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1.
Epilepsia ; 60(6): 1032-1039, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30924146

RESUMO

This article critiques the International League Against Epilepsy (ILAE) 2015-2017 classifications of epilepsy, epileptic seizures, and status epilepticus. It points out the following shortcomings of the ILAE classifications: (1) they mix semiological terms with epileptogenic zone terminology; (2) simple and widely accepted terminology has been replaced by complex terminology containing less information; (3) seizure evolution cannot be described in any detail; (4) in the four-level epilepsy classification, level two (epilepsy category) overlaps almost 100% with diagnostic level one (seizure type); and (5) the design of different classifications with distinct frameworks for newborns, adults, and patients in status epilepticus is confusing. The authors stress the importance of validating the new ILAE classifications and feel that the decision of Epilepsia to accept only manuscripts that use the ILAE classifications is premature and regrettable.

2.
Epileptic Disord ; 21(1): 1-29, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30782582

RESUMO

This educational review describes the classification of paroxysmal events and a four-dimensional epilepsy classification system. Paroxysmal events are classified as epileptic and non-epileptic paroxysmal events. Non-epileptic events are, in turn, classified as psychogenic and organic paroxysmal events. The following four dimensions are used to classify epileptic paroxysmal events: ictal semiology, the epileptogenic zone, etiology, and comorbidities. Efforts are made to keep these four dimensions as independent as possible. The review also includes 12 educational vignettes and three more detailed case reports classified using the 2017 classification of the ILAE and the four-dimensional epilepsy classification. In addition, a case is described which is classified using the four-dimensional epilepsy classification with different degrees of precision by an emergency department physician, a neurologist, and an epileptologist. [Published with video sequences on www.epilepticdisorders.com].


Assuntos
Epilepsia/classificação , Epilepsia/etiologia , Epilepsia/fisiopatologia , Humanos
3.
Neurology ; 92(11): e1238-e1249, 2019 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-30737342

RESUMO

OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. RESULTS: We describe 17 new variants in STX1B, which are distributed across the whole gene. We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6 sporadic patients or families (31 affected individuals) with febrile and afebrile seizures with a benign course, generally good drug response, normal development, and without permanent neurologic deficits; (2) 2 patients with genetic generalized epilepsy without febrile seizures and cognitive deficits; (3) 13 patients or families with intractable seizures, developmental regression after seizure onset and additional neuropsychiatric symptoms; (4) 2 patients with focal epilepsy. More often, we found loss-of-function mutations in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. CONCLUSION: These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies that span the International League Against Epilepsy classification. Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies.

4.
Epilepsy Behav Case Rep ; 9: 19-21, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29692964

RESUMO

•Recurrent catamenial status epilepticus may occur in generalized and focal epilepsy.•Documenting the menstrual cycles and perimenstrual video-EEG help the diagnosis.•Hormonal treatment including menstrual suppressive therapies may be used.

6.
Epilepsia Open ; 2(4): 467-471, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29588977

RESUMO

Epilepsy and psychogenic nonepileptic seizures (PNES) can coexist and may present in two forms: sequential and simultaneous. In sequential presentations, epileptic seizures (ES) are treated and PNES emerge later. Simultaneous recording of ES and PNES by video-electroencephalogram (vEEG) is less well described. We retrospectively reviewed all patients diagnosed with PNES by vEEG following standard seizure induction practices over a 21-month period. Within this cohort, we established the prevalence of coexisting epilepsy using clinical and electrographic data acquired from our epilepsy-specific patient record. We identified patients with simultaneous PNES and ES recorded during a single vEEG admission, establishing the frequency and emergent timing of each type. Of our 262 monitored patients, 59 were diagnosed with PNES. Nineteen of the patients with PNES had coexisting epilepsy (prevalence rate of 7.3% or 32% of those with PNES). Sixteen patients had PNES and ES recorded during the same admission, and the remaining three patients had sequential PNES following successful treatment of ES. PNES occurred earlier (mean, within 1.21 days), with ES occurring later (mean, within 4.86 days). The simultaneous occurrence of PNES and ES recorded during a single admission is more common than previously reported. Identifying this group of patients may require a significantly longer period of vEEG monitoring and a detailed analysis of each individual's historical seizure events.

7.
Epilepsia ; 54(11): 1898-904, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24116958

RESUMO

PURPOSE: Lennox-Gastaut syndrome (LGS) is a devastating childhood-onset epilepsy syndrome. The cause is unknown in 25% of cases. Little has been described about the specific clinical or electroencephalography (EEG) features of LGS of unknown or genetic cause (LGS(u)). The Epilepsy Phenome/Genome Project (EPGP) aims to characterize LGS(u) by phenotypic analysis of patients with LGS(u) and their parents. METHODS: One hundred thirty-five patients with LGS with no known etiology and their parents were enrolled from 19 EPGP centers in the United States and Australia. Clinical data from medical records, standardized questionnaires, imaging, and EEG were collected with use of online informatics systems developed for EPGP. KEY FINDINGS: LGS(u) in the EPGP cohort had a broad range of onset of epilepsy from 1 to 13 years, was male predominant (p < 0.0002), and was associated with normal development prior to seizure onset in 59.2% of patients. Despite the diagnosis, almost half of the adult patients with LGS(u) completed secondary school. Parents were cognitively normal. All subjects had EEG recordings with generalized epileptiform abnormalities with a spike wave frequency range of 1-5 Hz (median 2 Hz), whereas 8.1% of subjects had EEG studies with a normal posterior dominant rhythm. Almost 12% of patients evolved from West syndrome. SIGNIFICANCE: LGS(u) has distinctive characteristics including a broad age range of onset, male predominance, and often normal development prior to the onset of seizures. Cognitive achievements such as completion of secondary school were possible in half of adult patients. Our phenotypic description of LGS(u) coupled with future genetic studies will advance our understanding of this epilepsy syndrome.


Assuntos
Deficiência Intelectual/genética , Espasmos Infantis/genética , Adolescente , Adulto , Idade de Início , Austrália , Criança , Pré-Escolar , Eletroencefalografia/métodos , Feminino , Genoma Humano , Genótipo , Humanos , Deficiência Intelectual/fisiopatologia , Síndrome de Lennox Gastaut , Masculino , Pessoa de Meia-Idade , Pais , Fenótipo , Espasmos Infantis/fisiopatologia , Síndrome , Estados Unidos , Adulto Jovem
8.
Handb Clin Neurol ; 107: 277-95, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22938977

RESUMO

Treatment for PNES must be individualized. A combination of approaches is probably the most beneficial for improvement. Treatment should not simply emphasize removing maladaptive PNES behaviour, but should also focus on learning new coping skills and removing secondary gains. If PNES persist, therapy should be re-evaluated.


Assuntos
Transtorno Conversivo/complicações , Transtorno Conversivo/psicologia , Transtornos Psicofisiológicos/complicações , Transtornos Psicofisiológicos/psicologia , Convulsões/complicações , Convulsões/psicologia , Transtorno Conversivo/diagnóstico , Transtorno Conversivo/terapia , Humanos , Transtornos Psicofisiológicos/diagnóstico , Transtornos Psicofisiológicos/terapia , Convulsões/diagnóstico , Convulsões/terapia
13.
Brain ; 130(Pt 2): 574-84, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17209228

RESUMO

Frontal lobe epilepsy (FLE) surgery is the second most common surgery performed to treat pharmacoresistant epilepsy. Yet, little is known about long-term seizure outcome following frontal lobectomy. The aim of this study is to investigate the trends in longitudinal outcome and identify potential prognostic indicators in a cohort of FLE patients investigated using modern diagnostic techniques. We reviewed 70 patients who underwent a frontal lobectomy between 1995 and 2003 (mean follow-up 4.1 +/- 3 years). Data were analysed using survival analysis and multivariate regression with Cox proportional hazard models. A favourable outcome was defined as complete seizure-freedom, allowing for auras and seizures restricted to the first post-operative week. The estimated probability of complete seizure-freedom was 55.7% [95% confidence interval (CI) = 50-62] at 1 post-operative year, 45.1% (95% CI = 39-51) at 3 years, and 30.1% (95% CI = 21-39) at 5 years. Eighty per cent of seizure recurrences occurred within the first 6 post-operative months. Late remissions and relapses occurred, but were rare. After multivariate analysis, the following variables retained their significance as independent predictors of seizure recurrence: MRI-negative malformation of cortical development as disease aetiology [risk ratio (RR) = 2.22, 95% CI = 1.40-3.47], any extrafrontal MRI abnormality (RR = 1.75, 95% CI = 1.12-2.69), generalized/non-localized ictal EEG patterns (RR = 1.83, 95% CI = 1.15-2.87), occurrence of acute post-operative seizures (RR = 2.17, 95% CI = 1.50-3.14) and incomplete surgical resection (RR = 2.56, 95% CI = 1.66-4.05) (log likelihood-ratio test P-value < 0.0001). More than half of patients in favourable prognostic categories were seizure-free at 3 years, and up to 40% were seizure-free at 5 years, compared to <15% in those with unfavourable outcome predictors. These data underscore the importance of appropriate selection of potential surgical candidates.


Assuntos
Epilepsia do Lobo Frontal/cirurgia , Lobo Frontal/cirurgia , Adolescente , Adulto , Criança , Pré-Escolar , Eletroencefalografia , Métodos Epidemiológicos , Epilepsia do Lobo Frontal/diagnóstico , Epilepsia do Lobo Frontal/fisiopatologia , Feminino , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Tomografia por Emissão de Pósitrons , Prognóstico , Recidiva , Resultado do Tratamento
14.
Rev Neurol Dis ; 4(4): 194-202, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-18195671

RESUMO

Drug-resistant epilepsy is a prevalent problem despite the multiple antiepileptic drug (AED) options available. Despite variations in the definition of drug resistance, clinicians can identify risk factors for AED resistance. Drug-resistant partial epilepsy should be referred early to an epilepsy surgery center. Mimics of drug-resistant epilepsy abound and cause diagnostic confusion. Rapid advances in epilepsy research and pharmacogenomics are providing new insight into the mechanisms of drug resistance and tolerance. Rational AED strategies and promising interventions to treat or prevent drug resistance will reduce the impact on the patient.


Assuntos
Anticonvulsivantes/uso terapêutico , Resistência a Medicamentos , Tolerância a Medicamentos , Epilepsia/tratamento farmacológico , Relação Dose-Resposta a Droga , Quimioterapia Combinada , Humanos
16.
J Neuroimaging ; 16(3): 185-96, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16808819

RESUMO

Focal cortical dysplasia (FCD) is a common cause of pharmacoresistant epilepsy that is amenable to surgical resective treatment. The identification of structural FCD by magnetic resonance imaging (MRI) can contribute to the detection of the epileptogenic zone and improve the outcome of epilepsy surgery. MR epilepsy protocols that include specific T1 and T2 weighted, and fluid-attenuated inversion recovery (FLAIR) sequences give complementary information about the characteristic imaging features of FCD; focal cortical thickening, blurring of the gray-white junction, high FLAIR signal, and gyral anatomical abnormalities. Novel imaging techniques such as magnetic resonance spectroscopy (MRS), magnetization transfer imaging (MTI), and diffusion tensor imaging (DTI) can improve the sensitivity of MR to localize the anatomical lesion. Functional/metabolic techniques such as positron emission tomography (PET), ictal subtraction single photon emission computed tomography (SPECT), functional MRI (fMRI), and magnetic source imaging (MSI) have the potential to visualize the metabolic, vascular, and epileptogenic properties of the FCD lesion, respectively. Identification of eloquent areas of cortex, to assist in the surgical resection plan, can be obtained non-invasively through the use of fMRI and MSI. Although a significant number of FCD lesions remain unidentified using current neuroimaging techniques, future advances should result in the identification of an increasing number of these cortical malformations.


Assuntos
Córtex Cerebral/patologia , Epilepsia/patologia , Humanos , Imagem por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Tomografia Computadorizada de Emissão , Tomografia Computadorizada de Emissão de Fóton Único
17.
Epilepsy Res ; 67(1-2): 25-33, 2005 Oct-Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16181772

RESUMO

INTRODUCTION: Focal cortical dysplasia (CD) is a common cause of pharmaco-resistant epilepsy. CD is due to abnormalities in neuronal migration, proliferation, and/or differentiation that result in four distinct pathological subtypes: 1A, 1B, 2A, and 2B. In order to provide clinical correlation to these pathological subtypes, we reviewed the electro-clinical and imaging characteristics and surgical outcomes of the four pathological subtypes of CD. METHODS: We retrospectively reviewed patient data from epilepsy surgeries at the Cleveland Clinic Foundation between 1990 and 2002. Only those patients with the definite pathological diagnosis of isolated cortical dysplasia were included in the study (n = 145). RESULTS: Pathological subtypes 2A and 2B were predominantly frontal in location, and had a more severe epilepsy syndrome with lower intelligence quotient scores than subtypes 1A and 1B. Patients with subtype 1A FCD had less severe, later onset epilepsy that was predominantly located in the temporal lobe. Risk factors for epilepsy included febrile seizures for type 1A, head trauma for types 1A and 1B, and perinatal adverse events for type 2B. Type 2B demonstrated significantly more FLAIR signal abnormalities than the other groups. Sixty-three percent of patients overall had an Engel I outcome at 6 months follow-up. The best outcomes were in the 2B subtype, and in those who did not require an invasive EEG evaluation. CONCLUSIONS: Clinically important differences exist between the pathological subtypes of CD, which may assist in their management, and provide further insight into their underlying pathophysiology.


Assuntos
Córtex Cerebral/anormalidades , Córtex Cerebral/patologia , Eletroencefalografia , Epilepsia/patologia , Imagem por Ressonância Magnética , Adolescente , Adulto , Criança , Pré-Escolar , Epilepsia/cirurgia , Seguimentos , Humanos , Estudos Retrospectivos , Índice de Gravidade de Doença , Resultado do Tratamento
18.
J Clin Neurophysiol ; 22(4): 253-5, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16093897

RESUMO

The EEG is a common test ordered in the elderly population for a variety of indications such as syncope, encephalopathic states, transient unresponsive episodes, and clinical seizures. The authors analyzed the spectrum of EEG abnormalities in a series of 300 homogenous elderly patients in the southern region of Ireland who were referred for the above indications. Generalized slowing was seen in 30.7% and focal abnormalities in 9% of records. Thirteen records demonstrated focal sharp waves and one record showed generalized epileptiform discharges. Two records with seizures were identified, both with nonconvulsive status epilepticus. The incidence of ECG abnormalities was high (23%). In patients referred for syncope, the incidence of EEG epileptiform abnormalities (sharp waves) was 3%, in contrast to previous reports of 49%. In patients older than 80 years (the "old old"), EEG abnormalities were more common. The yield of the EEG for common referrals such as syncope, encephalopathy, and transient unresponsiveness is low for focal abnormalities. Electrocardiographic abnormalities were common and should be identified and treated appropriately.


Assuntos
Eletroencefalografia , Epilepsia/diagnóstico , Avaliação Geriátrica , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Eletroencefalografia/estatística & dados numéricos , Epilepsia/classificação , Epilepsia/fisiopatologia , Feminino , Humanos , Masculino , Estudos Prospectivos , Estudos Retrospectivos
19.
J Neurooncol ; 63(2): 187-90, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12825823

RESUMO

Paraneoplastic cerebellar degeneration (PCD) is a debilitating neuro-degenerative disease associated with antibodies directed against the purkinje cells of the cerebellum. Treatment using chemotherapy or other treatment of the primary tumor to various immunologically directed therapies has been attempted but outcomes have been poor. We discuss a patient with ovarian carcinoma and PCD seen in our institution who showed a marked beneficial response to intravenous immunoglobulin (IVIG) and methylprednisolone. A Medline search from 1966-2002 produced fifteen cases of PCD confirmed by antibody testing that were treated with IVIG, either alone, or with a combination of other therapies. The clinical characteristics and treatment responses of these patients are analyzed in this review. Most patients that were treated with IVIG and had what was defined as a good response were treated within one month of symptoms. Patients treated between one month and three months often had stable disease and patients treated after three months of symptoms usually had a poor outcome. Early treatment with sufficiently high doses of IVIG seems to provide a better chance of treatment success. The additional benefit of early high dose intravenous methylprednisolone is unclear. Due to the devastating nature of the disease, a trial of IVIG and steroids is warranted as early as possible in a dose of 2g/kg to any patient with a clinical picture of PCD and positive antibodies.


Assuntos
Anti-Inflamatórios/uso terapêutico , Autoantígenos/imunologia , Proteínas de Ligação a DNA/imunologia , Imunoglobulinas Intravenosas/uso terapêutico , Proteínas de Neoplasias/imunologia , Proteínas do Tecido Nervoso , Neoplasias Ovarianas/tratamento farmacológico , Degeneração Paraneoplásica Cerebelar/tratamento farmacológico , Quimioterapia Combinada , Feminino , Humanos , Metilprednisolona/uso terapêutico , Pessoa de Meia-Idade , Neoplasias Ovarianas/imunologia , Degeneração Paraneoplásica Cerebelar/imunologia
20.
J Child Neurol ; 18(4): 304-5, 2003 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12760437

RESUMO

Sturge-Weber syndrome is characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma. Variants of this classical presentation have been described in the literature, some of which have prognostic significance. We report a magnetic resonance imaging (MRI)-confirmed variant of a leptomeningeal angioma contralateral to the facial nevus. We describe one patient with Sturge-Weber syndrome who presented with a left-sided facial nevus, left eye glaucoma, episodes of left-sided weakness, and right-sided leptomeningeal angiomatosis by gadolinium-enhanced brain MRI. The literature regarding variants of Sturge-Weber syndrome and their prognosis is reviewed. The prognosis for this variant is likely similar to Sturge-Weber syndrome with an ipsilateral leptomeningeal angioma.


Assuntos
Angiomatose/etiologia , Neoplasias Faciais/etiologia , Neoplasias Meníngeas/etiologia , Nevo/etiologia , Neoplasias Cutâneas/etiologia , Síndrome de Sturge-Weber/complicações , Adolescente , Angiomatose/patologia , Neoplasias Faciais/patologia , Feminino , Humanos , Imagem por Ressonância Magnética , Neoplasias Meníngeas/patologia , Nevo/patologia , Neoplasias Cutâneas/patologia , Síndrome de Sturge-Weber/patologia
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