ausência/tratamento farmacológico , Feminino , Humanos , Lactente , Masculino , Ácido Valproico/uso terapêutico
10.
Arq Neuropsiquiatr ; 61(3A): 580-7, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-14513161

RESUMO

The aim of this study is to compare ILAE classification (1989) and Panayiotopoulos' criteria (1997) for absence epilepsies. We studied 455 typical absences (ILAE, 1981) by video-EEG in 43 patients with normal neurological and neuroradiological examinations and interictal EEG with spike-wave complexes higher than 2.5Hz. Syndromic diagnosis was possible in 60.5% and 67.4% of the patients using ILAE classification and Panayiotopoulos' proposal, respectively. According to ILAE criteria 19 patients had childhood absence epilepsy (CAE), five juvenile absence epilepsy (JAE), one juvenile myoclonic epilepsy (JME) and one epilepsy with specific modes of seizure precipitation. According to Panayiotopoulos' proposal, 10 had CAE, 14 JAE, one JME, three myoclonic absence epilepsy and one eyelid myoclonia with absences. We conclude that Panayiotopoulos' criteria and ILAE classification for absence epilepsies, which did not allow for the classification of 32.6% and 39.5% of cases, respectively, were still insufficient to classify all patients under specific diagnosis.


Assuntos
Epilepsias Mioclônicas/classificação , Epilepsia Tipo Ausência/classificação , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Eletroencefalografia , Epilepsias Mioclônicas/fisiopatologia , Epilepsia Tipo Ausência/fisiopatologia , Seguimentos , Humanos , Lactente , Pessoa de Meia-Idade , Epilepsia Mioclônica Juvenil/diagnóstico , Síndrome , Gravação em Vídeo
11.
Arq Neuropsiquiatr ; 62(2A): 199-204, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15235717

RESUMO

UNLABELLED: The aim of this study was to determine the prevalence of epilepsy in the urban population of São José do Rio Preto. This is a medium-sized city of 336000 inhabitants, located in the northwest of the state of São Paulo, Brazil. METHOD: A cross-sectional epidemiological investigation with a randomized sample was performed in two phases, a screening phase and a confirmation of the diagnosis phase. The gold standard was a clinical investigation and neurological examination. The chi-square test was used in analysis of the results and p-value value < 0.05 was considered significant. Prevalence was calculated with 95% confidence interval. RESULTS: The study sample size was 17293 individuals, with distributions of gender, age, and race similar to the general population. The prevalence per 1000 inhabitants of epilepsy was 18.6, of these 8.2 were active, defined as at least one seizure within the last two years. The prevalence per 1000 inhabitants for the age groups (years) was 4.9 (04), 11.7 (514), 20.3 (1564) and 32.8 (65 or over). CONCLUSION: Prevalence of both accumulated and active epilepsy was elevated, comparable to other developing nations, in particular those of Latin America. However, the prevalence of epilepsy in childhood was low, whilst in aged individuals it was high similar to industrialized nations.


Assuntos
Epilepsia/epidemiologia , População Urbana , Adolescente , Adulto , Distribuição por Idade , Idoso , Brasil/epidemiologia , Criança , Pré-Escolar , Métodos Epidemiológicos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Vigilância da População , Inquéritos e Questionários
12.
Arq Neuropsiquiatr ; 71(3): 153-8, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23563714

RESUMO

OBJECTIVE: To evaluate clinical data, electroencephalogram, etiology, classification, treatment, morbidity, and mortality in acute refractory status epilepticus. METHODS: Fifteen patients, mean age of 41.3 years-old, six males, with refractory status epilepticus, were retrospectively studied. All of them were followed by serial electroencephalogram or continuous electroencephalographic monitoring. RESULTS: The most common comorbidity was hypertension. Seven (46.7%) patients were diagnosed with previous symptomatic focal epilepsy. More than one etiology was identified in 40.0% of the cases. Status epilepticus partial complex was the most common (n=14, 93.3%), and discrete seizures were the most observed initial ictal pattern. Continuous intravenous midazolam was used in nine (60.0%) patients and continuous thiopental in three (20.0%). Nine (60.0%) participants died, one (6.6%) had neurological sequelae, and five (33.3%) presented no neurological sequelae. CONCLUSIONS: Higher mortality rate was associated with advanced age and periodic lateralized epileptiform discharges. Midazolam proved to be a safe drug. The refractory status epilepticus is related to high mortality.


Assuntos
Estado Epiléptico/mortalidade , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Lactente , Masculino , Midazolam/uso terapêutico , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Convulsões/fisiopatologia , Fatores Sexuais , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/fisiopatologia , Resultado do Tratamento , Adulto Jovem
13.
Rev Neurol ; 56(4): 214-9, 2013 Feb 16.
Artigo em Espanhol | MEDLINE | ID: mdl-23400648

RESUMO

INTRODUCTION: Rasmussen's encephalitis (RE) is a progressive pathology affecting the brain that causes unilateral hemispheric atrophy, neurological dysfunction and refractory epilepsy. Hemispherotomy is considered the most effective treatment today, but some cases present certain peculiarities that can seriously affect the decision to go ahead with this procedure. AIMS: To evaluate the post-operative progress made by children with RE who have undergone hemispherotomy surgery, and who, in the pre-operative assessment, presented certain characteristics that complicated the decision to perform surgery. PATIENTS AND METHODS: The sample selected for study consisted of the cases of RE attended in the Hospital Sao Paulo between 2003 and 2012 who, in the pre-surgery evaluation, presented clinical, electroencephalographic or neuroimaging evidence of involvement of both brain hemispheres, compromise of the dominant brain hemisphere, absence of severe neurological deficit and absence of criteria for refractory epilepsy and atypical crises. The post-operative assessment of the epileptic seizures was evaluated using the Engel scale; motor function was analysed with the Gross Motor Function Classification System and Manual Ability Classification System scales, and language was evaluated clinically. RESULTS: Six cases were selected (four girls), with a mean age at clinical onset of 3.3 ± 1.2 years (range: 2-7 years) and a mean age at hemispherotomy of 6.7 years (range: 2.3-16.5 years). The mean post-surgery follow-up time was three years (range: 0.5-7.2 years). In the post-surgery evaluation of the epileptic seizures, four cases were classified as Engel class I (66%); there was some improvement in motor functioning in five of them, and language improved in all cases. CONCLUSIONS: Hemispherotomy must be considered an efficient option for treatment in children with RE.


Assuntos
Encefalite/cirurgia , Hemisferectomia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Resultado do Tratamento
15.
Arq. neuropsiquiatr ; 71(3): 153-158, mar. 2013. tab
Artigo em Inglês | LILACS | ID: lil-668766

RESUMO

Objective To evaluate clinical data, electroencephalogram, etiology, classification, treatment, morbidity, and mortality in acute refractory status epilepticus. Methods Fifteen patients, mean age of 41.3 years-old, six males, with refractory status epilepticus, were retrospectively studied. All of them were followed by serial electroencephalogram or continuous electroencephalographic monitoring. Results The most common comorbidity was hypertension. Seven (46.7%) patients were diagnosed with previous symptomatic focal epilepsy. More than one etiology was identified in 40.0% of the cases. Status epilepticus partial complex was the most common (n=14, 93.3%), and discrete seizures were the most observed initial ictal pattern. Continuous intravenous midazolam was used in nine (60.0%) patients and continuous thiopental in three (20.0%). Nine (60.0%) participants died, one (6.6%) had neurological sequelae, and five (33.3%) presented no neurological sequelae. Conclusions Higher mortality rate was associated with advanced age and periodic lateralized epileptiform discharges. Midazolam proved to be a safe drug. The refractory status epilepticus is related to high mortality. .


Objetivo Avaliar os dados clínicos, o eletroencefalograma, a etiologia, a classificação, o tratamento, a morbidade e a mortalidade do estado de mal epiléptico. Métodos Quinze pacientes, idade média de 41,3 anos, seis masculinos, foram avaliados retrospectivamente. Todos eles foram acompanhados por eletroencefalogramas seriados ou monitoração eletrencefalográfica contínua. Resultados A comorbidade mais comum foi hipertensão arterial. Sete (46,7%) pacientes tinham epilepsia focal sintomática prévia. Mais de uma etiologia foi identificada em 40,0% dos casos. O estado de mal epiléptico parcial complexo foi o mais frequente (n=14; 93,3%) e discrete seizures foram os padrões ictal inicial mais observados. Midazolam contínuo foi usado em nove (60,0%) pacientes e tiopental contínuo em três (20,0%). Nove (60,0%) participantes morreram, um (6,6%) teve sequelas neurológicas e cinco (33,3%) não apresentaram sequelas. Conclusões Alta taxa de mortalidade foi associada com idade avançada e com a presença de descargas periódicas epileptiformes lateralizadas. Midazolam provou ser uma droga segura. Estado de mal epiléptico refratário está associado à alta mortalidade. .


Assuntos
Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Estado Epiléptico/mortalidade , Fatores Etários , Anticonvulsivantes/uso terapêutico , Eletroencefalografia , Midazolam/uso terapêutico , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Convulsões/fisiopatologia , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/fisiopatologia , Resultado do Tratamento
16.
Epilepsy Behav ; 8(3): 606-9, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16504593

RESUMO

In this cross-sectional study, the neuropsychiatric profiles of 42 patients with juvenile myoclonic epilepsy (JME) who were treated with valproate (VPA) or topiramate (TPM) in monotherapy were compared with the aim of verifying the relationship between cognitive dysfunction, psychiatric disorders, and factors related to epilepsy. Patients with JME taking VPA 500-1750 mg/day or TPM 50-175 mg/day were selected. For all patients, psychiatric profiles were evaluated with the Scheduled Clinical Interview, axes I and II (SCID I and SCID II), or the Brazilian version of the Schedule for Affective Disorders and Schizophrenia for School-Aged Children (K-SADS-PL). Neuropsychological measures included intellectual functions, attention, memory, executive functions, and language. Patients taking TPM exhibited worse neuropsychological performance on attention, short-term memory, processing speed, and verbal fluency functions related to frontal lobes, which may be dysfunctional in JME. Anxiety disorders were associated with lack of seizure control and having had more than 20 lifetime generalized tonic-clonic seizures.


Assuntos
Anticonvulsivantes/uso terapêutico , Frutose/análogos & derivados , Transtornos Mentais/etiologia , Epilepsia Mioclônica Juvenil/psicologia , Ácido Valproico/uso terapêutico , Adolescente , Anticonvulsivantes/efeitos adversos , Transtornos de Ansiedade/etiologia , Estudos Transversais , Transtorno Depressivo/etiologia , Feminino , Frutose/efeitos adversos , Frutose/uso terapêutico , Humanos , Masculino , Epilepsia Mioclônica Juvenil/complicações , Epilepsia Mioclônica Juvenil/tratamento farmacológico , Testes Neuropsicológicos , Convulsões/complicações , Topiramato , Ácido Valproico/efeitos adversos
17.
Epilepsia ; 47(1): 211-4, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16417552

RESUMO

PURPOSE: Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray-matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant pattern. Heterozygotic female patients usually remain asymptomatic until the second or third decade of life, when they may have predominantly focal seizures, whereas hemizygotic male fetuses typically die in utero. Recent studies have also reported mutations in FLNA in male patients with PH who are cognitively normal. We describe PH in three male siblings with PH due to FLNA, severe developmental regression, and West syndrome. METHODS: The study includes the three affected brothers and their parents. Video-EEG recordings and magnetic resonance image (MRI) scanning were performed on all individuals. Mutations for FLNA were detected by using polymerase chain reaction (PCR) on genomic DNA followed by single-stranded conformational polymorphism (SSCP) analysis or sequencing. RESULTS: Two of the siblings are monozygotic twins, and all had West syndrome with hypsarrhythmia on EEG. MRI of the brain revealed periventricular nodules of cerebral gray-matter intensity, typical for PH. Mutational analyses demonstrated a cytosine-to-thymidine missense mutation (c. C1286T), resulting in a threonine-to-methionine amino acid substitution in exon 9 of the FLNA gene. CONCLUSIONS: The association between PH and West syndrome, to our knowledge, has not been previously reported. Males with PH have been known to harbor FLNA mutations, although uniformly, they either show early lethality or survive and have a normal intellect. The current studies show that FLNA mutations can cause periventricular heterotopia, developmental regression, and West syndrome in male patients, suggesting that this type of FLNA mutation may contribute to severe neurologic deficits.


Assuntos
Encefalopatias/genética , Coristoma/genética , Proteínas Contráteis/genética , Deficiências do Desenvolvimento/genética , Proteínas dos Microfilamentos/genética , Mutação/genética , Espasmos Infantis/genética , Encefalopatias/epidemiologia , Encefalopatias/patologia , Ventrículos Cerebrais/patologia , Coristoma/epidemiologia , Coristoma/patologia , Análise Mutacional de DNA , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/patologia , Eletroencefalografia/estatística & dados numéricos , Feminino , Filaminas , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Genótipo , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Mutação de Sentido Incorreto/genética , Linhagem , Fenótipo , Fatores Sexuais , Espasmos Infantis/epidemiologia , Gravação de Videoteipe
18.
Epilepsia ; 46(1): 69-75, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15660770

RESUMO

PURPOSE: Hyperventilation is an activation method that provokes physiological slowing of brain rhythms, interictal discharges, and seizures, especially in generalized idiopathic epilepsies. In this study we assessed its effectiveness in inducing focal seizures during video-EEG monitoring. METHODS: We analyzed the effects of hyperventilation (HV) during video-EEG monitoring (video-EEG) of patients with medically intractable focal epilepsies. We excluded children younger than 10 years, mentally retarded patients, and individuals with frequent seizures. RESULTS: We analyzed 97 patients; 24 had positive seizure activation (PSA), and 73 had negative seizure activation (NSA). No differences were found between groups regarding sex, age, age at epilepsy onset, duration of epilepsy, frequency of seizures, and etiology. Temporal lobe epilepsies were significantly more activated than frontal lobe epilepsies. Spontaneous and activated seizures did not differ in terms of their clinical characteristics, and the activation did not affect the performance of ictal single-photon emission computed tomography (SPECT). CONCLUSIONS: HV is a safe and effective method of seizure activation during monitoring. It does not modify any of the characteristics of the seizures and allows the obtaining of valuable ictal SPECTs. This observation is clinically relevant and suggests the effectiveness and the potential of HV in shortening the presurgical evaluation, especially of temporal lobe epilepsy patients, consequently reducing its costs and increasing the number of candidates for epilepsy surgery.


Assuntos
Eletroencefalografia/métodos , Epilepsias Parciais/etiologia , Hiperventilação , Monitorização Fisiológica/métodos , Fenômenos Fisiológicos Respiratórios , Gravação de Videoteipe/métodos , Adolescente , Adulto , Idoso , Criança , Epilepsias Parciais/fisiopatologia , Feminino , Humanos , Hiperventilação/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
19.
J. epilepsy clin. neurophysiol ; 15(4): 169-171, dez. 2009.
Artigo em Português | LILACS | ID: lil-545419

RESUMO

INTRODUÇÃO: Produzir tratamentos novos e efetivos aliados à prevenção adequada das epilepsias, a doença neurológica crônica grave mais comum e que acomete aproximadamente 1 por cento da população mundial, deve ser o principal objetivo dos sistemas de saúde de uma nação. OBJETIVOS: Nesse sentido, o principal objetivo de nosso artigo é divulgar a IV Escola Latino-Americana de Verão em Epilepsia entre os epileptologistas brasileiros.


INTRODUCTION: The development of new treatments and effective means to prevent the epilepsies, the most prevalent neurological disorder and that affects around 1 percent of worldwide population, must be the main goal of the health systems of a nation. OBJETIVES: Following these reasoning, the goal of our article is to promote the IV Latin-American Summer School on Epilepsy (LASSE) among Brazilian epileptologists.


Assuntos
Humanos , Educação em Saúde , Epilepsia/prevenção & controle
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