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1.
Acta Neurochir Suppl ; 127: 21-25, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31407058

RESUMO

Epilepsy is a significant worldwide public health problem that leads to reduced quality of life and negative psychosocial consequences and significantly increases mortality rates in those who are affected. The development of epilepsy from subarachnoid hemorrhage (SAH) has an important negative impact on long-term survival, functional status, and cognitive recovery in patients following aneurysmal rupture. Anticonvulsant medication (AED) administration to prevent the development of epilepsy following SAH is controversial, and studies to date have not shown effectiveness of AED use as prophylaxis. This paper reviews the pathophysiology of SAH in the development of epilepsy, the scope of the problem of epilepsy related to SAH, and the studies that have evaluated AED administration as prophylaxis for seizures and epilepsy.


Assuntos
Epilepsia , Hemorragia Subaracnóidea , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Epilepsia/etiologia , Humanos , Qualidade de Vida , Convulsões , Hemorragia Subaracnóidea/complicações , Hemorragia Subaracnóidea/fisiopatologia
2.
BMJ ; 367: l5464, 2019 11 11.
Artigo em Inglês | MEDLINE | ID: mdl-31712247

RESUMO

The studyLyttle MD, Rainford NEA, Gamble C, et al. Levetiracetam versus phenytoin for second-line treatment of paediatric convulsive status epilepticus (EcLiPSE): a multicentre, open-label, randomised trial. Lancet 2019;393:2125-34.This trial was funded by the NIHR Health Technology Assessment Programme (project number 12/127/134).To read the full NIHR Signal, go to https://discover.dc.nihr.ac.uk/content/signal-000790/levetiracetam-vs-phenytoin-in-stopping-childrens-prolonged-epileptic-seizures.


Assuntos
Epilepsia , Estado Epiléptico , Criança , Humanos , Levetiracetam , Fenitoína , Convulsões
3.
Zhonghua Er Ke Za Zhi ; 57(11): 830-836, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665836

RESUMO

Objective: To summarize the clinical and genetic features of ß-propeller protein-associated neurodegeneration (BPAN). Methods: The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children's Hospital of Fudan University, Peking University First Hospital, Capital Institute of Pediatrics, Shengjing Hospital of China Medical University and Shanghai Children's Hospital from June 2016 to December 2018, and their clinical manifestations, electroencephalogram, neuroimaging and genetics were analyzed. Results: Seventeen cases (13 females, 4 males), aged 1.1-8.8 years, were included. The median age of seizure onset was 14.5 months, from 3 months to 24 months of age, manifested with epileptic spasm in 6 cases and focal seizures in 5 cases. Eight patients had only one seizure type and 8 patients had two or more seizure types. Nine patients had complete remission of seizures. All 16 patients with seizures had developmental delay before the seizure onset, of whom 13 patients had moderate to severe seizures. The brain magnetic resonance imaging (MRI) was abnormal in 13 patients, including cerebral atrophy (10 cases) and thinning of the corpus callosum (9 cases). The brain magnetic susceptibility weighted imaging (SWI) in preschool stage showed prominent T2 hypointense signals in bilateral globus pallidus and brainstem ventral in two cases. Five seizure types (spasm, focal, absence, myodonic and generalized tonic clonic seizures)were found on ictal electroencephalogram(EEG) recordings. Compared to female patients(17(6-24) months of ege), male cases had earlier seizure onset (3, 4, 5, 18 months of age) . All patients had de novo variations in WDR45(6 nonsense, 4 frameshift, 3 missense and 4 splicing variations), with hemizygous variants in 3 males, mosaic variants in a male and heterozygous variants in 13 females, within which 5 variations had not been reported (c.977-1C>T,c.976+1G>C,c.10C>T,c.806del and c.110T>C). Conclusions: The patients with BPAN have profound developmental delay and are vulnerable to seizures. The male patients with BPAN tend to have more severer clinical phenotype than females. Early brain SWI could facilitate the timely diagnosis of this disease.


Assuntos
Proteínas de Transporte/genética , Epilepsia/genética , Doenças Neurodegenerativas/genética , China , Eletroencefalografia , Epilepsia/diagnóstico , Feminino , Humanos , Lactente , Masculino , Doenças Neurodegenerativas/diagnóstico por imagem , Estudos Retrospectivos , Convulsões
4.
Zhonghua Er Ke Za Zhi ; 57(11): 844-851, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665838

RESUMO

Objective: To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy. Methods: Clinical data of 62 children who were clinically and genetically diagnosed with mitochondrial epilepsy by the Department of Neurology, Beijing Children's Hospital from October 2011 to December 2018 were analyzed retrospectively, and the control of epilepsy was followed up. T test or χ(2) test were used to analyze the related factors affecting the prognosis of epilepsy between the effective group and the ineffective group. Results: Of the 62 patients, 33 were male and 29 were female. The age of onset was 3.38 (0-12.00) years; for the type of seizures, 68% (42/62) of the patients had focal seizures, generalized or secondary generalized tonic-clonic seizures were seen in 32% (20/62), myoclonic seizures in 23% (14/62), spastic seizures in 7 cases, tonic seizures in 4 cases, absence seizure, atonic seizure and clonic seizure in 1 case each; 16 cases (26%) had status epilepticus, of whom 6 cases had epilepsia partialis continua; 52% (32/62) had 2 or more types of seizures. The clinical phenotypes were mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in 29 cases, Leigh syndrome (LS) in 11 cases, combined oxidative phosphorylation deficiency in 6 cases, myoclonus epilepsy with ragged-red fibers in 5 cases, Alpers syndrome in 4 cases, pontocerebellar hypoplasia type 6 and mitochondrial DNA depletion syndrome 9 in 2 cases each, mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. Of the 62 cases, 40 cases (65%) had mitochondrial DNA (mtDNA) variations, of which 26 cases had m.3243A>G variants, 6 cases had m.8344A>G variants, and 3 cases had m.8993T>G/C variants, m.3271T>C, m.3481G>A, m.3946G>A, m.13094T>C, m.14487T>C variant was in 1 case each; nuclear DNA (nDNA) variations were identified in 22 cases (35%), of which 7 cases carrying variations in mitochondrial ammonia acyl tRNA synthetase coding gene, mutations in POLG and the gene encoding complex Ⅰ were in 4 cases each, variations in SUCLG1 and SDHA genes were in 2 cases each, and variations in PDHA1, BTD and TRIT1 genes were in 1 case each. Forty-three patients were followed up, and the follow-up time was 20 (3-84) months. According to the follow-up results, the anti-epilepsy treatment was effective in 19 cases (44%) and ineffective in other 24 cases (56%). The onset age of the effective group was 3.42 (0-11.50) years and that of the ineffective group was 0.92 (0-9.50) years. The onset duration of the effective group was 0 (0-7.00) years and that of the ineffective group was 0 (0-4.83) years. There was no significant difference between the effective group and the ineffective group (t=1.662, 0.860; P=0.104, 0.395). In the effective group and the ineffective group, 12 cases and 9 cases used less than 2 kinds of antiepileptic drugs, 7 cases and 15 cases used more than or equal to 2 kinds of antiepileptic drugs, 13 and 15 cases had first epilepsy, 6 and 9 cases had non-first epilepsy, 14 and 11 cases had mtDNA variation, 5 and 13 cases had nDNA variation, respectively. There was no significant difference between the two groups (χ(2)=2.794, 0.164, 3.380; P=0.095, 0.686, 0.066). Conclusions: The types of seizures with mitochondrial epilepsy in children varied, with focal motor seizures being the most common, followed by generalized or secondary generalized tonic-clonic seizures. Most children have more than two types of seizures. MELAS is the most common clinical phenotype, followed by LS; mtDNA variation is the dominant gene variation, of which m.3243A>G variation is the most common hotspot variation, followed by gene variation encoding mitochondrial aminoacyl tRNA synthase.


Assuntos
Epilepsia/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Doenças Mitocondriais/diagnóstico por imagem , Anticonvulsivantes/uso terapêutico , Criança , Epilepsia/tratamento farmacológico , Epilepsia/genética , Feminino , Humanos , Masculino , Doenças Mitocondriais/genética , Fenótipo , Estudos Retrospectivos , Convulsões
5.
Zhonghua Er Ke Za Zhi ; 57(11): 857-862, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665840

RESUMO

Objective: To analyze the clinical characteristics of patients with PCDH19-female limited epilepsy (PCDH19-FE). Methods: The clinical data of 60 female epilepsy patients with PCDH19 gene heterozygous variations at the Department of Pediatrics, Peking University First Hospital from October 2007 to December 2018 were collected and analyzed retrospectively, their clinical manifestations, accessory examination and follow-up treatment were summarized. Results: Data of a total of 60 cases of PCDH19-FE were collected. The seizure onset occurred between 4 and 42 months of age (median: 11 months of age). Focal seizures occurred in 47 patients (78%), generalized tonic-clonic seizures (GTCS) occurred in 30 patients (50%), and other rare types of seizures included atypical absence, myoclonic, clonic, tonic, and atonic seizures. Two or more seizures types existed in 24 patients (40%), and seven patients (12%) had attacks of status epilepticus. Sensitivity to fever was observed in 47 out of them (78%) and clustering of seizures as found in all patients. During the interictal phase, focal discharges were monitored in 22 cases (22/45, 49%), multifocal discharges in 12 cases (12/45, 27%), widely discharging in 2 cases (4%), and both focal and widely discharging in 9 cases (20%). Clinical seizures were detected in 30 patients during the electroencephalogram (EEG) recording, including focal seizures in 22 cases, GTCS seizures in 8 cases, tonic seizure in three cases, myoclonic seizure followed by GTCS in one case, and two types of seizures in four cases. Before seizure onset, 57 patients had normal development and three patients had delayed language development. After seizure onset, varied degrees of intelligence disability were present in 38 cases (63%), language delay in 36 cases (60%), and gait instability in 10 cases (17%). Autistic features occurred in 17 cases (28%); and other behavioral problems like learning difficulties, personality, or emotional disorders existed in 33 cases (55%). Age at last follow-up ranged from one year and 3 months to 22 years and 3 months of age, 17 patients (28%) were seizure-free for more than 2 years (5 to 22 years at the last follow-up). The efficiency of antiepileptic drugs were 65% (33/51) in sodium valproate, 63% (27/43) in levetiracetam and 59% (20/34) in topiramate. Conclusions: The clinical features of PCDH19-FE are characterized by clustering of seizures, focal seizures in most cases, sensitivity to fever mostly, focal discharges principally in EEG, varied degrees of intellectual disability or movement disorder, combined with autism spectrum disorders in partial and high efficiency in sodium valproate or levetiracetam treatment.


Assuntos
Caderinas/genética , Epilepsias Mioclônicas/genética , Epilepsia/genética , Convulsões/genética , Adolescente , Transtorno do Espectro Autista , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/fisiopatologia , Feminino , Humanos , Lactente , Mutação , Estudos Retrospectivos , Convulsões/fisiopatologia , Adulto Jovem
6.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 44(8): 885-891, 2019 Aug 28.
Artigo em Chinês | MEDLINE | ID: mdl-31570675

RESUMO

OBJECTIVE: To evaluate the impact of admission diagnosis on seizure outcome in patients with autoimmune epilepsy (AE).
 Methods: We conducted a retrospective study on 40 AE patients at Department of Neurology, Xiangya Hospital, Central South University from Jan. 1st, 2017 to Nov. 21st, 2018. According to their admission diagnosis, these patients were further assigned into 2 groups: An AE diagnosed group and an AE undiagnosed group. Demographic data, clinical characteristics, cerebrospinal fluid (CSF), electroencephalogram, and brain imaging were compared between the 2 groups. Favorable seizure outcome was defined as >50% reduction of seizure frequency at the first follow-up. The impact of admission diagnosis on seizure outcome of AE patients was analyzed.
 Results: The ages of 40 AE patients were (33.23±16.41) years, comprising 19 males and 21 females. No significant difference was found between the AE diagnosed group and the AE undiagnosed group in gender, age, central nervous system-specific Ab profile, CSF, and brain imaging. Duration of symptom onset to Ab detection was significantly longer in the AE undiagnosed group than that in the AE diagnosed group (P<0.01). Duration of symptom onset to immunotherapy was also significantly longer in the AE undiagnosed group than that in the AE diagnosed group (P<0.001). There were more patients with favorable seizure outcome in the AE diagnosed group than the AE undiagnosed group (P<0.05).
 Conclusion: Admission diagnosis for patients with AE is associated with seizure outcome after immunotherapy. For adult-onset epilepsy or epilepsy with unknown etiology, the diagnosis of AE should be considered. Early diagnosis of AE and prompt initiation of immunosuppressive treatment are crucial to increase the likelihood of achieving favorable seizure outcome.


Assuntos
Epilepsia , Adolescente , Adulto , Eletroencefalografia , Feminino , Humanos , Imunoterapia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Convulsões , Adulto Jovem
8.
Ideggyogy Sz ; 72(9-10): 304-314, 2019 Sep 30.
Artigo em Húngaro | MEDLINE | ID: mdl-31625697

RESUMO

Aims - Overview of the new data about the strong link of sleep and epilepsy and conjoining cognitive impairment. Methods - Search for relevant references and summary of our own research activity on the topic. Results - Strong interrealtionship exists between epilepsy and plastic brain functions (memory processing and synaptic homeostasis) and the working modes of NREM sleep. In the most frequent childhood and adult epilepsy networks responsible for plastic functions can be derailed to an epileptic level of excitability, and suffer a transitory or permanent epileptic transformation. Exampling on the three big epilepsies: absence epilepsy; medial temporal lobe epilepsy; and childhood idiopathic focal age dependent epilepsy spectrum we demonstrate the most important features of this epileptic transformation. The association of cognitive impairment to certain sleep dependent epilepsies gains explanation by the epilepsy caused interference with slow wave decline (ICFE) and memory consolidation (MTLE) during NREM sleep. This paper serves also to introduce the concept of sleep dependent system epilepsies. Conclusions - We provide evidences about shared mechanisms among sleep related epilepsies being the derailment of sleep plastic funcions toward exaggerated excitability determined by the inherent possibilities of the signal transduction properties.


Assuntos
Disfunção Cognitiva/fisiopatologia , Epilepsias Parciais/fisiopatologia , Epilepsia/fisiopatologia , Sono/fisiologia , Adulto , Criança , Eletroencefalografia , Humanos , Plásticos , Fases do Sono/fisiologia
9.
West Afr J Med ; 36(3): 211-216, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31622482

RESUMO

BACKGROUND: Antiepileptic drugs are necessary for successful treatment of epilepsy. Unfortunately, epilepsy itself and some antiepileptic drugs have been documented to provoke or worsen seizure frequency by altering blood levels of some oxidants and antioxidants in persons with epilepsy. OBJECTIVE: This study investigated the effect of epilepsy and antiepileptic drugs on blood levels of some oxidants and antioxidants. METHODOLOGY: This was a cross-sectional case-control study. Blood samples were obtained from 35 antiepileptic drug-experienced persons with epilepsy; 35 antiepileptic-naive persons with epilepsy; and 35 age- and- sex matched apparently healthy controls; and analysed for malondialdehyde and antioxidants (uric acid, superoxide dismutase, glutathione peroxidase and catalase) using enzyme-linked immunosorbent assay. RESULTS: One-hundred and five (105) subjects (35 patients on antiepileptic drugs, 35 newly diagnosed, antiepileptic drug-naive and 35 healthy controls) were investigated. The median ages of antiepileptic drug-experienced, antiepileptic drug-naive and healthy participants were 30.0, 26.0 and 37.0 years respectively. Persons with epilepsy had significantly higher blood levels of malondialdehyde and uric acid and lower levels of enzymatic antioxidants than healthy controls. Also, persons with epilepsy on antiepileptic drug polytherapy had signi-ficantly higher blood levels of malondialdehyde and uric acid and lower levels of enzymatic antioxidants than antiepileptic drug-naive persons with epilepsy and persons with epilepsy on antiepileptic drug monotherapy respectively. CONCLUSION: Epilepsy and antiepileptic drug significantly altered blood levels of malondialdehyde, uric acid and enzymatic antioxidants and/or their homeostatic kinetics.


Assuntos
Anticonvulsivantes/uso terapêutico , Antioxidantes/metabolismo , Epilepsia/sangue , Epilepsia/tratamento farmacológico , Eritrócitos/metabolismo , Malondialdeído/sangue , Adulto , Antioxidantes/análise , Estudos de Casos e Controles , Estudos Transversais , Humanos
10.
Medicine (Baltimore) ; 98(40): e17401, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31577750

RESUMO

BACKGROUND: Epileptiform discharges in electroencephalogram (EEG) have been frequently reported in children undergoing sevoflurane mask induction. However, the incidence, characteristics and risk factors of these epileptiform patterns during sevoflurane anesthesia in children are poorly understood. The aim of this study is to systematically review the epileptic potential of sevoflurane in children with the EEG monitoring. METHODS: PubMed, EMBASE, Cochrane library (Central) will be systematically searched from inception to December 2018. The effect of sevoflurane on epileptic EEG patters in children will be studied. The primary outcome will be the incidence of epileptic discharges, the characteristics and risk factors of these epileptic discharges. Meta-analysis will be calculated using R software 3.5.1. RESULTS: This study will offer new evidence of the incidence, characteristics and risk factors of EEG epileptic discharges during sevoflurane anesthesia. CONCLUSION: The conclusion drawn from this systematic review will benefit the children with or without epilepsy undergoing sevoflurane anesthesia. ETHICS AND DISSEMINATION: Ethics approval is unnecessary because data of individual patients will not be included and no privacy will be involved. The results of this review will be published in a peer-reviewed journal or a conference report. Amendments of the basic protocol will be documented in the comprehensive review. PROSPERO REGISTRATION NUMBER: PROSPERO CRD 42019122008.


Assuntos
Anestésicos Inalatórios/efeitos adversos , Eletroencefalografia , Epilepsia/induzido quimicamente , Sevoflurano/efeitos adversos , Adolescente , Criança , Pré-Escolar , Humanos , Incidência , Lactente , Projetos de Pesquisa , Fatores de Risco
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 1019-1021, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598950

RESUMO

OBJECTIVE: To identify pathogenic mutation of TSC1 and TSC2 genes in a patient with long-time misdiagnosis of epilepsy. METHODS: Peripheral blood samples and clinical data of the patient and her 2 parents were collected. Potential mutation of TSC1 and TSC2 genes were detected by direct sequencing. RESULTS: The patient had frequent episodes of epilepsy in addition with Shagreen patches for 10 years. A frame-shifting mutation c.2509_2512delAACA was detected in exon 20 of the TSC1 gene. This same mutation was not found in her unaffected parents. CONCLUSION: The recurrent frame-shifting mutation c.2509_2512delAACA (p.Asn837ValfsX11) of the TSC1 gene probably underlies the disease in this patient.


Assuntos
Epilepsia/diagnóstico , Epilepsia/genética , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Erros de Diagnóstico , Feminino , Mutação da Fase de Leitura , Humanos , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética
12.
Medicina (B Aires) ; 79 Suppl 3: 6-9, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603835

RESUMO

The objective was to describe the frequency, mode of presentation and characteristics of epilepsy in children with congenital hemiparesis (CH). It is a etrospective, descriptive and multicenter study, based on the collection of data from the clinical records of patients from 0 to 19 years with CH secondary to perinatal infarction in different centers of the community of Catalonia. A total of 310 children were included (55% males and 45% females), from a total of 13 centers in Catalonia. Average age of onset of the crises was 2 ± 1 year. Epilepsy was present in 29.5% (n = 76), among which the most frequent vascular subtype was arterial presumed perinatal ischemic stroke (51.3%), followed by neonatal arterial ischemic stroke (18.4%), periventricular venous infarction (15.8%), neonatal hemorrhagic stroke (10.5%) and neonatal cerebral sinovenous thrombosis (3.9%). Semiology of the most frequent seizures was motor focal in 82%, followed by focal motor with secondary bilateralization in 23%, focal discognitive in 13.5%, generalized by 2% and spasms in 6.5%. The 67.3% were controlled with monotherapy and the drugs used were valproate, levetiracetam or carbamazepine. The antecedent of electrical status during sleep was identified in 3 patients, all associated with extensive lesions that included the thalamus. Of the total number of children with epilepsy, 35% began with neonatal seizu res in the first 3 days of life. The 30% of children with perinatal stroke and CH present a risk of epilepsy during childhood. Children with ischemic strock have the highest risk, so they will require a follow-up aimed at detecting prematurely the epilepsy and start a treatment.


Assuntos
Epilepsia/etiologia , Paresia/congênito , Paresia/etiologia , Acidente Vascular Cerebral/complicações , Adolescente , Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Criança , Pré-Escolar , Epilepsia/tratamento farmacológico , Feminino , Humanos , Lactente , Recém-Nascido , Levetiracetam/uso terapêutico , Masculino , Estudos Retrospectivos , Fatores de Risco , Convulsões/etiologia , Espanha , Ácido Valproico/uso terapêutico , Adulto Jovem
13.
Medicina (B Aires) ; 79 Suppl 3: 20-24, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603838

RESUMO

Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.


Assuntos
Epilepsia/etiologia , Doenças Metabólicas/complicações , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/terapia , Humanos , Recém-Nascido , Convulsões/classificação , Convulsões/etiologia , Convulsões/terapia
14.
Medicina (B Aires) ; 79 Suppl 3: 37-41, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603842

RESUMO

Around 15% of childhood epilepsies are resistant to antiepileptic drugs, 40% of which are caused by malformations of cortical development (MCD). The current classification scheme for MCD is based on the primary developmental steps of cell proliferation, neuronal migration, and cortical organization. Considering the clinic and molecular alterations, a classification based on main pathways disruption and imaging phenotype has been proposed. MCD were divided into four groups: megalencephaly and focal cerebral dysplasia; tubulinopathies and lissencephalies; polymicrogyria syndromes and heterotopia syndromes. More than 100 genes have been reported to be associated with different types of MCD. Genetic and biological mechanisms include different stages of cell cycle regulation - especially cell division -, apoptosis, cell-fate specification, cytoskeletal structure and function, neuronal migration, and basement-membrane function. The associated epileptic syndromes are varied ranging from early-onset epileptic encephalopathies to focal epilepsies. As MCD are common causes of refractory epilepsy, a prompt diagnosis and the development of different therapeutic options in order to improve the outcome of the patients are essential.


Assuntos
Epilepsia/etiologia , Malformações do Desenvolvimento Cortical/complicações , Criança , Pré-Escolar , Eletroencefalografia , Humanos , Imagem por Ressonância Magnética , Masculino , Malformações do Desenvolvimento Cortical/classificação , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/genética
15.
Medicina (B Aires) ; 79 Suppl 3: 48-53, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603844

RESUMO

Antiepileptic drugs are the first treatment option in patients with epilepsy. Drugs developed after 2000 are known as third generation antiepileptic drugs. These medications offer new mechanisms of action and favorable pharmacokinetics, decreasing the occurrence of side effects and drug-drug interactions. Broad spectrum antiepileptic drugs, such as brivaracetam and clobazam are good choices for generalized tonic colonic seizures and are well tolerated.New sodium channel blockers such as lacosamide and eslicarbazepine, have a more "benign" side effect profile than the first or second generation of sodium channel blockers. These new drugs are useful therapies in patients with epilepsy of difficult control. Cannabidiol and fenfluramine are useful in the treatment of Dravet or Lennox Gastaut syndrome. Allopregnenolona and ganaxolone showed good efficacy in status epilepticus and could play an important future role in this clinical scenario.


Assuntos
Anticonvulsivantes/farmacologia , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Anticonvulsivantes/classificação , Interações de Medicamentos , Humanos , Estado Epiléptico/tratamento farmacológico
16.
Zhonghua Yi Xue Za Zhi ; 99(33): 2615-2618, 2019 Sep 03.
Artigo em Chinês | MEDLINE | ID: mdl-31510723

RESUMO

Objective: To explore the clinical features and genetic causes of autism spectrum disorder (ASD) patients with epilepsy. Methods: The clinical data of five patients with ASD and epilepsy admitted to Xuanwu Hospital between September 2017 and September 2018 were collected, including medical history, intelligence level, developmental level, physical examination, neuroimaging and electroencephalogram. High-throughput whole-genome sequencing was applied to five patients and their parents. Results: Of five patients, four were male and one was female. All five patients had mild mental retardation, and one patient had significant growth retardation and craniofacial deformity. The average epilepsy onset age was 6.3 years old (7 months to 16 years). The main epileptic type was tonic-clonic seizure with abnormal EEG results. All patients have a favorable response to anti-epileptic drugs. Whole-exome sequencing (WES) revealed copy number variation in all 5 patients. Among them, 3 cases were reported to be pathogenic, and 2 cases were not reported (chromosome 16p13.3 duplication and chromosome 21q22.3 deletion). Conclusions: The results of current study support that autism spectrum disorders with seizures is often associated with copy number variations, such as Williams-Beuren region duplication syndrome, chromosome 15q11.2 duplication syndrome and chromosome 15q11.2 deletion syndrome. We reported two novel copy number variations (chromosome 16p13.3 duplication and chromosome 21q22.3 deletion) in two autism spectrum disorder patients with epileptic seizures.


Assuntos
Transtorno do Espectro Autista , Epilepsia , Adolescente , Transtorno do Espectro Autista/complicações , Criança , Pré-Escolar , Aberrações Cromossômicas , Cromossomos Humanos , Variações do Número de Cópias de DNA , Epilepsia/complicações , Feminino , Humanos , Lactente , Masculino , Convulsões
17.
Herzschrittmacherther Elektrophysiol ; 30(3): 274-286, 2019 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-31489492

RESUMO

Sudden unexpected death in epilepsy (SUDEP) is one of the most frequent epilepsy-related causes of death. The incidence of SUDEP is estimated to be approximately 1.2/1000 person-years (PY); however, it varies considerably depending on disease-specific and demographic factors. The estimated incidence of SUDEP in children seems to be significantly lower (0.22/1000 PY) than in adults but recent studies in children (>12 years) indicated a similar incidence to that of adults. Based on these estimations, approximately 700 SUDEP cases would be expected in Germany annually but no reliable data or epidemiological studies on SUDEP are available. Various risk factors and predictors for SUDEP have been investigated, e.g. age, seizure frequency, number of antiepileptic drugs, non-compliance and comorbidities, with sometimes contradictory results. This is understandable given that the exact mechanisms of SUDEP are unclear; however, it is very likely that the frequency of (nocturnal) generalized tonic-clonic seizures is the most important risk factor. Nocturnal monitoring of seizures (using devices) or the presence of another person at night may represent important factors to reduce the risk of SUDEP. Thus, seizure control and seizure monitoring are, according to current knowledge, the most important factors to avoid SUDEP. Some recent studies have contributed to a better understanding of possible pathomechanisms of SUDEP; however, further research is needed to identify predictive clinical factors and biomarkers and in particular to prevent SUDEP.


Assuntos
Morte Súbita , Epilepsia , Anticonvulsivantes , Criança , Alemanha , Humanos , Fatores de Risco
18.
Artigo em Alemão | MEDLINE | ID: mdl-31529181

RESUMO

Trends of frequent chronic diseases and health problems, e.g. allergic diseases, have already been published based on the KiGGS Wave 2 study as part of the health monitoring of children and adolescents in Germany. The present work complements these findings with results on less frequent noncommunicable diseases and the trend of communicable, vaccine-preventable diseases.Information from parents about diagnoses and diseases of their 0­ to 17-year-old children from the representative cross-sectional survey KiGGS Wave 2 (2014-2017) are compared with those from the KiGGS baseline survey (2003-2006) and KiGGS Wave 1 (2009-2012).The current KiGGS results show almost unchanged prevalences for the noncommunicable diseases epilepsy, migraine, and heart disease. However, the data from KiGGS Wave 2 are supportive of an increased prevalence of diabetes mellitus, which nevertheless continues to be relatively rare and predominantly type 1 diabetes in children and adolescents.The decline in measles, chicken pox, and whooping cough diseases related to changes in vaccination recommendations shows that preventive measures can effectively benefit children and adolescents.However, the data on vaccine-preventable diseases indicate regionally varying immunity gaps in certain age groups, so the prevention potential of the vaccination recommendations of the Standing Vaccination Commission (STIKO) at the Robert Koch Institute does not seem to have been sufficiently exploited.


Assuntos
Saúde do Adolescente/estatística & dados numéricos , Doença Crônica/epidemiologia , Viroses/epidemiologia , Adolescente , Varicela/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Epilepsia/epidemiologia , Alemanha/epidemiologia , Inquéritos Epidemiológicos , Cardiopatias/epidemiologia , Humanos , Lactente , Recém-Nascido , Sarampo/epidemiologia , Transtornos de Enxaqueca/epidemiologia , Convulsões Febris/epidemiologia , Coqueluche/epidemiologia
19.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 41(4): 566-571, 2019 Aug 30.
Artigo em Chinês | MEDLINE | ID: mdl-31484623

RESUMO

Epilepsy has high incidence and complex etiologies,and its treatment remains challenging.For around 70% of people with epilepsy,seizures can be controlled after proper antiepileptic treatment.The availability of some new antiepileptic drugs in recent years has offered new options for epileptic patients.A solid knowledge on the pharmacokinetics,efficacy,and tolerability profiles of these new antiepileptic drugs will help to provide safe,proper,reasonable,and standardized treatment for patients.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Humanos , Convulsões/tratamento farmacológico
20.
J Assoc Physicians India ; 67(7): 11-12, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31559780

RESUMO

Context: Subependymal nodular heterotopia is a cortical development malformation that is commonly associated with refractory epilepsy. Patients with heterotopia show a wide spectrum of clinical manifestations, from being asymptomatic to presenting with intractable seizures and intellectual impairment. Case Report: We report a case of refractory epilepsy with normal intelligence, having bilateral subependymal heterotopic nodules in brain, presenting to us with a movement disorder in the form of myoclonus of bilateral lower limbs which is an unusual manifestation of gray matter heterotopias. Conclusion: Though rare, gray matter heterotopias may present as movement disorder and should be considered in differential diagnosis while work up of movement disorders.


Assuntos
Coristoma , Epilepsia , Transtornos dos Movimentos , Encéfalo , Humanos , Imagem por Ressonância Magnética
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