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1.
Seizure ; 78: 109-112, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32344366

RESUMO

SARS-CoV-2, a novel zoonotic coronavirus, is currently spreading all over the world, causing a pandemic disease defined coronavirus disease 2019 (COVID-19). The spectrum of COVID-19 ranges from asymptomatic or mild infection to rapidly progressive, acute respiratory distress syndrome and death [1].To the best of our knowledge, status epilepticus has never been described as initial presentation of COVID-19. We report a patient affected by COVID-19 whose primary presentation was a focal status epilepticus.


Assuntos
Infecções por Coronavirus/diagnóstico , Epilepsias Parciais/diagnóstico , Pneumonia Viral/diagnóstico , Estado Epiléptico/diagnóstico , Idoso , Encéfalo/diagnóstico por imagem , Diagnóstico Diferencial , Eletroencefalografia , Feminino , Humanos , Imagem por Ressonância Magnética , Pandemias
3.
AJR Am J Roentgenol ; 214(6): 1343-1351, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32208007

RESUMO

OBJECTIVE. The purpose of this study was to investigate the influence of 3-T intraoperative MRI (ioMRI) on the extent of resection of pediatric focal epileptogenic lesions, residual lesion volumes, and postoperative seizure outcomes. MATERIALS AND METHODS. All surgical procedures for focal epilepsy from 2003 to 2017 were retrospectively reviewed. Patients were divided into two groups: those who underwent ioMRI and those who did not. Each group was subdivided into two subcategories according to preoperative MRI visualization of the lesion: those with well-defined and those with poorly defined lesions. The volumes of preoperative lesions and postoperative residual lesions were delineated. Outcome data and patient characteristics were reviewed. The results were compared between the two groups and the two subcategories. RESULTS. Eighty patients were included: 45 in the ioMRI group (24 with well-defined lesions, 21 with poorly defined lesions) and 35 in the non-ioMRI group (18 with well-defined lesions, 17 with poorly defined lesions). The well-defined lesions included tumors and vascular lesions. The poorly defined lesions included malformations of cortical development, hippocampal sclerosis, and tuberous sclerosis. The mean follow-up duration was 5.1 ± 3.3 years. The rate of gross total resection was not significantly different between the ioMRI and non-ioMRI groups (p = 0.46). However, ioMRI findings facilitated further resection during surgery, increasing gross total resection by an additional 11.1%. The ioMRI group had a significant reduction in percentage of residual volume (p < 0.001). Outcome data suggested that ioMRI is protective against poor Engel score (p = 0.048). Although ioMRI prolonged the mean operative time by 1.2 hours (p = 0.002), the additional time was not associated with additional complications. CONCLUSION. Integration of ioMRI into focal epilepsy surgery was associated with smaller residual lesions and was protective against poor Engel score. It prolonged the operative time but without increasing the number of complications.


Assuntos
Epilepsias Parciais/diagnóstico por imagem , Epilepsias Parciais/cirurgia , Cuidados Intraoperatórios , Imagem por Ressonância Magnética/métodos , Criança , Pré-Escolar , Meios de Contraste , Feminino , Humanos , Imageamento Tridimensional , Masculino , Estudos Retrospectivos
5.
Drugs ; 80(1): 73-78, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31933170

RESUMO

Cenobamate (XCOPRI®) is an oral, small molecule neurotherapeutic azole compound that is being developed by SK Life Science Inc. and Arvelle Therapeutics for the treatment of epilepsy. Based on results of two pivotal phase 2 trials, cenobamate was recently approved in the USA for use in the treatment of partial-onset seizures in adult patients. This article summarizes the milestones in the development of cenobamate leading to this first approval.


Assuntos
Anticonvulsivantes/uso terapêutico , Carbamatos/uso terapêutico , Clorofenóis/uso terapêutico , Epilepsia/tratamento farmacológico , Tetrazóis/uso terapêutico , Administração Oral , Adulto , Aprovação de Drogas , Epilepsias Parciais/tratamento farmacológico , Humanos
7.
Acta Neurol Scand ; 141(2): 132-140, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31745975

RESUMO

OBJECTIVES: This study aimed to determine the efficacy and safety of perampanel added to monotherapy in patients with focal-onset seizures, with or without secondarily generalized tonic-clonic seizures. MATERIALS & METHODS: In this multicentre, open-label trial, enrolled patients were treated with perampanel monotherapy. During a 12-week titration period, perampanel was incrementally increased by 2 mg/d over ≥2-week intervals. Patients then entered a 24-week maintenance period. The primary objective was to investigate the 50% responder rate in total seizure frequency, with 75% and 100% responder rates as secondary objectives. Treatment-emergent adverse events (TEAEs) and adverse drug reactions were recorded. A post hoc analysis was performed to investigate the effect of titration speed and different concomitant AEDs on the efficacy and safety of perampanel. RESULTS: Of the 85 patients analysed, seizure reductions of 50%, 75% and 100% were observed in 80.0% (95% confidence interval [CI]: 69.9-87.9), 71.8% (95% CI: 61.0-81.0) and 47.1% (95% CI: 36.1-58.2) during the maintenance period, respectively. The 50%, 75% and 100% response rates in patients with secondarily generalized tonic-clonic seizures were 87.5% (95% CI: 61.7-98.5), 87.5% (95% CI: 61.7-98.5) and 75.0% (95% CI: 47.6-92.7), respectively. The most common TEAEs were dizziness (50.0%), somnolence (9.8%) and headache (8.8%). The efficacy outcomes and safety profile of perampanel were more favourable with slow titration and relatively consistent when stratified by concomitant AEDs. CONCLUSIONS: Perampanel was effective and well tolerated as a first add-on to monotherapy in patients with focal-onset seizures, with or without secondarily generalized seizures.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsias Parciais/tratamento farmacológico , Piridonas/uso terapêutico , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do Tratamento , Adulto Jovem
8.
Brain Stimul ; 13(1): 109-116, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31606448

RESUMO

BACKGROUND: Transcranial direct current stimulation (tDCS) has been explored in epilepsy with limited samples, varied parameters, and inconclusive results. We aimed to study the efficacy of tDCS for patients with refractory focal epilepsy. METHOD: We conducted a randomized, double-blind, sham-controlled, and three-arm (Group 1 (sham), Group 2 (20-min), and Group 3 (2 × 20-min)) tDCS parallel multicenter study. The primary outcome measurement was seizure frequencies (SFs). The study consisted of 28-days baseline, 14-days treatment, and 56-days follow-up. The cathode was placed over the epileptogenic focus, and the current intensity was 2 mA. The generalized estimating equations model, one-way analysis of variance, chi-square and Kruskal-Wallis test were used for analysis. RESULTS: Of the 82 enrolled patients, 70 patients were included for final analysis (Group 1, n = 21; Group 2, n = 24; and Group 3, n = 25). There was a significant reduction in SFs for both active tDCS groups compared with the sham group. Patients in Group 2 showed a significantly 50.73-21.91% greater reduction in SFs that lasted for 4 weeks (p = 0.008-0.060). Patients in Group 3 showed a significantly 63.19-49.79% greater reduction in SFs compared with the sham group that lasted for 5 weeks (p = 0.011-0.045). Patients in Group 3 had a 64.98-66.32% greater reduction in SFs at W9-W10, when compared with Group 2 (p = 0.021-0.022). CONCLUSION: Fourteen consecutive days tDCS significantly decreased SFs in patients with refractory focal epilepsy, with 2 × 20-min daily stimulation protocol being superior to 20-min daily stimulation protocol.


Assuntos
Epilepsia Resistente a Medicamentos/terapia , Epilepsias Parciais/terapia , Estimulação Transcraniana por Corrente Contínua/métodos , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estimulação Transcraniana por Corrente Contínua/efeitos adversos , Resultado do Tratamento
9.
Cochrane Database Syst Rev ; 12: CD009324, 2019 12 11.
Artigo em Inglês | MEDLINE | ID: mdl-31823350

RESUMO

BACKGROUND: Epilepsy is a common neurologic disorder, affecting approximately 50 million people worldwide; nearly a third of these people have epilepsy that is not well controlled by a single antiepileptic drug (AED) and they usually require treatment with a combination of two or more AEDs. In recent years, many newer AEDs have been investigated as add-on therapy for focal epilepsy; losigamone is one of these drugs and is the focus of this systematic review. This is an update of a Cochrane Review first published in 2012 and updated in 2018. OBJECTIVES: To investigate the efficacy and tolerability of losigamone when used as an add-on therapy for focal epilepsy. SEARCH METHODS: For the latest update on 20 August 2019, we searched the Cochrane Register of Studies (CRS Web) and MEDLINE. CRS Web includes randomized or quasi-randomized, controlled studies from the Specialized Registers of Cochrane Review Groups including Cochrane Epilepsy, CENTRAL, PubMed, Embase, ClinicalTrials.gov, and the World Health Organization International Clinical Trials Registry Platform (ICTRP). Previously we searched trials registers and contacted the manufacturer of losigamone and authors of included studies for additional information. We did not impose any language restrictions. SELECTION CRITERIA: Randomized controlled, add-on studies comparing losigamone with placebo for focal epilepsy. DATA COLLECTION AND ANALYSIS: Two review authors independently assessed study quality and extracted data. The primary outcomes were 50% or greater reduction in seizure frequency and seizure freedom; the secondary outcomes were treatment withdrawal and adverse events. Results are presented as risk ratios (RRs) with 95% confidence intervals (CIs) or 99% CIs (for the individual listed adverse events to make an allowance for multiple testing). MAIN RESULTS: Two studies involving a total of 467 participants, aged over 18 years, were eligible for inclusion. Both studies assessed losigamone 1200 mg/day or 1500 mg/day as an add-on therapy for focal epilepsy. We assessed one study as being of good methodological quality while the other was of uncertain quality. For the efficacy outcomes, results showed that participants taking losigamone were significantly more likely to achieve a 50% or greater reduction in seizure frequency (RR 1.76, 95% CI 1.14 to 2.72; 2 studies, 467 participants; moderate-quality evidence), but associated with a significant increase of treatment withdrawal when compared with those taking placebo (RR 2.16, 95% CI 1.28 to 3.67; 2 studies, 467 participants; moderate-quality evidence). For the tolerability outcomes, results indicated that the proportion of participants who experienced adverse events in the losigamone group was higher than in the placebo group (RR 1.34, 95% CI 1.00 to 1.80; 2 studies, 467 participants; moderate-quality evidence). Dizziness was the only adverse event significantly reported in relation to losigamone (RR 3.82, 99% CI 1.69 to 8.64; 2 studies; 467 participants; moderate-quality evidence). Neither study reported the proportion of participants achieving seizure freedom. A subgroup analysis according to different doses of losigamone showed that a higher dose of losigamone (1500 mg/day) was associated with a greater reduction in seizure frequency than lower doses, but was also associated with more dropouts due to adverse events. AUTHORS' CONCLUSIONS: The results of this review showed that losigamone did reduce seizure frequency but was associated with more treatment withdrawals when used as an add-on therapy for people with focal epilepsy. However, the included studies were of short-term duration and uncertain quality. Future well-designed randomized, double-blind, placebo-controlled studies with a longer-term duration are needed. We did not find any new studies since the last version of this review. We judged the overall quality of the evidence for the outcomes assessed as moderate.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsias Parciais/tratamento farmacológico , Furanos/uso terapêutico , Quimioterapia Combinada/métodos , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto
10.
Zhonghua Er Ke Za Zhi ; 57(12): 943-949, 2019 Dec 02.
Artigo em Chinês | MEDLINE | ID: mdl-31795561

RESUMO

Objective: To investigate the electroclinical findings in epilepsy children with epileptic negative myoclonus (ENM) restricted to the lower limb as the first seizure type. Methods: Each retrieved electroencephalogram record performed between March 2011 and March 2018 at the Department of Pediatrics of Peking University First Hospital was searched with "midline" . There were 302 records of 175 patients with "benign" or "functional" midline spikes. A retrospective review of each patient's hospital record was performed. Thirteen patients had ENM restricted to the lower limb as the first seizure type. The clinical and electroencephalogram characteristics of them were analyzed. Results: Thirteen patients manifested ENM restricted to the lower limb as the first seizure type, diagnosed as benign childhood focal epilepsy with vertex spikes (BEVS). Six patients had ENM as the first and only seizure type during the short-time follow-up. Among them, there were 1 male and 5 females. The age at seizure onset was (2.5±0.7) years. One of them had electrical status epilepticus during sleep (ESES) identified on electroencephalogram at theage of 4 years and 8 months. The last follow-up age was (3.8±1.5) years. The remaining 7 patients developed nocturnal focal motor seizures. Among them, there were 4 males and 3 females. The age at seizure onset was (3.5±0.7) years. Two of them were diagnosed as BEVS evolving into benign childhood epilepsy with centrotemporal spikes (BECTS) and 5 were diagnosed as BEVS concurring with BECTS. The age at focal seizures was (4.1±0.6) years. The interval ranged from 1 month to 1 years. Six of 7 patients had electrical ESES with the age of (5.2±1.0) years. All had developmental regression, further diagnosed as atypical benign partial epilepsy (ABPE). The median age at last follow-up was 5.9 years. Five of 13 patients had repeated electroencephalogram records at our apartment, showing that epileptiform discharges in midline regions were significantly reduced either in frequency or amplitude with the improvement of ENM restricted to the lower limb and that independent epileptiform discharges in Rolandic regions from midline regions were noticed with the onset of nocturnal focal seizures. Conclusions: ENM restricted to the lower limb has a close association with vertex (midline) epileptiform discharges. ENM restricted to the lower limb as the first seizure type is a peculiar phenomenon of BEVS. Some patients could evolve into BECTS or overlap with BECTS, and further into ABPE. The age of seizure onset in BEVS with ENM restricted to the lower limb as the first symptom is a little earlier than in BECTS. Ignorance of the close association between midline spikes and ENM restricted to the lower limb may lead to misdiagnosis of these patients.


Assuntos
Epilepsias Parciais/diagnóstico , Epilepsia Rolândica/diagnóstico , Mioclonia/diagnóstico , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Convulsões/etiologia
11.
Epileptic Disord ; 21(5): 391-409, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31708489

RESUMO

At the time of the first meeting of the International League Against Epilepsy (ILAE) in 1909, surgical treatment for epilepsy had been accepted as an alternative therapy for over two decades, but was rarely practiced, considered a last resort for carefully selected patients. Localization was based on ictal semiology and identification of a structural lesion. Very few papers on epilepsy surgery were presented at ILAE meetings or published in Epilepsia during the first half of the 20th century. A modest explosion in interest in epilepsy surgery at mid-century resulted from recognition that "invisible" epileptogenic lesions could be identified by EEG, especially for temporal lobe epilepsy. Epilepsy surgery received a second boost in popularity toward the end of the 20th century with the advent of structural and functional neuroimaging, and the number of epilepsy centers worldwide doubled between the first Palm Desert conference in 1986 and the second Palm Desert conference in 1992. Neuroimaging also helped to increase application of surgical treatment to infants and young children with severe epilepsies. Epilepsy surgery was accepted as standard of care for drug-resistant focal epilepsy and was well-represented at international ILAE congresses and in Epilepsia. Advances continue into the 21st century with the introduction of laser ablation, and palliative neuromodulation approaches, which have greatly increased the population of patients who can benefit from surgery. Modern presurgical evaluation techniques have also made surgical treatment possible in many countries with limited resources. Three randomized control trials now have definitively proved the safety and efficacy of epilepsy surgery, however, this alternative therapy remains under-utilized even in the industrialized world, where less than 1% of potential candidates are being referred to epilepsy centers. Furthermore, those who are referred receive surgery an average of 20 years after onset of epilepsy, often too late to avoid irreversible disability. The major challenges in realizing the full potential of epilepsy surgery, therefore, are not as much in the continued improvement of the treatment itself, as they are in addressing the treatment gap that is preventing appropriate patients from being referred to full-service epilepsy centers.


Assuntos
Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia/história , Epilepsia/cirurgia , Procedimentos Neurocirúrgicos/história , Epilepsia Resistente a Medicamentos/história , Eletroencefalografia/métodos , Epilepsias Parciais/história , Epilepsias Parciais/cirurgia , Epilepsia do Lobo Temporal/história , Epilepsia do Lobo Temporal/cirurgia , História do Século XX , Humanos , Procedimentos Neurocirúrgicos/métodos
12.
Seizure ; 73: 46-50, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31734466

RESUMO

PURPOSE: Using an adult cohort of patients with focal epilepsy, we aimed to identify risk factors for development of drug-resistant epilepsy, which if identifiable would allow patients to receive appropriate counsel and earlier surgical treatment. METHODS: This is a case-control study nested within a cohort, 146 adult patients with focal epilepsy were included. Definitions were used in accordance with ILAE criteria. The odds ratio and its confidence interval were calculated. We performed a logistic regression analysis. RESULTS: Seventy-one [48.6%] patients met the criteria for drug-resistant epilepsy [cases] and 75 [51.4%] patients were controls. The mean age of patients was 44.5 ± 16.4 years. The most significant variables associated with developing drug-resistant epilepsy include younger age at diagnosis [18.75 vs. 32.2, p < 0.001], years of evolution of epilepsy [22.54 vs. 16.05, p < 0.001], number of AED [4.8 vs. 2.87, p < 0.001], complex partial seizures [51 vs. 35 OR 2.9, p = 0.002], having more than one seizure per month [51 vs. 38, p = 0.009], bi-temporal focus [14 vs. 4 p = 0.008] and mesial temporal sclerosis [23 vs. 11 p = 0.01]. Good response to first AED [7 vs. 29 OR 0.2, p = 0.001] and epilepsy secondary to encephalomalacia [8 vs. 20 OR 0.35, p = 0.018] might be protective factors against drug resistant epilepsy. CONCLUSIONS: Longer time of epilepsy evolution, high frequency of seizures, complex partial seizure presentation, higher number of antiepileptic drugs, mesial temporal sclerosis and bitemporal epilepsy are predictive factors of subsequent pharmacoresistance.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsias Parciais , Adulto , Anticonvulsivantes/uso terapêutico , Estudos de Casos e Controles , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Epilepsia Resistente a Medicamentos/patologia , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsias Parciais/tratamento farmacológico , Epilepsias Parciais/patologia , Epilepsias Parciais/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
13.
Epilepsia ; 60(12): 2477-2485, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31755095

RESUMO

OBJECTIVE: To evaluate the localization value and prognostic significance of subclinical seizures (SCSs) on scalp video-electroencephalography monitoring (VEEG) in comparison to clinical seizures (CSs) in patients who had epilepsy surgery. METHODS: We included 123 consecutive patients who had SCSs and CSs during scalp-VEEG evaluation. All patients had subsequent epilepsy surgery and at least 1-year follow-up. Concordance between SCSs and CSs was summarized into five categories: complete, partial, overlapping, no concordance, or indeterminate. Using the same scheme, we analyzed the relationship between resection and SCS/CS localizations. The concordance measures, along with demographic, electroclinical, and other presurgical evaluation data, were evaluated for their associations with postoperative seizure outcome. RESULTS: Sixty-nine patients (56.1%) had seizure-free outcome at 1-year follow-up. In 68 patients (55.3%), the localizations of SCSs and CSs were completely concordant. Multivariate logistic analysis showed that complete SCS/CS concordance was independently associated with seizure-free outcome at 1-year (P = .020) and 2-year follow-up (P = .040). In the temporal lobe epilepsy (TLE) seizure-free group, SCS localization was completely contained within the resection in 44.4% and CS localization was completely contained within the resection in 41.7%; in the extratemporal lobe epilepsy (ETLE) seizure-free group, SCS localization was completely contained within the resection in 54.5% and CS localization was completely contained within the resection in 57.6%. SIGNIFICANCE: Complete concordance between CS and SCS localization is a positive prognostic factor for 1-year and 2-year postoperative seizure-free outcome. Localization value of SCSs on scalp VEEG is similar to that of CSs for TLE and ETLE. Although SCSs cannot replace CSs, localization information from SCSs should not be ignored.


Assuntos
Eletroencefalografia/métodos , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/fisiopatologia , Cuidados Pré-Operatórios/métodos , Couro Cabeludo , Gravação em Vídeo/métodos , Adolescente , Adulto , Estudos de Coortes , Eletroencefalografia/instrumentação , Seguimentos , Humanos , Masculino , Cuidados Pré-Operatórios/instrumentação , Estudos Retrospectivos , Couro Cabeludo/fisiologia , Adulto Jovem
14.
Rinsho Shinkeigaku ; 59(10): 646-651, 2019 Oct 26.
Artigo em Japonês | MEDLINE | ID: mdl-31564703

RESUMO

We describe a 60-year-old woman with medically refractory left mesial temporal lobe epilepsy accompanied by Ross syndrome. The patient had a partial triad of Ross syndrome with hypohydrosis only on her right side (contralateral to the epileptic seizure focus), Adie's tonic pupil on the right, and areflexia while her seizures used to be medically refractory. However, her hypohidrosis and Adie's tonic pupil have completely changed in terms of laterality following nearly complete seizure freedom resutling from left temporal lobectomy. This unique change in laterality in Ross syndrome is most likely caused by remote effects of the near-absent epileptic acitivity, and it also may contribute to understanding the pathophysiological mechanism of Ross syndrome.


Assuntos
Epilepsia Resistente a Medicamentos/cirurgia , Epilepsias Parciais/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Lateralidade Funcional , Hipo-Hidrose/etiologia , Hipo-Hidrose/fisiopatologia , Procedimentos Neurocirúrgicos/métodos , Lobo Temporal/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Reflexo Anormal , Síndrome , Pupila Tônica/etiologia , Pupila Tônica/fisiopatologia
16.
Ann Neurol ; 86(5): 683-694, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31566799

RESUMO

OBJECTIVE: Drug-resistant focal epilepsy is widely recognized as a network disease in which epileptic seizure propagation is likely coordinated by different neuronal oscillations such as low-frequency activity (LFA), high-frequency activity (HFA), or low-to-high cross-frequency coupling. However, the mechanism by which different oscillatory networks constrain the propagation of focal seizures remains unclear. METHODS: We studied focal epilepsy patients with invasive electrocorticography (ECoG) recordings and compared multilayer directional network interactions between focal seizures either with or without secondary generalization. Within-frequency and cross-frequency directional connectivity were estimated by an adaptive directed transfer function and cross-frequency directionality, respectively. RESULTS: In the within-frequency epileptic network, we found that the seizure onset zone (SOZ) always sent stronger information flow to the surrounding regions, and secondary generalization was accompanied by weaker information flow in the LFA from the surrounding regions to SOZ. In the cross-frequency epileptic network, secondary generalization was associated with either decreased information flow from surrounding regions' HFA to SOZ's LFA or increased information flow from SOZ's LFA to surrounding regions' HFA. INTERPRETATION: Our results suggest that the secondary generalization of focal seizures is regulated by numerous within- and cross-frequency push-pull dynamics, potentially reflecting impaired excitation-inhibition interactions of the epileptic network. ANN NEUROL 2019;86:683-694.


Assuntos
Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsias Parciais/fisiopatologia , Convulsões/fisiopatologia , Adolescente , Adulto , Criança , Eletrocorticografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
17.
Zhonghua Er Ke Za Zhi ; 57(10): 780-785, 2019 Oct 02.
Artigo em Chinês | MEDLINE | ID: mdl-31594065

RESUMO

Objective: To summarize the clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation. Methods: The clinical data, gene variation and treatment outcome of 12 children with focal epilepsy caused by GATOR1 complex gene variation admitted to Beijing Children's Hospital Affiliated to Capital Medical University from June 2016 to October 2018 were retrospectively analyzed. Results: There were 7 males and 5 females in 12 cases. The epilepsy onset age was 5.5 (3.0, 12.0) months, and from 11 days to 16 months of age. The epileptic seizure types were all focal motor seizures, and one case combined with epileptic spasms. The frequency of seizures in all patients was more than one time per day. Seven cases had frontal lobe epilepsy and two cases had lateral temporal lobe epilepsy. One case had a family history of febrile seizures and two had a family history of suspicious epilepsy. Epileptic form discharges were observed in 9 patients during the interictal phase by electroencephalograms (EEG), and all of them were focal discharges. Eight cases had clinical seizures detected by EEG, in 4 of whom the seizures were originated in frontal region. There were no abnormalities in brain magnetic resonance imaging in 11 cases whereas 1 case had malformation of cortical development of left frontal lobe. Eight patients had DEPDC5 gene variation, one had NPRL2 gene variation, three had NPRL3 gene variation. One case had de novo variation and the other 11 had hereditary variation. There were 11 types of gene variation, including 5 nonsense variations, 3 missense variations, 2 frame shift variations and 1 in frame deletion variation. There was no clear relationship between the clinical phenotype and the genotype. During the follow-up period from 6 months to 2 years and 6 months, 6 cases had seizure control, 3 of them were controlled by oxcarbazepine. The other 6 cases had drug-refractory epilepsy, 2 of them failed with vagus nerve stimulation and ketogenic dietary therapy as well, meanwhile combined with mental retardation. Conclusions: GATOR1 complex gene variation can lead to genetic focal epilepsy, which usually has early onset with frequent seizures. Most of the patients have focal epileptic form discharges on EEG, and there is usually no structural lesion in brain imaging. Most of the patients have hereditary loss-of-function variations. Approximately half of cases are drug-resistant epilepsy.


Assuntos
Epilepsias Parciais/genética , Proteínas Ativadoras de GTPase/genética , Proteínas Repressoras/genética , Proteínas Supressoras de Tumor/genética , Grupo com Ancestrais do Continente Asiático/genética , Eletroencefalografia , Epilepsias Parciais/diagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Convulsões/complicações , Convulsões/genética
19.
Epilepsia ; 60(11): 2215-2223, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31637707

RESUMO

OBJECTIVE: To determine the incidence of clinically relevant arrhythmias in refractory focal epilepsy and to assess the potential of postictal arrhythmias as risk markers for sudden unexpected death in epilepsy (SUDEP). METHODS: We recruited people with refractory focal epilepsy without signs of ictal asystole and who had at least one focal seizure per month and implanted a loop recorder with 2-year follow-up. The devices automatically record arrhythmias. Subjects and caregivers were instructed to make additional peri-ictal recordings. Clinically relevant arrhythmias were defined as asystole ≥ 6 seconds; atrial fibrillation < 55 beats per minute (bpm), or > 200 bpm and duration > 30 seconds; persistent sinus bradycardia < 40 bpm while awake; and second- or third-degree atrioventricular block and ventricular tachycardia/fibrillation. We performed 12-lead electrocardiography (ECG) and tilt table testing to identify non-seizure-related causes of asystole. RESULTS: We included 49 people and accumulated 1060 months of monitoring. A total of 16 474 seizures were reported, of which 4679 were captured on ECG. No clinically relevant arrhythmias were identified. Three people had a total of 18 short-lasting (<6 seconds) periods of asystole, resulting in an incidence of 2.91 events per 1000 patient-months. None of these coincided with a reported seizure; one was explained by micturition syncope. Other non-clinically relevant arrhythmias included paroxysmal atrial fibrillation (n = 2), supraventricular tachycardia (n = 1), and sinus tachycardia with a right bundle branch block configuration (n = 1). SIGNIFICANCE: We found no clinically relevant arrhythmias in people with refractory focal epilepsy during long-term follow-up. The absence of postictal arrhythmias does not support the use of loop recorders in people at high SUDEP risk.


Assuntos
Epilepsia Resistente a Medicamentos/diagnóstico , Epilepsia Resistente a Medicamentos/fisiopatologia , Eletrocardiografia/tendências , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/fisiopatologia , Adulto , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/fisiopatologia , Epilepsia Resistente a Medicamentos/epidemiologia , Eletrocardiografia/métodos , Epilepsias Parciais/epidemiologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Morte Súbita Inesperada na Epilepsia/epidemiologia , Fatores de Tempo , Adulto Jovem
20.
Epileptic Disord ; 21(5): 463-465, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31638581

RESUMO

Self-stimulation is a normal part of development and a common behaviour in children before puberty, but very rare in adults. The stereotyped semiology can sometimes raise the suspicion of epilepsy. We present a 30-year-old patient who came to our epilepsy monitoring unit for differential diagnosis of nocturnal episodes, interpreted elsewhere as hypermotor status epilepticus associated with a known diagnosis of focal epilepsy and septo-optic dysplasia. The recorded events during video-EEG were consistent with psychogenic self-stimulating behaviour, which improved with psychotherapy. Disturbed sexual development with hypopituitarism and poor eyesight, androgen replacement therapy, alongside a protective environment provided by her parents, were the identified predisposing factors for this uncommon entity in an adult. [Published with video sequence].


Assuntos
Erros de Diagnóstico , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/fisiopatologia , Convulsões/diagnóstico , Estado Epiléptico/diagnóstico , Adulto , Diagnóstico Diferencial , Eletroencefalografia/métodos , Feminino , Humanos , Monitorização Fisiológica/métodos , Convulsões/fisiopatologia , Estado Epiléptico/fisiopatologia
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