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1.
Artigo em Russo | MEDLINE | ID: mdl-32929932

RESUMO

Viral encephalitis, its complications and the newly diagnosed epilepsy in children require a complex approach to the differential diagnosis using laboratory and instrumental examinations. Possibilities of MRI in the differential diagnosis of seizures in children and in detection of ischemic-hypoxic and metabolic disorders in the suspected epileptic focus are demonstrated in the clinical observation.


Assuntos
Eletroencefalografia , Epilepsia/diagnóstico , Criança , Diagnóstico Diferencial , Humanos , Imagem por Ressonância Magnética , Convulsões/diagnóstico
2.
Ann Biol Clin (Paris) ; 78(4): 441-445, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32633724

RESUMO

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


Assuntos
Epilepsia/diagnóstico , Hiperlactatemia/diagnóstico , Síndrome dos Cabelos Torcidos/diagnóstico , Diagnóstico Diferencial , Epilepsia/etiologia , Humanos , Hiperlactatemia/etiologia , Lactente , Masculino , Síndrome dos Cabelos Torcidos/complicações , Índice de Gravidade de Doença
3.
PLoS One ; 15(7): e0235674, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32649723

RESUMO

BACKGROUND: Non-adherence to anti-seizure medication (ASM) therapy is an important contributing factor to the higher mortality rate and treatment failure of epilepsy. This study aimed to determine the rate and factors associated with non-adherence to ASM therapy through the WHO five dimensions of medication adherence framework. METHODS: We conducted a cross-sectional study at an outpatient Neurology Clinic of a tertiary government hospital in Malaysia. Between March and July 2019, we identified 217 patients with a confirmed diagnosis of epilepsy, receiving oral ASM therapy and able to administer their medications. We performed a semi-structured interview to gather information on sociodemographic background, clinical and medication history, and perceptions on healthcare services. Adherence to ASM therapy was evaluated using the Medication Compliance Questionnaire (MCQ). Patient's illness perception was assessed by the Brief Illness Perception Questionnaire (B-IPQ). RESULTS: 208 patients participated in this study. The median age of the study participants was 35 years (IQR 26-44). 58.2% were females and majority, 55.8%, were from the Malay ethnic group. Based on the MCQ scoring, 89 patients (42.8%) were non-adherent. Multiple logistic regression demonstrated that being employed or students (adjusted odds ratio [aOR] 2.26, 95%CI: 1.19-4.29 p = 0.012) and having an average or below average perceived access to pharmacy services (aOR 2.94, 95%CI: 1.38-6.24, p = 0.005) were significant contributors to non-adherence. CONCLUSION: Being employed or students and having an average or below average perceived access to pharmacy services were associated with ASM non-adherence Efforts to improve ASM adherence should adopt a comprehensive approach considering the success of adherence is contingent on the interrelationship of multiple dimensions.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Adesão à Medicação/estatística & dados numéricos , Adulto , Área Sob a Curva , Estudos Transversais , Epilepsia/diagnóstico , Epilepsia/psicologia , Feminino , Humanos , Modelos Logísticos , Malásia , Masculino , Curva ROC , Inquéritos e Questionários , Centros de Atenção Terciária
4.
Neurol Sci ; 41(9): 2345-2351, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32696088

RESUMO

BACKGROUND: During COVID-19 lockdown, non-urgent medical procedures were suspended. Grade of urgency of electroencephalography (EEG) may vary according to the clinical indication, setting, and status of infection of SARS-CoV-2 virus. "Italian Society of Clinical Neurophysiology" (SINC), "Italian League Against Epilepsy" (LICE), and the "Italian Association of Neurophysiology Technologists" (AITN) aimed to provide clinical and technical recommendation for EEG indications and recording standards in this pandemic era. METHODS: Presidents of SINC, LICE, and AITN endorsed three members per each society to formulate recommendations: classification of the degree of urgency of EEG clinical indications, management and behavior of physicians and neurophysiology technologists, hygiene and personal protection standards, and use of technical equipment. RESULTS: Scientific societies endorsed a paper conveying the recommendation for EEG execution in accordance with clinical urgency, setting (inpatients/outpatients), status of SARS-CoV-2 virus infection (positive, negative and uncertain), and phase of governmental restrictions (phase 1 and 2). Briefly, in phase 1, EEG was recommended only for those acute/subacute neurological symptoms where EEG is necessary for diagnosis, prognosis, or therapy. Outpatient examinations should be avoided in phase 1, while they should be recommended in urgent cases in phase 2 when they could prevent an emergency room access. Reduction of staff contacts must be encouraged through rescheduling job shifts. The use of disposable electrodes and dedicated EEG devices for COVID-19-positive patients are recommended. CONCLUSIONS: During the different phases of COVID-19 pandemic, the EEG should be reserved for patients really benefiting from its execution in terms of diagnosis, treatment, prognosis, and avoidance of emergency room access.


Assuntos
Betacoronavirus , Infecções por Coronavirus/fisiopatologia , Eletroencefalografia/normas , Epilepsia/fisiopatologia , Pneumonia Viral/fisiopatologia , Guias de Prática Clínica como Assunto/normas , Sociedades Médicas/normas , Comitês Consultivos/normas , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Surtos de Doenças/prevenção & controle , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Humanos , Itália/epidemiologia , Pessoal de Laboratório Médico/normas , Neurofisiologia/métodos , Neurofisiologia/normas , Pandemias , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia
5.
Cell Mol Biol (Noisy-le-grand) ; 66(3): 39-47, 2020 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-32538745

RESUMO

This study was designed to investigate the expressions and roles of MMP-9 and HMGB1 in peripheral blood of patients with epilepsy and their relationship with the cognitive function and to explore factors affecting the prognosis of epilepsy patients. A total of 127 patients with epilepsy were collected in the study group and 120 healthy subjects receiving a physical examination at the same time were collected in the control group. The MMP-9 and HMGB1 expressions and their diagnostic value for epilepsy were compared between the two groups. The relationship between MMP-9 and HMGB1 expression levels and the clinical-pathological features and the Mini-mental State Evaluation Scale (MMSE) of patients from the study group were also analyzed. The serum levels of MMP-9 and HMGB1 in the study group were significantly higher than those in the control group (P< 0.001), and were greatly decreased after the treatment (P<0.001). The ROC curve showed that MMP-9 and HMGB1 combined detection had a good diagnostic efficiency for epilepsy. MMP-9 was much related to the type and disease duration of epilepsy (P< 0.05). HMGB1 was significantly associated with disease duration, seizure, and previous treatment history of epilepsy (P< 0.050). According to the Pearson correlation coefficient analysis, the expressions of MMP-9 and HMGB1 were negatively correlated with MMSE scores of the study group (P< 0.001). Logistic regression analysis showed that the duration of disease, seizures, MMP-9, and HMGB1 were independent risk factors for the prognosis of epilepsy. The expression levels of MMP-9 and HMGB1 in peripheral blood of patients with epilepsy are significantly increased, and negatively correlated with neurological function scores. They have potential involvement in the occurrence and development of epilepsy, which makes them significant for the diagnosis and treatment of epilepsy in the future.


Assuntos
Epilepsia/sangue , Epilepsia/diagnóstico , Proteína HMGB1/sangue , Metaloproteinase 9 da Matriz/sangue , Adulto , Idoso , Cognição/efeitos dos fármacos , Cognição/fisiologia , Epilepsia/tratamento farmacológico , Epilepsia/psicologia , Feminino , Proteína HMGB1/metabolismo , Humanos , Masculino , Metaloproteinase 9 da Matriz/metabolismo , Pessoa de Meia-Idade , Prognóstico , Curva ROC , Análise de Regressão , Fatores de Risco , Convulsões
6.
Neurology ; 95(5): e576-e590, 2020 08 04.
Artigo em Inglês | MEDLINE | ID: mdl-32518150

RESUMO

OBJECTIVE: To determine the incidence of first seizures, epilepsy, and seizure mimics in a geographically defined area using the updated 2014 International League Against Epilepsy (ILAE) definition, which allows an epilepsy diagnosis after a single seizure when the risk of further seizures over the next 10 years is ≈60% or greater. This replaced the 1993 definition by which epilepsy was diagnosed when a person had ≥2 seizures separated by 24 hours. METHODS: Using multiple overlapping methods of case ascertainment followed by individual case classification by an epileptologist, we identified all first seizures, new diagnosis of epilepsy, and seizure mimics occurring in a defined geographic area (population 542,868) from January 1, 2017, to December 31, 2017. Incidence was age standardized to the Standard European Population. We compared incidence rates using the 2014 and 1993 ILAE definitions. RESULTS: When the 2014 ILAE definition of epilepsy was applied, the incidence of new diagnosis of epilepsy was 62 per 100,000 (age standardized 74) compared to 41 per 100,000 (age standardized 48) when the 1993 definition was applied, and the difference was more pronounced at older ages. The incidence of all first seizures and of seizure mimics was 102 per 100,000 (age standardized 123) and 94 per 100,000 (age standardized 111), respectively. The most frequently encountered seizure mimic was syncope. CONCLUSION: Application of the 2014 ILAE definition of epilepsy resulted in a higher incidence of new diagnosis of epilepsy compared to the 1993 definition. The incidence of seizure mimics almost equals that of all first seizures. Seizures, epilepsy, and seizure mimics represent a significant burden to health care systems.


Assuntos
Epilepsia/complicações , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Convulsões/epidemiologia , Convulsões/etiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Adulto Jovem
8.
Clin Med (Lond) ; 20(4): e104-e106, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32518102

RESUMO

The COVID-19 pandemic will impact on how care for chronic conditions is delivered. We use epilepsy to exemplify how care for patients will be affected, and suggest ways in which healthcare systems can respond to deliver the most effective care. Where face-to-face outpatient appointments have been cancelled, telemedicine can facilitate remote clinical consultations for new and follow-up epilepsy clinic patients while reducing the risk of infection to both patients and healthcare staff. First-seizure patients will need investigation pathways rationalised, while those with chronic epilepsy will need to have reliable alternative avenues to access clinical advice. At the same time, neurologists should support emergency departments and acute medical units, advising on appropriate management of seizures and other acute neurological presentations. Ultimately, the revolution in our clinical practice is unlikely to cease after this pandemic, with reconfiguration of services likely to bring improvements in efficiency and convenience, and a reduced environmental impact.


Assuntos
Infecções por Coronavirus/complicações , Epilepsia/complicações , Epilepsia/tratamento farmacológico , Neurologia/organização & administração , Pneumonia Viral/complicações , Telemedicina , Anticonvulsivantes/provisão & distribução , Anticonvulsivantes/uso terapêutico , Doença Crônica , Serviço Hospitalar de Emergência , Epilepsia/diagnóstico , Epilepsia/etiologia , Humanos , Pandemias , Encaminhamento e Consulta
9.
J Neurovirol ; 26(3): 324-329, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32418055

RESUMO

Coronavirus disease 2019 (COVID-19) was reported at the end of 2019 in China for the first time and has rapidly spread throughout the world as a pandemic. Since COVID-19 causes mild to severe acute respiratory syndrome, most studies in this field have only focused on different aspects of pathogenesis in the respiratory system. However, evidence suggests that COVID-19 may affect the central nervous system (CNS). Given the outbreak of COVID-19, it seems necessary to perform investigations on the possible neurological complications in patients who suffered from COVID-19. Here, we reviewed the evidence of the neuroinvasive potential of coronaviruses and discussed the possible pathogenic processes in CNS infection by COVID-19 to provide a precise insight for future studies.


Assuntos
Ataxia/epidemiologia , Edema Encefálico/epidemiologia , Infecções por Coronavirus/epidemiologia , Encefalite Viral/epidemiologia , Epilepsia/epidemiologia , Esclerose Múltipla/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Síndrome Respiratória Aguda Grave/epidemiologia , Ataxia/complicações , Ataxia/diagnóstico , Ataxia/virologia , Betacoronavirus/efeitos dos fármacos , Betacoronavirus/imunologia , Betacoronavirus/patogenicidade , Barreira Hematoencefálica/patologia , Barreira Hematoencefálica/virologia , Edema Encefálico/complicações , Edema Encefálico/diagnóstico , Edema Encefálico/virologia , Sistema Nervoso Central/patologia , Sistema Nervoso Central/virologia , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/transmissão , Encefalite Viral/complicações , Encefalite Viral/diagnóstico , Encefalite Viral/virologia , Epilepsia/complicações , Epilepsia/diagnóstico , Epilepsia/virologia , Humanos , Esclerose Múltipla/complicações , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/virologia , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico , Pneumonia Viral/transmissão , Prevalência , Síndrome Respiratória Aguda Grave/complicações , Síndrome Respiratória Aguda Grave/diagnóstico , Síndrome Respiratória Aguda Grave/transmissão
10.
Neurology ; 94(20): e2139-e2147, 2020 05 19.
Artigo em Inglês | MEDLINE | ID: mdl-32321764

RESUMO

OBJECTIVE: To define and validate criteria for accurate identification of EEG interictal epileptiform discharges (IEDs) using (1) the 6 sensor space criteria proposed by the International Federation of Clinical Neurophysiology (IFCN) and (2) a novel source space method. Criteria yielding high specificity are needed because EEG over-reading is a common cause of epilepsy misdiagnosis. METHODS: Seven raters reviewed EEG sharp transients from 100 patients with and without epilepsy (diagnosed definitively by video-EEG recording of habitual events). Raters reviewed the transients, randomized, and classified them as epileptiform or nonepileptiform in 3 separate rounds: in 2, EEG was reviewed in sensor space (scoring the presence/absence of each IFCN criterion for each transient or classifying unrestricted by criteria [expert scoring]); in the other, review and classification were performed in source space. RESULTS: Cutoff values of 4 and 5 criteria in sensor space and analysis in source space provided high accuracy (91%, 88%, and 90%, respectively), similar to expert scoring (92%). Two methods had specificity exceeding the desired threshold of 95%: using 5 IFCN criteria as cutoff and analysis in source space (both 95.65%); the sensitivity of these methods was 81.48% and 85.19%, respectively. CONCLUSIONS: The presence of 5 IFCN criteria in sensor space and analysis in source space are optimal for clinical implementation. By extracting these objective features, diagnostic accuracy similar to expert scorings is achieved. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that IFCN criteria in sensor space and analysis in source space have high specificity (>95%) and sensitivity (81%-85%) for identification of IEDs.


Assuntos
Encéfalo/fisiopatologia , Eletroencefalografia , Epilepsia/fisiopatologia , Magnetoencefalografia , Adolescente , Adulto , Criança , Pré-Escolar , Eletroencefalografia/métodos , Epilepsias Parciais/fisiopatologia , Epilepsia/diagnóstico , Feminino , Humanos , Magnetoencefalografia/métodos , Masculino , Sensibilidade e Especificidade , Gravação em Vídeo/métodos , Adulto Jovem
11.
PLoS One ; 15(4): e0231442, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32298319

RESUMO

INTRODUCTION: Cardiac channelopathies are a frequent cause of sudden cardiac death (SCD) and often manifest with convulsive syncope, leading to a misdiagnosis of epilepsy. We aim to evaluate the clinical impact of epilepsy misdiagnosis in a cohort of patients with cardiac channelopathies. METHODS: Fifty probands/families with a cardiac channelopathy were included. We retrospectively collected information from medical records to identify all patients who presented with convulsive syncope and were diagnosed with epilepsy after neurological evaluation. Clinical data and outcome were compared with those of patients without a previous epilepsy diagnosis. RESULTS: Eight patients had a previous diagnosis of epilepsy. At first episode, 3 of them presented a positive family history of SCD and 5 showed a pathological electrocardiogram; half presented with sudden cardiac arrest (SCA) and the rest with recurrent syncope despite treatment with 1 or more anti-epileptic drugs. Five patients had long QT syndrome, 2 had catecholaminergic polymorphic ventricular tachycardia, and 1 had Brugada syndrome. Epilepsy misdiagnosis was associated with an increased risk of SCA/SCD (OR 6.92, P = .04), a delay of 12 years (P = .047) in correct diagnosis, and a delay from first symptom to channelopathy diagnosis of 18.45 years (P < .0001). CONCLUSION: Cardiac channelopathy patients can be misdiagnosed with epilepsy. This involves a delayed diagnosis, a delay from the first symptom to a correct diagnosis, and an increased risk of SCA/SCD.


Assuntos
Canalopatias/diagnóstico , Erros de Diagnóstico , Epilepsia/diagnóstico , Cardiopatias/diagnóstico , Adolescente , Adulto , Estudos de Casos e Controles , Canalopatias/complicações , Criança , Erros de Diagnóstico/efeitos adversos , Eletrocardiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Síncope/diagnóstico , Síncope/etiologia , Adulto Jovem
12.
Lancet ; 395(10225): 735-748, 2020 02 29.
Artigo em Inglês | MEDLINE | ID: mdl-32113502

RESUMO

Globally, as populations age there will be challenges and opportunities to deliver optimal health care to senior citizens. Epilepsy, a condition characterised by spontaneous recurrent seizures, is common in older adults (aged >65 years) and yet has received comparatively little attention in this age group. In this Review, we evaluate the underlying causes of epilepsy in older people, explore difficulties in establishing a diagnosis of epilepsy in this population, discuss appropriate antiseizure medications, and evaluate potential surgical treatment options. We consider cognitive, psychological, and psychosocial comorbidities and the effect that epilepsy might have on an older person's broader social or care network in high-income versus middle-income and low-income countries. We emphasise the need for clinical trials to be more inclusive of older people with epilepsy to help inform therapeutic decision making and discuss whether measures to improve vascular risk factors might be an important strategy to reduce the probability of developing epilepsy.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/terapia , Procedimentos Neurocirúrgicos/métodos , Idoso , Doença de Alzheimer/complicações , Doenças Autoimunes do Sistema Nervoso/complicações , Neoplasias Encefálicas/complicações , Transtornos Cerebrovasculares/complicações , Tomada de Decisão Clínica , Ensaios Clínicos como Assunto , Disfunção Cognitiva/epidemiologia , Comorbidade , Países Desenvolvidos , Países em Desenvolvimento , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Epilepsia/etiologia , Humanos , Incidência , Transtornos Mentais/epidemiologia , Prevalência , Estado Epiléptico/epidemiologia , Morte Súbita Inesperada na Epilepsia/epidemiologia
13.
Zh Vopr Neirokhir Im N N Burdenko ; 84(1): 109-117, 2020.
Artigo em Russo | MEDLINE | ID: mdl-32207750

RESUMO

PURPOSE: To conduct a systematic assessment of scientific publications devoted to pre-surgical examination of patients with intactable epilepsy. MATERIAL AND METHODS: We found, using PubMed and available Internet search tools, and analyzed 1.414 articles on pre-surgical diagnostics in patients with intractable epilepsy. RESULTS: Epilepsy is a chronic disorder caused by brain injury, which manifests as repeated epileptic seizures and is accompanied by a variety of personality changes. Mortality risks in the population of patients with uncontrolled intractable epilepsy significantly exceed those in the general population. Early onset of comprehensive treatment prevents pathological personality changes and reduces the risks of mortality. However, complete seizure control is not achieved in 30% of patients, and they develop pharmacoresistance later, which is the reason for considering these patients as candidates for surgical treatment. In the literature, many approaches to pre-surgical examination are described as each clinic has its own concept of pre-surgical diagnostics and its own approaches to surgical management. Based on the conducted analysis, we tried to summarize the received information and describe current ideas about pre-surgical examination of patients with intactable epilepsy. CONCLUSION: On the basis of analyzed literature, we performed a systematic assessment and the evaluated effectiveness of various approaches in the pre-surgical diagnostics of patients with intactable epilepsy.


Assuntos
Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia/diagnóstico , Humanos , Convulsões , Resultado do Tratamento
14.
Mol Genet Genomics ; 295(3): 751-763, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32146541

RESUMO

It is thought that despite highly variable phenotypic expression, 70-80% of all epileptic cases are caused by one or more genetic mutations. Next generation sequencing technologies, such as whole exome sequencing (WES), can be used in a diagnostic or research setting to identify genetic mutations which may have significant prognostic implications for patients and their families. In this study, 398 genes associated with epilepsy or recurrent seizures were stratified into tiers based on genotype-phenotype concordance, tissue gene expression, frequency of affected individuals with mutations and evidence from functional and family studies. WES was completed on 14 DNA samples (2 with known mutations in SCN1A and 12 with no known mutations) from individuals diagnosed with epilepsy using an Ion AmpliSeq approach. WES confirmed positive SCN1A mutations in two samples. In n = 5/12 samples (S-3 to -14) we identified potentially causative mutations across five different genes. S-5 was identified to have a novel missense mutation in CCM2; S-6 a novel frameshift mutation identified in ADGRV1; S-10 had a previously reported pathogenic mutation in PCDH19, whilst a novel missense mutation in PCDH19 was shown in S-12; and S-13 identified to have separate missense mutations in KCNA2 and NPRL3. The application of WES followed by a targeted variant prioritization approach allowed for the discovery of potentially causative mutations in our cohort of previously undiagnosed epilepsy patients.


Assuntos
Biomarcadores/análise , Epilepsia/diagnóstico , Epilepsia/genética , Exoma/genética , Mutação , Sequenciamento Completo do Exoma/métodos , Adolescente , Adulto , Caderinas/genética , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Proteínas Ativadoras de GTPase/genética , Testes Genéticos/métodos , Humanos , Lactente , Canal de Potássio Kv1.2/genética , Masculino , Prognóstico
15.
F1000Res ; 92020.
Artigo em Inglês | MEDLINE | ID: mdl-32201576

RESUMO

Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. DEE is genetically and phenotypically heterogeneous, and there is a plethora of genetic testing options to investigate the rapidly growing list of epilepsy genes. However, more than 50% of patients with DEE remain without a genetic diagnosis despite state-of-the-art genetic testing. In this review, we discuss the major advances in epilepsy genomics that have surfaced in recent years. The goal of this review is to reach a larger audience and build a better understanding of pathogenesis and genetic testing options in DEE.


Assuntos
Epilepsia/diagnóstico , Epilepsia/genética , Testes Genéticos , Genômica , Humanos
17.
J Headache Pain ; 21(1): 23, 2020 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-32122324

RESUMO

BACKGROUND: Migraine has many presumed comorbidities which have rarely been compared between samples with and without migraine. Examining the association between headache pain intensity and monthly headache day (MHD) frequency with migraine comorbidities is novel and adds to our understanding of migraine comorbidity. METHODS: The MAST Study is a prospective, web-based survey that identified US population samples of persons with migraine (using modified International Classification of Headache Disorders-3 beta criteria) and without migraine. Eligible migraine participants averaged ≥1 MHDs over the prior 3 months. Comorbidities "confirmed by a healthcare professional diagnosis" were endorsed by respondents from a list of 21 common cardiovascular, neurologic, psychiatric, sleep, respiratory, dermatologic, pain and medical comorbidities. Multivariable binary logistic regression calculated odds ratios (OR) and 95% confidence intervals for each condition between the two groups adjusting for sociodemographics. Modeling within the migraine cohort assessed rates of conditions as a function of headache pain intensity, MHD frequency, and their combination. RESULTS: Analyses included 15,133 people with migraine (73.0% women, 77.7% White, mean age 43 years) and 77,453 controls (46.4% women, 76.8% White, mean age 52 years). People with migraine were significantly (P < 0.001) more likely to report insomnia (OR 3.79 [3.6, 4.0]), depression (OR 3.18 [3.0, 3.3]), anxiety (OR 3.18 [3.0 3.3]), gastric ulcers/GI bleeding (OR 3.11 [2.8, 3.5]), angina (OR 2.64 [2.4, 3.0]) and epilepsy (OR 2.33 [2.0, 2.8]), among other conditions. Increasing headache pain intensity was associated with comorbidities related to inflammation (psoriasis, allergy), psychiatric disorders (depression, anxiety) and sleep conditions (insomnia). Increasing MHD frequency was associated with increased risk for nearly all conditions and most prominent among those with comorbid gastric ulcers/GI bleeding, diabetes, anxiety, depression, insomnia, asthma and allergies/hay fever. CONCLUSIONS: In regression models controlled for sociodemographic variables, all conditions studied were reported more often by those with migraine. Whether entered into the models separately or together, headache pain intensity and MHD frequency were associated with increased risk for many conditions. Future work is required to understand the causal sequence of relationships (direct causality, reverse causality, shared underlying predisposition), the potential confounding role of healthcare professional consultation and treatment, and potential detection bias.


Assuntos
Transtornos de Enxaqueca/epidemiologia , Transtornos de Enxaqueca/psicologia , Medição da Dor/métodos , Medição da Dor/psicologia , Inquéritos e Questionários , Adolescente , Adulto , Idoso , Ansiedade/diagnóstico , Ansiedade/epidemiologia , Ansiedade/psicologia , Estudos de Coortes , Comorbidade , Estudos Transversais , Depressão/diagnóstico , Depressão/epidemiologia , Depressão/psicologia , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Epilepsia/psicologia , Feminino , Cefaleia/diagnóstico , Cefaleia/epidemiologia , Cefaleia/psicologia , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/diagnóstico , Estudos Prospectivos , Fatores de Risco , Resultado do Tratamento , Estados Unidos/epidemiologia , Adulto Jovem
18.
J Clin Neurophysiol ; 37(2): 118-130, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32142022

RESUMO

Neurostimulation in epilepsy is a long standing established concept, and through experimental and clinical uses, our understanding of neurostimulation and neuromodulation has grown substantially. Noninvasive brain stimulation techniques use electromagnetic principles to noninvasively modulate brain activity in a spatiotemporally targeted manner. This review focused on the two predominant forms of noninvasive neurostimulation: transcranial magnetic stimulation (TMS) and transcranial direct current stimulation, and their current applications in the diagnosis and management of epilepsy. A number of small randomized sham-controlled studies suggest that both TMS and transcranial direct current stimulation may have a beneficial effect in decreasing seizure frequency in patients with medically refractory epilepsy, without significant side effects. Small pilot studies also suggest that TMS in combination with EEG may be used to develop quantitative biomarkers of cortical hyperexcitability in patients with epilepsy. Furthermore, TMS is already Food and Drug Administration-cleared for presurgical mapping of eloquent cortex, and preliminary studies suggest that navigated TMS represents a highly valuable clinical supplement for preoperative functional planning. Transcranial magnetic stimulation and transcranial direct current stimulation have shown great potential benefit for patients with epilepsy; however, further large multicenter randomized sham-controlled studies are needed to better optimize stimulation settings and protocols, define mechanisms of action, assess long-term effects, and clearly define roles and determine efficacy.


Assuntos
Epilepsia/diagnóstico , Epilepsia/terapia , Estimulação Transcraniana por Corrente Contínua/métodos , Estimulação Magnética Transcraniana/métodos , Humanos
19.
Zhonghua Er Ke Za Zhi ; 58(2): 118-122, 2020 Feb 02.
Artigo em Chinês | MEDLINE | ID: mdl-32102148

RESUMO

Objective: To summarize the clinical phenotypes of epilepsy in patients with GABRA1 gene variants. Methods: A total of 11 epileptic patients (4 boys and 7 girls) who were treated in the Department of Pediatrics, Peking University First Hospital from March 2016 to July 2019 and detected with GABRA1 gene heterozygous pathogenic variants by targeted next-generation sequencing were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively. Results: A total of 11 epileptic patients carried GABRA1 gene pathogenic variants, of whom 10 were de novo variants and the other one was inherited from the patient's mother. Two patients had the same variants. Six variants were novel. Ages at seizure onset ranged from 3 to 14 months, and the median age was 8 months. The seizure was first observed within 1 year in 10 patients and beyond 1 year of age in 1 patient. Multiple seizure types were observed, including focal seizures in 10 patients, generalized tonic clonic seizures (GTCS) in 3 patients, myoclonic seizures in 3 patients, and epileptic spasm in 2 patients. There were 5 patients with multiple seizure types. Sensitivity to fever was observed in 9 patients, among whom 6 patients had a history of status epilepticus. Two patients had photoparoxysmal response. Five patients had abnormal EEG background, and 6 patients had abnormal discharges in EEG during interictal phase. Brain magnetic resonance imaging (MRI) was normal in all patients. Developmental delay in various degrees was present in 9 patients. Among the 11 patients, Dravet syndrome was diagnosed in 5 patients, West syndrome in 2 patients, undiagnosed early-onset epileptic encephalopathy in 1 patient, and focal epilepsy in the other 3 patients. The ages at the last follow-up ranged from 8 months to 12 years. During follow-up, 8 patients were seizure-free for 6 months to 8 years, and 1 patient had discontinuation of medication. Conclusions: In epilepsy associated with GABRA1 gene variants, de novo pathogenic variants are more common than inherited. Most epilepsy caused by GABRA1 gene variants occurs in infancy. Most patients have multiple seizures and focal seizures are common. Most patients have a comparatively favorable prognosis, but they may still have varied degrees of developmental delay.


Assuntos
Encéfalo/diagnóstico por imagem , Deficiências do Desenvolvimento/genética , Epilepsia/diagnóstico , Epilepsia/genética , Convulsões/etiologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/etiologia , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Neuroimagem , Fenótipo , Receptores de GABA-A , Estudos Retrospectivos , Espasmos Infantis/diagnóstico
20.
Crit Care Nurs Clin North Am ; 32(1): 85-95, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32014163

RESUMO

It is unpredictable which stroke survivors will experience a seizure following a stroke. Stroke is a major cause of seizures. Critical care nurses need to know the risk factors, type of stroke at risk, stroke location, and severity for the poststroke patient who is at risk for an early or late seizure. Poststroke seizures require appropriate nursing assessments, management, and support.


Assuntos
Enfermagem de Cuidados Críticos , Eletroencefalografia , Epilepsia/diagnóstico , Convulsões/diagnóstico , Convulsões/etiologia , Acidente Vascular Cerebral/complicações , Encéfalo/patologia , Humanos , Fatores de Risco , Acidente Vascular Cerebral/classificação
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