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1.
Hum Mutat ; 39(11): 1476-1484, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30311377

RESUMO

The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indication for diagnostic genetic testing. Within the larger ClinGen framework, the ClinGen Epilepsy Gene Curation Expert Panel is tasked with connecting two increasingly separate fields: the domain of traditional clinical epileptology, with its own established language and classification criteria, and the rapidly evolving area of diagnostic genetic testing that adheres to formal criteria for gene and variant curation. We identify critical components unique to the epilepsy gene curation effort, including: (a) precise phenotype definitions within existing disease and phenotype ontologies; (b) consideration of when epilepsy should be curated as a distinct disease entity; (c) strategies for gene selection; and (d) emerging rules for evaluating functional models for seizure disorders. Given that de novo variants play a prominent role in many of the epilepsies, sufficient genetic evidence is often awarded early in the curation process. Therefore, the emphasis of gene curation is frequently shifted toward an iterative precuration process to better capture phenotypic associations. We demonstrate that within the spectrum of neurodevelopmental disorders, gene curation for epilepsy-associated genes is feasible and suggest epilepsy-specific conventions, laying the groundwork for a curation process of all major epilepsy-associated genes.

2.
J Child Neurol ; 32(10): 861-866, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28635418

RESUMO

The association of infantile spasms and periventricular leukomalacia and/or intraventricular hemorrhage is well documented. Data regarding early treatment-based and long-term outcomes are limited. A retrospective chart review identified children with infantile spasms born prematurely (<37 weeks) with diagnoses of periventricular leukomalacia and/or intraventricular hemorrhage. Thirteen children were included. Median gestational age was 30 weeks and age of onset of infantile spasms was 8 months. Nine children had intraventricular hemorrhage, 10 had periventricular leukomalacia, and 6 children had both. Twelve of 13 children had resolution of spasms. In responders, the successful medication was adrenocorticotropic hormone (ACTH) in 7, topiramate in 3, and vigabatrin in 2. Follow-up after a median of 7.1 years found that all patients had developmental delay but only 1 had refractory epilepsy. Standard therapies (ACTH and vigabatrin) appeared to be more effective than other treatments. Developmental delay is common in children with periventricular leukomalacia / intraventricular hemorrhage and infantile spasms, but refractory epilepsy might be less frequent.


Assuntos
Doenças do Prematuro/terapia , Leucomalácia Periventricular/terapia , Espasmos Infantis/terapia , Encéfalo/diagnóstico por imagem , Criança , Deficiências do Desenvolvimento/etiologia , Deficiências do Desenvolvimento/fisiopatologia , Deficiências do Desenvolvimento/prevenção & controle , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/fisiopatologia , Leucomalácia Periventricular/diagnóstico por imagem , Leucomalácia Periventricular/fisiopatologia , Masculino , Estudos Retrospectivos , Espasmos Infantis/diagnóstico por imagem , Espasmos Infantis/fisiopatologia , Resultado do Tratamento
3.
Hum Genet ; 136(7): 821-834, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28393272

RESUMO

Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several human diseases, such as neurodegenerative diseases. The RNA splicing process is facilitated by the spliceosome, a large RNA-protein complex consisting of small nuclear ribonucleoproteins (snRNPs), and many other proteins, such as heterogeneous nuclear ribonucleoproteins (hnRNPs). The HNRNPU gene (OMIM *602869) encodes the heterogeneous nuclear ribonucleoprotein U, which plays a crucial role in mammalian development. HNRNPU is expressed in the fetal brain and adult heart, kidney, liver, brain, and cerebellum. Microdeletions in the 1q44 region encompassing HNRNPU have been described in patients with intellectual disability (ID) and other clinical features, such as seizures, corpus callosum abnormalities (CCA), and microcephaly. Recently, pathogenic HNRNPU variants were identified in large ID and epileptic encephalopathy cohorts. In this study, we provide detailed clinical information of five novels and review two of the previously published individuals with (likely) pathogenic de novo variants in the HNRNPU gene including three non-sense and two missense variants, one small intragenic deletion, and one duplication. The phenotype in individuals with variants in HNRNPU is characterized by early onset seizures (6/7), severe ID (6/6), severe speech impairment (6/6), hypotonia (6/7), and central nervous system (CNS) (5/6), cardiac (4/6), and renal abnormalities (3/4). In this study, we broaden the clinical and mutational HNRNPU-associated spectrum, and demonstrate that heterozygous HNRNPU variants cause epilepsy, severe ID with striking speech impairment and variable CNS, cardiac, and renal anomalies.


Assuntos
Epilepsia/genética , Ribonucleoproteínas Nucleares Heterogêneas Grupo U/genética , Heterozigoto , Deficiência Intelectual/genética , Idade de Início , Agenesia do Corpo Caloso/genética , Sistema Nervoso Central/anormalidades , Sistema Nervoso Central/patologia , Deleção Cromossômica , Cromossomos Humanos Par 1 , Epilepsia/diagnóstico , Feminino , Variação Genética , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Rim/anormalidades , Masculino , Microcefalia/diagnóstico , Microcefalia/genética , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Fenótipo , Processamento de RNA , Ribonucleoproteínas Nucleares Pequenas/genética , Convulsões/diagnóstico , Convulsões/genética
4.
Epilepsia ; 58(3): 436-445, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28139826

RESUMO

OBJECTIVE: To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome. METHODS: Ten children with heterozygous, de novo KCNQ2 R201C or R201H variants were identified worldwide, using an institutional review board (IRB)-approved KCNQ2 patient registry and database. We reviewed medical records and, where possible, interviewed parents and treating physicians using a structured, detailed phenotype inventory focusing on the neonatal presentation and subsequent course. RESULTS: Nine patients had encephalopathy from birth and presented with prominent startle-like myoclonus, which could be triggered by sound or touch. In seven patients, electroencephalography (EEG) was performed in the neonatal period and showed a burst-suppression pattern. However, myoclonus did not have an EEG correlate. In many patients the paroxysmal movements were misdiagnosed as seizures. Seven patients developed epileptic spasms in infancy. In all patients, EEG showed a slow background and multifocal epileptiform discharges later in life. Other prominent features included respiratory dysfunction (perinatal respiratory failure and/or chronic hypoventilation), hypomyelination, reduced brain volume, and profound developmental delay. One patient had a later onset, and sequencing indicated that a low abundance (~20%) R201C variant had arisen by postzygotic mosaicism. SIGNIFICANCE: Heterozygous KCNQ2 R201C and R201H gain-of-function variants present with profound neonatal encephalopathy in the absence of neonatal seizures. Neonates present with nonepileptic myoclonus that is often misdiagnosed and treated as seizures. Prognosis is poor. This clinical presentation is distinct from the phenotype associated with loss-of-function variants, supporting the value of in vitro functional screening. These findings suggest that gain-of-function and loss-of-function variants need different targeted therapeutic approaches.


Assuntos
Canal de Potássio KCNQ2/genética , Mioclonia/genética , Polimorfismo de Nucleotídeo Único/genética , Espasmos Infantis/genética , Anticonvulsivantes/uso terapêutico , Arginina/genética , Pré-Escolar , Cisteína/genética , Eletroencefalografia , Feminino , Histidina/genética , Humanos , Lactente , Recém-Nascido , Imagem por Ressonância Magnética , Masculino , Mioclonia/diagnóstico por imagem , Mioclonia/tratamento farmacológico , Mioclonia/fisiopatologia , Fenótipo , Sistema de Registros , Transtornos Respiratórios/etiologia , Transtornos Respiratórios/genética
5.
Neurol Genet ; 2(5): e96, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27602407

RESUMO

OBJECTIVE: To advance the understanding of KCNQ2 encephalopathy genotype-phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments. METHODS: We retrospectively studied 23 patients with KCNQ2 encephalopathy, including 11 treated with ezogabine (EZO). We analyzed the genotype-phenotype relationships in these and 70 previously described patients. RESULTS: The mean seizure onset age was 1.8 ± 1.6 (SD) days. Of the 20 EEGs obtained within a week of birth, 11 showed burst suppression. When new seizure types appeared in infancy (15 patients), the most common were epileptic spasms (n = 8). At last follow-up, seizures persisted in 9 patients. Development was delayed in all, severely in 14. The KCNQ2 variants identified introduced amino acid missense changes or, in one instance, a single residue deletion. They were clustered in 4 protein subdomains predicted to poison tetrameric channel functions. EZO use (assessed by the treating physicians and parents) was associated with improvement in seizures and/or development in 3 of the 4 treated before 6 months of age, and 2 of the 7 treated later; no serious side effects were observed. CONCLUSIONS: KCNQ2 variants cause neonatal-onset epileptic encephalopathy of widely varying severity. Pathogenic variants in epileptic encephalopathy are clustered in "hot spots" known to be critical for channel activity. For variants causing KCNQ2 channel loss of function, EZO appeared well tolerated and potentially beneficial against refractory seizures when started early. Larger, prospective studies are needed to enable better definition of prognostic categories and more robust testing of novel interventions. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that EZO is effective for refractory seizures in patients with epilepsy due to KCNQ2 encephalopathy.

6.
Aging (Albany NY) ; 7(9): 648-63, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26399365

RESUMO

Downregulation of Rpd3, a homologue of mammalian Histone Deacetylase 1 (HDAC1), extends lifespan in Drosophila melanogaster. Once revealed that long-lived fruit flies exhibit limited cardiac decline, we investigated whether Rpd3 downregulation would improve stress resistance and/or lifespan when targeted in the heart. Contested against three different stressors (oxidation, starvation and heat), heart-specific Rpd3 downregulation significantly enhanced stress resistance in flies. However, these higher levels of resistance were not observed when Rpd3 downregulation was targeted in other tissues or when other long-lived flies were tested in the heart-specific manner. Interestingly, the expressions of anti-aging genes such as sod2, foxo and Thor, were systemically increased as a consequence of heart-specific Rpd3 downregulation. Showing higher resistance to oxidative stress, the heart-specific Rpd3 downregulation concurrently exhibited improved cardiac functions, demonstrating an increased heart rate, decreased heart failure and accelerated heart recovery. Conversely, Rpd3 upregulation in cardiac tissue reduced systemic resistance against heat stress with decreased heart function, also specifying phosphorylated Rpd3 levels as a significant modulator. Continual downregulation of Rpd3 throughout aging increased lifespan, implicating that Rpd3 deacetylase in the heart plays a significant role in cardiac function and longevity to systemically modulate the fly's response to the environment.


Assuntos
Proteínas de Drosophila/biossíntese , Proteínas de Drosophila/genética , Coração/fisiologia , Histona Desacetilase 1/biossíntese , Histona Desacetilase 1/genética , Longevidade/genética , Longevidade/fisiologia , Envelhecimento/genética , Animais , Regulação para Baixo , Drosophila melanogaster , Insuficiência Cardíaca/epidemiologia , Insuficiência Cardíaca/genética , Frequência Cardíaca/genética , Transtornos de Estresse por Calor/genética , Transtornos de Estresse por Calor/fisiopatologia , Mutação/genética , Estresse Oxidativo , Fosforilação
7.
Clin Trials ; 10(4): 568-86, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23818435

RESUMO

BACKGROUND: Epilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target new prediction, treatment, and prevention strategies. However, despite significant progress in the identification of genes causing epilepsy in families with a Mendelian inheritance pattern, there is relatively little known about the genetic factors responsible for common forms of epilepsy and so-called epileptic encephalopathies. Study design The Epilepsy Phenome/Genome Project (EPGP) is a multi-institutional, retrospective phenotype-genotype study designed to gather and analyze detailed phenotypic information and DNA samples on 5250 participants, including probands with specific forms of epilepsy and, in a subset, parents of probands who do not have epilepsy. RESULTS: EPGP is being executed in four phases: study initiation, pilot, study expansion/establishment, and close-out. This article discusses a number of key challenges and solutions encountered during the first three phases of the project, including those related to (1) study initiation and management, (2) recruitment and phenotyping, and (3) data validation. The study has now enrolled 4223 participants. CONCLUSIONS: EPGP has demonstrated the value of organizing a large network into cores with specific roles, managed by a strong Administrative Core that utilizes frequent communication and a collaborative model with tools such as study timelines and performance-payment models. The study also highlights the critical importance of an effective informatics system, highly structured recruitment methods, and expert data review.


Assuntos
Epilepsia/genética , Genótipo , Fenótipo , Pesquisa em Genética , Humanos , Gestão da Informação , Análise de Sequência com Séries de Oligonucleotídeos , Projetos de Pesquisa , Estudos Retrospectivos
8.
Am J Med Genet A ; 158A(12): 3002-17, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23169767

RESUMO

Pallister-Killian syndrome is a rare, multi-system developmental diagnosis typically caused by tetrasomy of chromosome 12p that exhibits tissue-limited mosaicism. The spectrum of clinical manifestations in Pallister-Killian syndrome is wide and includes craniofacial anomalies, clefts, ophthalmologic, audiologic, cardiac, musculoskeletal, diaphragmatic, gastrointestinal, genitourinary, and cutaneous anomalies in association with intellectual disability and seizures. Growth parameters are often normal to elevated at birth with deceleration of growth postnatally. No formal estimate of the prevalence of Pallister-Killian syndrome has been made. Here, we report the clinical findings in 59 individuals with Pallister-Killian syndrome who were ascertained at Pallister-Killian syndrome Foundation family meetings held in the summers of 2006, 2008, 2009, and 2010. In addition, the clinical findings of 152 cases reported in the medical literature were reviewed and compared to the cohort examined here. Several novel clinical characteristics were identified through detailed dysmorphology examinations of this cohort and reassertion of a mild developmental variant is described. This report expands the clinical manifestations of Pallister-Killian syndrome and highlights the variable expressivity of this diagnosis with important implications for diagnosis and counseling.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 12 , Tetrassomia/diagnóstico , Tetrassomia/genética , Adulto , Criança , Pré-Escolar , Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 12/genética , Estudos de Coortes , Feminino , Humanos , Masculino
9.
Neurol Clin Pract ; 2(1): 40-47, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29443293

RESUMO

Epilepsy in children can be very different from epilepsy in adults, both in seizure type and epilepsy syndrome. The goal in treating children is seizure freedom, no treatment side effects, and function that is no different from the general population. In a significant percentage of patients, this goal remains unachievable, but many aspects of epilepsy are becoming clearer. This review will highlight 5 areas where progress is being made to achieve these goals in pediatric epilepsy. Specific research animal models are being developed to reflect the unique features of different pediatric epilepsies. As genetic syndromes are better identified, for some patients this has led to improved treatment. New advances in drug therapy have led to 3 new medications approved for children. More effective drug choices can now be recommended due to comparative drug trials and better overall care of children can be provided due to awareness of the comorbidities of epilepsy.

10.
J Biol Chem ; 283(21): 14524-31, 2008 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-18337241

RESUMO

STIM1 has been recently identified as a Ca(2+) sensor in endoplasmic reticulum (ER) and an initiator of the store-operated Ca(2+) entry (SOCE) pathway, but the mechanism of SOCE activation remains controversial. Here we focus on the early ER-delimited steps of the SOCE pathway and demonstrate that STIM1 is critically involved in initiating of production of calcium influx factor (CIF), a diffusible messenger that can deliver the signal from the stores to plasma membrane and activate SOCE. We discovered that CIF production is tightly coupled with STIM1 expression and requires functional integrity of its intraluminal sterile alpha-motif (SAM) domain. We demonstrate that 1) molecular knockdown or overexpression of STIM1 results in corresponding impairment or amplification of CIF production and 2) inherent deficiency in the ER-delimited CIF production and SOCE activation in some cell types can be a result of their deficiency in STIM1 protein; expression of a wild-type STIM1 in such cells was sufficient to fully rescue their ability to produce CIF and SOCE. We found that glycosylation sites in the ER-resident SAM domain of STIM1 are essential for initiation of CIF production. We propose that after STIM1 loses Ca(2+) from EF hand, its intraluminal SAM domain may change conformation, and via glycosylation sites it can interact with and activate CIF-producing machinery. Thus, CIF production appears to be one of the earliest STIM1-dependent events in the ER lumen, and impairment of this process results in impaired SOCE response.


Assuntos
Cálcio/metabolismo , Proteínas de Membrana/metabolismo , Proteínas de Neoplasias/metabolismo , Animais , Linhagem Celular , Regulação para Baixo , Glicosilação , Fosfolipases A2 do Grupo VI/metabolismo , Proteínas de Membrana/química , Proteínas de Membrana/genética , Modelos Moleculares , Proteínas de Neoplasias/química , Proteínas de Neoplasias/genética , Estrutura Terciária de Proteína , Coelhos
11.
Am J Physiol Heart Circ Physiol ; 294(3): H1183-7, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18156193

RESUMO

Store-operated channels (SOC) and store-operated Ca2+ entry are known to play a major role in agonist-induced constriction of smooth muscle cells (SMC) in conduit vessels. In microvessels the role of SOC remains uncertain, in as much as voltage-gated L-type Ca2+ (Ca2+L) channels are thought to be fully responsible for agonist-induced Ca2+ influx and vasoconstriction. We present evidence that SOC and their activation via a Ca2+-independent phospholipase A2 (iPLA2)-mediated pathway play a crucial role in agonist-induced constriction of cerebral, mesenteric, and carotid arteries. Intracellular Ca2+ in SMC and intraluminal diameter were measured simultaneously in intact pressurized vessels in vitro. We demonstrated that 1) Ca2+ and contractile responses to phenylephrine (PE) in cerebral and carotid arteries were equally abolished by nimodipine (a Ca2+L) inhibitor) and 2-aminoethyl diphenylborinate (an inhibitor of SOC), suggesting that SOC and Ca2+L channels may be involved in agonist-induced constriction of cerebral arteries, and 2) functional inhibition of iPLA2beta totally inhibited PE-induced Ca2+ influx and constriction in cerebral, mesenteric, and carotid arteries, whereas K+-induced Ca2+ influx and vasoconstriction mediated by Ca2+L channels were not affected. Thus iPLA2-dependent activation of SOC is crucial for agonist-induced Ca2+ influx and vasoconstriction in cerebral, mesenteric, and carotid arteries. We propose that, on PE-induced depletion of Ca2+ stores, nonselective SOC are activated via an iPLA2-dependent pathway and may produce a depolarization of SMC, which could trigger a secondary activation of Ca2+L channels and lead to Ca2+ entry and vasoconstriction.


Assuntos
Agonistas dos Canais de Cálcio/farmacologia , Sinalização do Cálcio/fisiologia , Cálcio/metabolismo , Artérias Carótidas/efeitos dos fármacos , Artérias Cerebrais/efeitos dos fármacos , Fosfolipases A2 do Grupo VI/fisiologia , Artérias Mesentéricas/efeitos dos fármacos , Músculo Liso Vascular/efeitos dos fármacos , Animais , Sinalização do Cálcio/efeitos dos fármacos , Fosfolipases A2 do Grupo VI/genética , Técnicas In Vitro , Contração Isométrica/efeitos dos fármacos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Contração Muscular/efeitos dos fármacos , Tono Muscular/efeitos dos fármacos , Fenilefrina/farmacologia , Vasoconstritores/farmacologia
12.
J Appl Physiol (1985) ; 98(5): 1940-8, 2005 May.
Artigo em Inglês | MEDLINE | ID: mdl-15626753

RESUMO

Several recent studies have implicated the RhoA-Rho kinase pathway in arterial myogenic behavior. The goal of this study was to determine the effects of Rho kinase inhibition (Y-27632) on cerebral artery calcium and diameter responses as a function of transmural pressure. Excised segments of rat posterior cerebral arteries (100-200 microm) were cannulated and pressurized in an arteriograph at 37 degrees C. Increasing pressure from 10 to 60 mmHg triggered an elevation of cytosolic calcium concentration ([Ca(2+)](i)) from 113 +/- 9 to 199 +/- 12 nM and development of myogenic tone. Further elevation of pressure to 120 mmHg induced only a minor additional increase in [Ca(2+)](i) and constriction. Y-27632 (0.3-10 microM) inhibited myogenic tone in a concentration-dependent manner at 60 and 120 mmHg with comparable efficacy; conversely, sensitivity was decreased at 120 vs. 60 mmHg (50% inhibitory concentration: 2.5 +/- 0.3 vs. 1.4 +/- 0.1 microM; P < 0.05). Dilation was accompanied by further increases in [Ca(2+)](i) and an enhancement of Ca(2+) oscillatory activity. Y-27632 also effectively dilated the vessels permeabilized with alpha-toxin in a concentration-dependent manner. However, dilator effects of Y-27632 at low concentrations were larger at 60 vs. 100 mmHg. In summary, the results support a significant role for RhoA-Rho kinase pathway in cerebral artery mechanotransduction of pressure into sustained vasoconstriction (myogenic tone and reactivity) via mechanisms that augment smooth muscle calcium sensitivity. Potential downstream events may involve inhibition of myosin phosphatase and/or stimulation of actin polymerization, both of which are associated with increased smooth muscle force production.


Assuntos
Artérias Cerebrais/efeitos dos fármacos , Músculo Liso Vascular/efeitos dos fármacos , Inibidores de Proteínas Quinases/farmacologia , Proteínas Serina-Treonina Quinases/antagonistas & inibidores , Amidas/farmacologia , Animais , Artérias Cerebrais/enzimologia , Relação Dose-Resposta a Droga , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Músculo Liso Vascular/enzimologia , Proteínas Serina-Treonina Quinases/fisiologia , Piridinas/farmacologia , Ratos , Ratos Endogâmicos WKY , Quinases Associadas a rho
13.
Epilepsia ; 43(8): 874-81, 2002 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12181006

RESUMO

PURPOSE: To determine the frequency and prognostic features of acute postoperative seizures (APOSs), within the first postoperative week, in a group of children undergoing surgery for the treatment of medically refractory epilepsy. METHODS: Patients younger than 18 years who underwent surgery for the relief of medically intractable epilepsy at the Mayo Clinic between 1985 and 1998 with a minimum of 12 months of follow-up were eligible. A retrospective chart review was conducted to abstract information regarding demographics, epilepsy history, and preoperative, intraoperative, and postoperative risk factors, APOSs, and outcome. A multivariate analysis was conducted to control for confounding variables. RESULTS: The study group was composed of 148 patients (mean age at surgery, 13 years; range, 5 months to 18 years). Twenty-five percent of patients experienced APOSs. Risk factors associated with a statistically significant (p < 0.05) greater likelihood of experiencing APOS were non-complex partial seizure type, extratemporal surgery, postoperative fever, non-temporal lobe epilepsy, and postoperative interictal epileptiform activity. At last follow-up, patients who did not experience APOSs had a significantly greater chance of being seizure free (80 vs. 51%; p < 0.001). With a multivariate analysis, APOS was found to be an independent predictor of outcome. CONCLUSIONS: This study indicates that APOSs are predictive of a less favorable outcome in the pediatric postsurgical patient; however, 51% remained seizure free at last follow-up. Finally, the effects of APOSs on outcome were shown to be stable over a 12-month follow-up period.


Assuntos
Epilepsia/cirurgia , Complicações Pós-Operatórias/epidemiologia , Convulsões/epidemiologia , Doença Aguda , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Análise Multivariada , Prognóstico , Fatores de Risco
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