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[PMID]:28464258
[Au] Autor:Vorderwülbecke BJ; Kowski AB; Kirschbaum A; Merkle H; Senf P; Janz D; Holtkamp M
[Ad] Endereço:Department of Neurology, Epilepsy-Center Berlin-Brandenburg, Charité - University Medicine Berlin, Berlin, Germany.
[Ti] Título:Long-term outcome in adolescent-onset generalized genetic epilepsies.
[So] Source:Epilepsia;58(7):1244-1250, 2017 07.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Until now, it has been unclear if the three subsyndromes of adolescent-onset generalized genetic epilepsy (GGE) differ in long-term prognosis. Therefore, this study aimed to compare long-term seizure outcome in juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (EGTCS). METHODS: This retrospective study is based on the archive of an institutional tertiary care outpatient clinic for adult patients with epilepsy. Charts of 870 epilepsy outpatients were reviewed among whom 176 had adolescent-onset GGE (53 JAE, 66 JME, 57 EGTCS). Median patient age at investigation was 60 years; median follow-up time was 42.5 years. If possible, GGE patients were additionally interviewed on psychosocial and clinical variables. RESULTS: Age at first seizure was significantly higher in EGTCS patients (median 18 years) than in patients with JAE or JME (14 years each; p ≤ 0.001). Long-term seizure outcome hardly differed between the three subsyndromes. At the end of follow-up, 60% of all patients were in 5-year terminal seizure remission, and in 14%, epilepsy even had resolved (>10 years without seizures, >5 years without pharmacotherapy). Twenty percent of patients had persistent seizures during the last year of follow-up. Across all patients, 23% reported a psychiatric comorbidity, 87% had married, and 57% had achieved university entrance qualification. SIGNIFICANCE: Long-term outcome was shown to be highly similar across all subsyndromes of adolescent-onset GGE. Even in a selection of difficult-to-treat epilepsy patients still attending an adult epilepsy clinic, most become seizure-free. To confirm these findings, prospective studies are needed.
[Mh] Termos MeSH primário: Epilepsia Tipo Ausência/diagnóstico
Epilepsia Tipo Ausência/genética
Epilepsia Generalizada/diagnóstico
Epilepsia Generalizada/genética
Epilepsia Tônico-Clônica/diagnóstico
Epilepsia Tônico-Clônica/genética
Epilepsia Mioclônica Juvenil/diagnóstico
Epilepsia Mioclônica Juvenil/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Anticonvulsivantes/uso terapêutico
Epilepsia Tipo Ausência/tratamento farmacológico
Epilepsia Generalizada/tratamento farmacológico
Epilepsia Tônico-Clônica/tratamento farmacológico
Feminino
Seres Humanos
Masculino
Meia-Idade
Epilepsia Mioclônica Juvenil/tratamento farmacológico
Prognóstico
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticonvulsants)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:180107
[Lr] Data última revisão:
180107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13761


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[PMID]:28636645
[Au] Autor:Santos BPD; Marinho CRM; Marques TEBS; Angelo LKG; Malta MVDS; Duzzioni M; Castro OW; Leite JP; Barbosa FT; Gitaí DLG
[Ad] Endereço:Department of Cellular and Molecular Biology, Institute of Biological Sciences and Health, Federal University of Alagoas, Maceio, Alagoas, Brazil.
[Ti] Título:Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
[So] Source:PLoS One;12(6):e0179629, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Several genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies. METHODOLOGY: A systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sigle up to February 12, 2016. The quality of the included studies was assessed by a score and classified as low and high quality. Beyond outcome measures, information was extracted on the setting for each study, characteristics of population samples and polymorphisms. RESULTS: Fifty studies met eligibility criteria and were used for data extraction. With a single exception, all studies used a candidate gene approach, providing data on 229 polymorphisms in or near 55 different genes. Of variants investigating in independent data sets, only rs2029461 SNP in GRM4, rs3743123 in CX36 and rs3918149 in BRD2 showed a significant association with JME in at least two different background populations. The lack of consistent associations might be due to variations in experimental design and/or limitations of the approach. CONCLUSIONS: Thus, despite intense research evidence established, specific genetic variants in JME susceptibility remain inconclusive. We discussed several issues that may compromise the quality of the results, including methodological bias, endophenotype and potential involvement of epigenetic factors. PROSPERO REGISTRATION NUMBER: CRD42016036063.
[Mh] Termos MeSH primário: Estudos de Associação Genética
Epilepsia Mioclônica Juvenil/genética
[Mh] Termos MeSH secundário: Conexinas/genética
Bases de Dados Factuais
Seres Humanos
Epilepsia Mioclônica Juvenil/patologia
Polimorfismo de Nucleotídeo Único
Proteínas Serina-Treonina Quinases/genética
Receptores de Glutamato Metabotrópico/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Connexins); 0 (Receptors, Metabotropic Glutamate); 0 (connexin 36); 0 (metabotropic glutamate receptor 4); EC 2.7.1.- (BRD2 protein, human); EC 2.7.11.1 (Protein-Serine-Threonine Kinases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170915
[Lr] Data última revisão:
170915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170622
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0179629


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[PMID]:28434203
[Au] Autor:Liu J; Wang LN; Wang YP
[Ad] Endereço:Department of Neurology, Xuanwu Hospital, Capital Medical University, Changchun Street 45, Beijing, China, 100053.
[Ti] Título:Topiramate monotherapy for juvenile myoclonic epilepsy.
[So] Source:Cochrane Database Syst Rev;4:CD010008, 2017 04 23.
[Is] ISSN:1469-493X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Topiramate is a newer broad-spectrum antiepileptic drug (AED). Some studies have shown the benefits of topiramate monotherapy in the treatment of juvenile myoclonic epilepsy (JME). However, there are no current systematic reviews to determine the efficacy and tolerability of topiramate monotherapy in people with JME. This is an updated version of the original Cochrane Review published in Issue 12, 2015. OBJECTIVES: To evaluate the efficacy and tolerability of topiramate monotherapy in the treatment of JME. SEARCH METHODS: For the latest update, on 21 February 2017 we searched Cochrane Epilepsy's Specialized Register, CENTRAL, MEDLINE, and ClinicalTrials.gov. We also searched ongoing trials registers, reference lists and relevant conference proceedings, and contacted study authors and pharmaceutical companies. SELECTION CRITERIA: We included randomized controlled trials (RCTs) investigating topiramate monotherapy versus placebo or other AED treatment for people with JME, with the outcomes of proportion of responders or experiencing adverse events (AEs). DATA COLLECTION AND ANALYSIS: Two review authors independently screened the titles and abstracts of identified records, selected studies for inclusion, extracted data, cross-checked the data for accuracy and assessed the methodological quality. We performed no meta-analyses due to the limited available data. MAIN RESULTS: We included three studies with 83 participants. For efficacy, a greater proportion of participants in the topiramate group had a 50% or more reduction in primarily generalized tonic-clonic seizures (PGTCS) compared with participants in the placebo group. There were no significant differences between topiramate versus valproate in participants responding with a 50% or more reduction in myoclonic seizures or in PGTCS or seizure-free. Concerning tolerability, we ranked AEDs associated with topiramate as moderate-to-severe, while we ranked 59% of AEDs linked to valproate as severe complaints. Moreover, systemic toxicity scores were higher in the valproate group than the topiramate group. We judged the quality of the evidence from the studies to be very low. AUTHORS' CONCLUSIONS: Since the last version of this review we found no new studies. This review does not provide sufficient evidence to support topiramate for the treatment of people with JME. Based on the current limited available data, topiramate seems to be better tolerated than valproate, but there were no more benefits of efficacy in topiramate compared with valproate. In the future, well-designed, double-blind RCTs with large samples are required to test the efficacy and tolerability of topiramate in people with JME.
[Mh] Termos MeSH primário: Anticonvulsivantes/uso terapêutico
Frutose/análogos & derivados
Epilepsia Mioclônica Juvenil/tratamento farmacológico
[Mh] Termos MeSH secundário: Adolescente
Anticonvulsivantes/efeitos adversos
Criança
Frutose/efeitos adversos
Frutose/uso terapêutico
Seres Humanos
Ensaios Clínicos Controlados Aleatórios como Assunto
Convulsões/tratamento farmacológico
Resultado do Tratamento
Ácido Valproico/efeitos adversos
Ácido Valproico/uso terapêutico
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Anticonvulsants); 0H73WJJ391 (topiramate); 30237-26-4 (Fructose); 614OI1Z5WI (Valproic Acid)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170801
[Lr] Data última revisão:
170801
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170424
[St] Status:MEDLINE
[do] DOI:10.1002/14651858.CD010008.pub3


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[PMID]:28341336
[Au] Autor:Jopowicz A; Piechal A; Kurkowska-Jastrzebska I
[Ad] Endereço:Instytut Psychiatrii i Neurologii/Institute of Psychiatry and Neurology, Warsaw, Poland.
[Ti] Título:Valproic acid malabsorption in 30 year-old female patient - Case study.
[So] Source:Neurol Neurochir Pol;51(3):259-262, 2017 May - Jun.
[Is] ISSN:0028-3843
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:AIM: Valproic acid (VPA) is used in epilepsy treatment and as a stabilizer in bipolar affective disorder for over 40 years. Although, the pharmacokinetic properties of valproic acid are well known, it is often forgotten that the formulation of the drug significantly influences its gastrointestinal absorption. CASE: We are describing the case of 30 year-old female patient, diagnosed at the age of 13 with juvenile myoclonic epilepsy. Complete ineffectiveness of the treatment was caused by malabsorption of sodium valproate and valproic acid in the patient. The change of the drug formulation resulted in a several times higher bioavailability of the drug and a partial improvement of the patient's clinical condition. COMMENTARY: Low concentration of valproic acid after administration the slow-released tablets are usually observed. However, a low bioavailability beside the bad compliance should be considered when the minimal level is extremely low during therapy. It is known that form of the drug, beside presence of food and its components, as well as gastrointestinal tract condition or interactions with other drugs can influence the drug level. Modification of the formulation of the drug may lead to improvement of absorption and increase its effectiveness.
[Mh] Termos MeSH primário: Composição de Medicamentos
Absorção Intestinal/efeitos dos fármacos
Síndromes de Malabsorção/sangue
Síndromes de Malabsorção/diagnóstico
Epilepsia Mioclônica Juvenil/sangue
Epilepsia Mioclônica Juvenil/tratamento farmacológico
Ácido Valproico/farmacocinética
Ácido Valproico/uso terapêutico
[Mh] Termos MeSH secundário: Adulto
Disponibilidade Biológica
Diagnóstico Diferencial
Eletroencefalografia/efeitos dos fármacos
Feminino
Seres Humanos
Processamento de Sinais Assistido por Computador
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
614OI1Z5WI (Valproic Acid)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170326
[St] Status:MEDLINE


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[PMID]:28025856
[Au] Autor:Ertem DH; Dirican AC; Aydin A; Baybas S; Sözmen V; Ozturk M; Altunkaynak Y
[Ad] Endereço:Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
[Ti] Título:Exploring psychiatric comorbidities and their effects on quality of life in patients with temporal lobe epilepsy and juvenile myoclonic epilepsy.
[So] Source:Psychiatry Clin Neurosci;71(4):280-288, 2017 Apr.
[Is] ISSN:1440-1819
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:AIM: The relation of epilepsy with psychiatric disorders is of great interest to researchers due to its behavioral, social, and cognitive outcomes. In this study, we explored psychiatric comorbidity and its effects on quality of life (QOL) in patients with mesial temporal lobe epilepsy (MTLE) and juvenile myoclonic epilepsy (JME). METHODS: Thirty patients with MTLE, 30 patients with JME, and 30 healthy controls underwent the Structured Clinical Interview for DSM-IV (SCID-I) to diagnose psychiatric disorders. None of the subjects had previously undergone psychiatric examination. The Quality of Life in Epilepsy Inventory-89 (QOLIE-89) was used to assess QOL. We compared psychiatric comorbidity among groups and evaluated its effects on QOL. RESULTS: We detected comorbid psychiatric disorders in 37% of patients with JME and in 57% of patients with MTLE. Comorbid psychiatric disorders were less frequent in healthy controls compared to the patient groups (P = 0.029). Comparing demographic and clinical features of patients with JME and MTLE and their mean QOL scores, there was no statistical difference. Furthermore, we compared QOLIE scores between patients with and without psychiatric comorbidity. JME patients with mood disorders had lower scores on the Attention/Concentration subscale (P = 0.013). MTLE patients with a psychotic disorder had lower scores on the Social Isolation, Energy, and Fatigue subscales (P = 0.045). Patients with somatoform disorders had higher Pain scores (P = 0.04). CONCLUSION: Our study suggests that comorbid psychiatric disorders negatively affect patients' QOL regardless of seizure syndrome. Comorbid psychiatric conditions should be determined to increase QOL in patients with epilepsy.
[Mh] Termos MeSH primário: Epilepsia do Lobo Temporal/epidemiologia
Transtornos do Humor/epidemiologia
Epilepsia Mioclônica Juvenil/epidemiologia
Transtornos Psicóticos/epidemiologia
Transtornos Somatoformes/epidemiologia
[Mh] Termos MeSH secundário: Adulto
Comorbidade
Feminino
Seres Humanos
Masculino
Qualidade de Vida
Turquia/epidemiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170426
[Lr] Data última revisão:
170426
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161228
[St] Status:MEDLINE
[do] DOI:10.1111/pcn.12499


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[PMID]:28012415
[Au] Autor:Saraswati N; Nayak C; Sinha S; Nagappa M; Thennarasu K; Taly AB
[Ad] Endereço:Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), India.
[Ti] Título:Comparing sleep profiles between patients with juvenile myoclonic epilepsy and symptomatic partial epilepsy: Sleep questionnaire-based study.
[So] Source:Epilepsy Behav;66:34-38, 2017 Jan.
[Is] ISSN:1525-5069
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Patients with epilepsy commonly report excessive daytime sleepiness and daytime fatigue, which may be attributed to the direct effect of seizures, a side effect of antiepileptic drugs or a combination of the two. The aim of the study was to compare sleep profiles in patients with juvenile myoclonic epilepsy (JME) and symptomatic partial epilepsy (PE) in drug naïve and treated patients using standardized sleep questionnaires. METHODS: Three study groups: - 1) juvenile myoclonic epilepsy (N=40) [drug naïve (N=20); On sodium valproate (SVA) (N=20)]; 2) symptomatic partial epilepsy (N=40) [drug naïve (N=20); On carbamazepine (CBZ) (N=20)]; 3) healthy controls (N=40) completed 3 standardized sleep questionnaires - Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, and NIMHANS Comprehensive Sleep Disorders Questionnaire. Scores were compared using t-test and Chi-squared tests (P≤0.005). RESULTS: The mean PSQI scores as well as the proportion of subjects with abnormal PSQI scores were higher in patients with JME and PE compared to controls. Although the mean ESS scores were comparable between patients with epilepsy and controls, the percentage of patients with partial epilepsy having abnormal ESS scores was higher. No significant differences were present between drug naïve and treatment monotherapy groups. Excessive daytime somnolence was reported more often by patients with JME compared to patients with partial epilepsy and controls. CONCLUSION: This study found that patients with epilepsy have a higher prevalence of poor sleep quality compared to controls. Moreover, a significantly higher percentage of patients with partial epilepsy had higher ESS scores compared to healthy controls. However, there was no difference between ESS and PSQI scores between drug naïve and treated patients with JME or PE. SIGNIFICANCE: Poor sleep quality is more prevalent in patients with epilepsy irrespective of the use of antiepileptic medications. Excessive daytime somnolence is more commonly seen in patients with partial epilepsy when compared to the general population.
[Mh] Termos MeSH primário: Anticonvulsivantes/farmacologia
Epilepsias Parciais/complicações
Epilepsia Mioclônica Juvenil/complicações
Transtornos do Sono-Vigília/diagnóstico
Transtornos do Sono-Vigília/etiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Anticonvulsivantes/administração & dosagem
Carbamazepina/administração & dosagem
Carbamazepina/farmacologia
Epilepsias Parciais/tratamento farmacológico
Feminino
Seres Humanos
Masculino
Epilepsia Mioclônica Juvenil/tratamento farmacológico
Transtornos do Sono-Vigília/classificação
Inquéritos e Questionários
Ácido Valproico/administração & dosagem
Ácido Valproico/farmacologia
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticonvulsants); 33CM23913M (Carbamazepine); 614OI1Z5WI (Valproic Acid)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170904
[Lr] Data última revisão:
170904
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161225
[St] Status:MEDLINE


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[PMID]:27912171
[Au] Autor:Bauer PR; Gorgels K; Spetgens W; van Klink NE; Leijten FS; Sander JW; Visser GH; Zijlmans M
[Ad] Endereço:Stichting Epilepsie Instellingen Nederland (SEIN), Achterweg 5, 2103 SW Heemstede, The Netherlands; Stichting Epilepsie Instellingen Nederland (SEIN), Dr. Denekampweg 20, 8025 BV Zwolle, The Netherlands; NIHR University College London Hospitals Biomedical Research Centre, UCL Institute of Neurology,
[Ti] Título:The topographical distribution of epileptic spikes in juvenile myoclonic epilepsy with and without photosensitivity.
[So] Source:Clin Neurophysiol;128(1):176-182, 2017 Jan.
[Is] ISSN:1872-8952
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Up to 30% of people with juvenile myoclonic epilepsy (JME) have photoparoxysmal responses (PPR). Recent studies report on structural and pathophysiological differences between people with JME with (JME+PPR) and without PPR (JME-PPR). We investigated whether electrophysiological features outside photic stimulation differ between these subtypes. METHODS: We analysed EEG recordings of people with JME at a tertiary epilepsy centre and an academic hospital. Photosensitivity was assessed in a drug-naïve condition. We compared the occurrence and involvement of posterior electrodes for focal abnormalities and generalised spike-wave activity in the EEG outside photic stimulation between JME+PPR and JME-PPR. RESULTS: We included EEG recordings of 18 people with JME+PPR and 21 with JME-PPR. People with JME-PPR had less focal abnormalities in the posterior brain regions than people with JME+PPR (19% vs 55%, p<0.05). There was no difference in the distribution of generalised spike-wave activity between people with JME+PPR and JME-PPR. CONCLUSION: This study demonstrates electrophysiological correlates of the previously described structural and physiological differences between JME+PPR and JME-PPR. SIGNIFICANCE: Findings support the hypothesis that posterior interictal EEG abnormalities reflect localised cortical hyperexcitability, which makes patients with JME more sensitive to photic stimuli.
[Mh] Termos MeSH primário: Potenciais de Ação
Mapeamento Encefálico/métodos
Eletroencefalografia/métodos
Epilepsia Reflexa/fisiopatologia
Epilepsia Mioclônica Juvenil/fisiopatologia
Estimulação Luminosa/métodos
[Mh] Termos MeSH secundário: Potenciais de Ação/fisiologia
Adolescente
Adulto
Criança
Epilepsia Reflexa/diagnóstico
Feminino
Seres Humanos
Masculino
Epilepsia Mioclônica Juvenil/diagnóstico
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170531
[Lr] Data última revisão:
170531
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161203
[St] Status:MEDLINE


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[PMID]:27861775
[Au] Autor:Syvertsen M; Hellum MK; Hansen G; Edland A; Nakken KO; Selmer KK; Koht J
[Ad] Endereço:Department of Neurology, Drammen Hospital, Vestre Viken Hospital Trust, Drammen, Norway.
[Ti] Título:Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway.
[So] Source:Epilepsia;58(1):105-112, 2017 Jan.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Despite juvenile myoclonic epilepsy (JME) being considered one of the most common epilepsies, population-based prevalence studies of JME are lacking. Our aim was to estimate the prevalence of JME in a Norwegian county, using updated diagnostic criteria. METHODS: This was a cross-sectional study, based on reviews of the medical records of all patients with a diagnosis of epilepsy at Drammen Hospital in the period 1999-2013. The study population consisted of 98,152 people <30 years of age. Subjects diagnosed with JME, unspecified genetic generalized epilepsy, or absence epilepsy were identified. All of these patients were contacted and asked specifically about myoclonic jerks. Electroencephalography (EEG) recordings and medical records were reevaluated for those who confirmed myoclonic jerks. Information about seizure onset was obtained from the medical records, and annual frequency of new cases was estimated. RESULTS: A total of 55 subjects fulfilled the diagnostic criteria for JME. The point prevalence was estimated at 5.6/10,000. JME constituted 9.3% of all epilepsies in the age group we investigated. Of subjects diagnosed with either unspecified genetic generalized epilepsy or absence epilepsy, 21% and 12%, respectively, had JME. We identified 21 subjects with JME (38%) who had not been diagnosed previously. Six subjects (11%) had childhood absence epilepsy evolving into JME. Between 2009 and 2013, the average frequency of JME per 100,000 people of all ages per year was estimated at 1.7. SIGNIFICANCE: A substantial portion of people with JME seem to go undiagnosed, as was the case for more than one third of the subjects in this study. By investigating subjects diagnosed with unspecified genetic generalized epilepsy or absence epilepsy, we found a prevalence of JME that was considerably higher than previously reported. We conclude that JME may go undiagnosed due to the underrecognition of myoclonic jerks. To make a correct diagnosis, clinicians need to ask specifically about myoclonic jerks.
[Mh] Termos MeSH primário: Epilepsia Mioclônica Juvenil/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Criança
Planejamento em Saúde Comunitária
Eletroencefalografia
Feminino
Seres Humanos
Classificação Internacional de Doenças
Masculino
Epilepsia Mioclônica Juvenil/diagnóstico
Noruega/epidemiologia
Prevalência
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170621
[Lr] Data última revisão:
170621
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13613


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[PMID]:27765558
[Au] Autor:Park KM; Lee BI; Shin KJ; Ha SY; Park J; Kim SE; Kim HC; Kim TH; Mun CW; Kim SE
[Ad] Endereço:Department of Neurology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, South Korea.
[Ti] Título:Juvenile myoclonic epilepsy may be a disorder of cortex rather than thalamus: An effective connectivity analysis.
[So] Source:J Clin Neurosci;35:127-132, 2017 Jan.
[Is] ISSN:1532-2653
[Cp] País de publicação:Scotland
[La] Idioma:eng
[Ab] Resumo:Although juvenile myoclonic epilepsy has been considered as a disorder of thalamo-cortical circuit, it is not determined the causality relationship between thalamus and cortex. The aim of this study was to evaluate whether juvenile myoclonic epilepsy is a disorder of thalamus or cortex. Twenty-nine patients with juvenile myoclonic epilepsy and 20 normal controls were enrolled in this study. In addition, we included 10 patients with childhood absence epilepsy as a disease control group. Using whole-brain T1-weighted MRIs, we analyzed the volumes of the structures, including hippocampus, thalamus, and total cortex, with FreeSurfer 5.1. We also investigated the effective connectivity among these structures using SPSS Amos 21 based on these volumetric measures. The structural volumes in juvenile myoclonic epilepsy were not different from those in normal controls. There was a statistically significant effective connectivity from the total cortex to the thalamus in the patients with juvenile myoclonic epilepsy. In addition, a significant effective connectivity from the hippocampus to the ipsilateral thalamus was revealed. Unlike the patients with juvenile myoclonic epilepsy, neither the patients with childhood absence epilepsy nor normal controls had a significant effective connectivity from the total cortex to the thalamus or from the thalamus to the cortex. The connectivity of brain in patients with juvenile myoclonic epilepsy could be different from that in patients with childhood absence epilepsy, and the cortex rather than the thalamus might play a critical role in the pathogenesis of juvenile myoclonic epilepsy.
[Mh] Termos MeSH primário: Córtex Cerebral/patologia
Epilepsia Mioclônica Juvenil/patologia
Tálamo/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idade de Início
Idoso
Córtex Cerebral/diagnóstico por imagem
Criança
Pré-Escolar
Feminino
Substância Cinzenta/diagnóstico por imagem
Substância Cinzenta/patologia
Seres Humanos
Processamento de Imagem Assistida por Computador
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Modelos Neurológicos
Epilepsia Mioclônica Juvenil/diagnóstico por imagem
Vias Neurais/diagnóstico por imagem
Vias Neurais/patologia
Tálamo/diagnóstico por imagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170123
[Lr] Data última revisão:
170123
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161022
[St] Status:MEDLINE


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[PMID]:27665373
[Au] Autor:Yacubian EM
[Ad] Endereço:Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: yacubian@terra.com.br.
[Ti] Título:Juvenile myoclonic epilepsy: Challenges on its 60th anniversary.
[So] Source:Seizure;44:48-52, 2017 Jan.
[Is] ISSN:1532-2688
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Since its initial 1957 description, juvenile myoclonic epilepsy (JME) has been recognized as a common epileptic syndrome worldwide. METHODS: We reviewed a series of articles on JME to clarify challenges in clinical and pathophysiological findings, treatment and outcome. RESULTS: Typical JME characteristics include: 1) the age at seizure onset between 10 and 25 years; 2) the triad of myoclonia, generalized tonic-clonic seizures, and absences, of which only myoclonia is a mandatory criterion; 3) cognitive dysfunction that may have impact on interpersonal relationships and social outcome; 4) possibility of seizure control in up to 80% of individuals, in particular with the use of sodium valproate; 5) a tendency for lifelong seizures with an early morning preponderance; 6) after decades from the clinical onset, a possibility to be off medications for a third of the patients, and 7) several prognostic factors. CONCLUSION: After 60 years, several challenges remain in this complex epileptic syndrome.
[Mh] Termos MeSH primário: Envelhecimento
Aniversários e Eventos Especiais
Epilepsia Mioclônica Juvenil
[Mh] Termos MeSH secundário: Idade de Início
Anticonvulsivantes/uso terapêutico
Seres Humanos
Epilepsia Mioclônica Juvenil/diagnóstico
Epilepsia Mioclônica Juvenil/terapia
Ácido Valproico/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Anticonvulsants); 614OI1Z5WI (Valproic Acid)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170918
[Lr] Data última revisão:
170918
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160926
[St] Status:MEDLINE



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