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1.
Mol Genet Metab ; 125(3): 235-240, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30197275

RESUMO

BACKGROUND: Continuous EEG studies demonstrate that neonates with seizures due to cerebral pathology, such as hypoxia ischemia, exhibit predominantly electrographic seizures (i.e. those only detected with EEG because they lack clinical features). Previous small case series demonstrate EEG changes and seizures during hyperammonemia associated with inborn errors of metabolism (IEM) but there are no reports utilizing continuous EEG in these conditions. OBJECTIVE: To characterize seizures and evaluate the utility of continuous EEG recording during hyperammonemia due to inborn errors of metabolism. METHODS: We retrospectively reviewed medical records and EEG tracings of neonates who presented with hyperammonemia due to inborn errors of metabolism who had continuous EEG and full medical records available for review, including follow up. RESULTS: Eight neonates with hyperammonemia were studied, 7 had urea cycle defects: Argininosuccinate lyase deficiency [3], (ornithine transcarbamylase deficiency [3], carbomyl phosphate synthase deficiency [1] and one had an organic acidemia: Methylmalonic acidemia [1]. Most common presentations were lethargy and poor feeding at 12-72 h of life. The highest blood ammonia level was 874 µmol/L (median); range 823-1647 µmol/L (normal value <50 µmol/L in term neonates). Seven were treated with hemodialysis in addition to nitrogen scavengers. Seven neonates had seizures; six had only electrographic seizures. Seizures initially occurred within 24-36 h of clinical presentation, sometimes with normal ammonia and glutamine levels. Neonates with seizures all lacked state changes on EEG. Inter burst interval duration correlated with degree of hyperammonemia. Two cases with normal plasma ammonia but increasing interburst interval duration were proven to have stroke by MRI. CONCLUSIONS: Seizures occur frequently in neonates with hyperammonemia; most can be detected only with continuous EEG. Seizures may occur when ammonia and glutamine levels are normal. Interburst interval duration is associated with ammonia levels or cerebral dysfunction from other brain pathology. Continuous EEG can be a useful tool for managing infants with hyperammonemia and may be essential for seizure management especially for infants in deep metabolic coma.


Assuntos
Amônia/sangue , Eletroencefalografia , Hiperamonemia/sangue , Erros Inatos do Metabolismo/sangue , Convulsões/sangue , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico por imagem , Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia , Argininossuccinato Sintase/sangue , Acidúria Argininossuccínica/sangue , Acidúria Argininossuccínica/diagnóstico por imagem , Acidúria Argininossuccínica/fisiopatologia , Feminino , Glutamina/sangue , Humanos , Hiperamonemia/diagnóstico por imagem , Hiperamonemia/fisiopatologia , Hipóxia-Isquemia Encefálica/sangue , Hipóxia-Isquemia Encefálica/diagnóstico por imagem , Hipóxia-Isquemia Encefálica/fisiopatologia , Lactente , Recém-Nascido , Masculino , Erros Inatos do Metabolismo/diagnóstico por imagem , Erros Inatos do Metabolismo/fisiopatologia , Doença da Deficiência de Ornitina Carbomoiltransferase/sangue , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico por imagem , Doença da Deficiência de Ornitina Carbomoiltransferase/fisiopatologia , Convulsões/diagnóstico por imagem , Convulsões/fisiopatologia
2.
Epilepsia ; 59(5): e63-e67, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29600511

RESUMO

Arterial spin labeling (ASL) magnetic resonance imaging (MRI) can assess cerebral blood flow (CBF) without using radiolabeled tracers. It is unknown whether regional increases in CBF on ASL MRI correlate with seizure location in newborns. We report 3 newborns with focal seizures localized on continuous video electroencephalogram (cEEG), anatomical brain MRI, and ASL MRI. Each patient underwent pseudocontinuous ASL with segmented 3-dimensional fast spin echo readout as part of standard care. Case 1 is a term male infant presenting with left temporal status epilepticus and recurrent cEEG seizures from an idiopathic large left intraventricular hemorrhage. ASL images demonstrated left mesial temporal lobe increased CBF. Case 2 is a late preterm male infant presenting with recurrent cEEG seizures due to focal right megalencephaly. Ictal EEG and ASL images coincided with the focal dysplasia. Case 3 is a dysmorphic term female infant with nonconvulsive partial status epilepticus identified by focal increased CBF of the left temporal lobe on ASL images. The area of increased CBF was within an area of extensive left hemisphere dysplasia. To our knowledge, this is the first report of regional increases in CBF on ASL MRI correlating with ictal cEEG in newborns.


Assuntos
Encéfalo/diagnóstico por imagem , Circulação Cerebrovascular/fisiologia , Imageamento por Ressonância Magnética/métodos , Convulsões/diagnóstico por imagem , Encéfalo/irrigação sanguínea , Encéfalo/fisiopatologia , Eletroencefalografia , Feminino , Humanos , Recém-Nascido , Masculino , Convulsões/fisiopatologia , Marcadores de Spin
3.
J Pediatr ; 181: 298-301.e1, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27829512

RESUMO

We aimed to define determinants of duration of treatment for acute symptomatic neonatal seizures in a contemporary multicenter observational cohort study. After adjustment for potential confounders, only study site and seizure etiology remained significantly associated with the chance of continuing antiseizure medication after discharge to home.


Assuntos
Anticonvulsivantes/uso terapêutico , Convulsões/tratamento farmacológico , Estudos de Coortes , Eletroencefalografia , Feminino , Humanos , Recém-Nascido , Masculino , Estudos Prospectivos , Sistema de Registros , Convulsões/etiologia , Fatores de Tempo
4.
Epilepsia ; 58(3): 429-435, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28166364

RESUMO

OBJECTIVE: Research using neonatal electroencephalography (EEG) has been limited by a lack of a standardized classification system and interpretation terminology. In 2013, the American Clinical Neurophysiology Society (ACNS) published a guideline for standardized terminology and categorization in the description of continuous EEG in neonates. We sought to assess interrater agreement for this neonatal EEG categorization system as applied by a group of pediatric neurophysiologists. METHODS: A total of 60 neonatal EEG studies were collected from three institutions. All EEG segments were from term neonates with hypoxic-ischemic encephalopathy. Three pediatric neurophysiologists independently reviewed each record using the ACNS standardized scoring system. Unweighted kappa values were calculated for interrater agreement of categorical data across multiple observers. RESULTS: Interrater agreement was very good for identification of seizures (κ = 0.93, p < 0.001), with perfect agreement in 95% of records (57 of 60). Interrater agreement was moderate for classifying records as normal or having any abnormality (κ = 0.49, p < 0.001), with perfect agreement in 78% of records (47 of 60). Interrater agreement was good in classifying EEG backgrounds on a 5-category scale (normal, excessively discontinuous, burst suppression, status epilepticus, or electrocerebral inactivity) (κ = 0.70, p < 0.001), with perfect agreement in 72% of records (43 of 60). Other specific background features had lower agreement, including voltage (κ = 0.41, p < 0.001), variability (κ = 0.35, p < 0.001), symmetry (κ = 0.18, p = 0.01), presence of abnormal sharp waves (κ < 0.20, p < 0.05), and presence of brief rhythmic discharges (κ < 0.20, p < 0.05). SIGNIFICANCE: We found good or very good interrater agreement applying the ACNS system for identification of seizures and classification of EEG background. Other specific EEG features showed limited interrater agreement. Of importance to both clinicians and researchers, our findings support using the ACNS system in identifying seizures and classifying backgrounds of neonatal EEG recordings, but also suggest limited reproducibility for certain other EEG features.


Assuntos
Ondas Encefálicas/fisiologia , Eletroencefalografia , Hipóxia-Isquemia Encefálica/diagnóstico , Hipóxia-Isquemia Encefálica/fisiopatologia , Eletroencefalografia/normas , Feminino , Humanos , Recém-Nascido , Masculino , Estudos Multicêntricos como Assunto , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Estudos Retrospectivos , Estatísticas não Paramétricas
5.
Childs Nerv Syst ; 33(3): 521-527, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27796549

RESUMO

PURPOSE: Conflicting challenges abound in the management of the newborn with intractable epilepsy related to hemimegalencephaly. Early hemispherectomy to stop seizures and prevent deleterious consequences to future neurocognitive development must be weighed against the technical and anesthetic challenges of performing major hemispheric surgery in the neonate. METHODS: We hereby present our experience with two neonates with hemimegalencephaly and intractable seizures who were managed using a strategy of initial minimally invasive embolization of the cerebral blood supply to the involved hemisphere. RESULTS: Immediate significant seizure control was achieved after embolization of the cerebral blood supply to the involved hemisphere followed by delayed ipsilateral hemispheric resection at a later optimal age. CONCLUSION: The considerations and challenges encountered in the course of the management of these patients are discussed, and a literature review is presented.


Assuntos
Gerenciamento Clínico , Epilepsia/cirurgia , Hemisferectomia/métodos , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Feminino , Lateralidade Funcional/fisiologia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino
6.
J Pediatr ; 174: 98-103.e1, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27106855

RESUMO

OBJECTIVE: To determine the contemporary etiology, burden, and short-term outcomes of seizures in neonates monitored with continuous video-electroencephalogram (cEEG). STUDY DESIGN: We prospectively collected data from 426 consecutive neonates (56% male, 88% term) ≤44 weeks' postmenstrual age with clinically suspected seizures and/or electrographic seizures. Subjects were assessed between January 2013 and April 2015 at 7 US tertiary care pediatric centers following the guidelines of the American Clinical Neurophysiology Society for cEEG for at-risk neonates. Seizure etiology, burden, management, and outcome were determined by chart review by the use of a case report form designed at study onset. RESULTS: The most common seizure etiologies were hypoxic-ischemic encephalopathy (38%), ischemic stroke (18%), and intracranial hemorrhage (11%). Seizure burden was high, with 59% having ≥7 electrographic seizures and 16% having status epilepticus; 52% received ≥2 antiseizure medications. During the neonatal admission, 17% died; 49% of survivors had abnormal neurologic examination at hospital discharge. In an adjusted analysis, high seizure burden was a significant risk factor for mortality, length of hospital stay, and abnormal neurological examination at discharge. CONCLUSIONS: In this large contemporary profile of consecutively enrolled newborns with seizures treated at centers that use cEEG per the guidelines of the American Clinical Neurophysiology Society, about one-half had high seizure burden, received ≥2 antiseizure medications, and/or died or had abnormal examination at discharge. Greater seizure burden was associated with increased morbidity and mortality. These findings underscore the importance of accurate determination of neonatal seizure frequency and etiology and a potential for improved outcome if seizure burden is reduced.


Assuntos
Doenças do Prematuro/etiologia , Convulsões/etiologia , Anticonvulsivantes/uso terapêutico , Estudos de Coortes , Eletroencefalografia , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/tratamento farmacológico , Doenças do Prematuro/mortalidade , Tempo de Internação , Masculino , Avaliação de Resultados em Cuidados de Saúde , Convulsões/tratamento farmacológico , Convulsões/mortalidade
7.
Epilepsia ; 56(8): 1185-97, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26122601

RESUMO

Evidence-based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were assessed using the American Academy of Neurology Guidelines and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The report contains recommendations for different levels of care, noting which would be regarded as standard care, compared to optimal care, or "state of the art" interventions. The incidence of epilepsy in the infantile period is the highest of all age groups (strong evidence), with epileptic spasms the largest single subgroup and, in the first 2 years of life, febrile seizures are the most commonly occurring seizures. Acute intervention at the time of a febrile seizure does not alter the risk for subsequent epilepsy (class 1 evidence). The use of antipyretic agents does not alter the recurrence rate (class 1 evidence), and there is no evidence to support initiation of regular antiepileptic drugs for simple febrile seizures (class 1 evidence). Infants with abnormal movements whose routine electroencephalography (EEG) study is not diagnostic, would benefit from video-EEG analysis, or home video to capture events (expert opinion, level U recommendation). Neuroimaging is recommended at all levels of care for infants presenting with epilepsy, with magnetic resonance imaging (MRI) recommended as the standard investigation at tertiary level (level A recommendation). Genetic screening should not be undertaken at primary or secondary level care (expert opinion). Standard care should permit genetic counseling by trained personal at all levels of care (expert opinion). Genetic evaluation for Dravet syndrome, and other infantile-onset epileptic encephalopathies, should be available in tertiary care (weak evidence, level C recommendation). Patients should be referred from primary or secondary to tertiary level care after failure of one antiepileptic drug (standard care) and optimal care equates to referral of all infants after presentation with a seizure (expert opinion, level U evidence). Infants with recurrent seizures warrant urgent assessment for initiation of antiepileptic drugs (expert opinion, level U recommendation). Infantile encephalopathies should have rapid introduction and increment of antiepileptic drug dosage (expert opinion, level U recommendation). There is no high level evidence to support any particular current agents for use in infants with seizures. For focal seizures, levetiracetam is effective (strong evidence); for generalized seizures, weak evidence supports levetiracetam, valproate, lamotrigine, topiramate, and clobazam; for Dravet syndrome, strong evidence supports that stiripentol is effective (in combination with valproate and clobazam), whereas weak evidence supports that topiramate, zonisamide, valproate, bromide, and the ketogenic diet are possibly effective; and for Ohtahara syndrome, there is weak evidence that most antiepileptic drugs are poorly effective. For epileptic spasms, clinical suspicion remains central to the diagnosis and is supported by EEG, which ideally is prolonged (level C recommendation). Adrenocorticotropic hormone (ACTH) is preferred for short-term control of epileptic spasms (level B recommendation), oral steroids are probably effective in short-term control of spasms (level C recommendation), and a shorter interval from the onset of spasms to treatment initiation may improve long-term neurodevelopmental outcome (level C recommendation). The ketogenic diet is the treatment of choice for epilepsy related to glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency (expert opinion, level U recommendation). The identification of patients as potential candidates for epilepsy surgery should be part of standard practice at primary and secondary level care. Tertiary care facilities with experience in epilepsy surgery should undertake the screening for epilepsy surgical candidates (level U recommendation). There is insufficient evidence to conclude if there is benefit from vagus nerve stimulation (level U recommendation). The key recommendations are summarized into an executive summary. The full report is available as Supporting Information. This report provides a comprehensive foundation of an approach to infants with seizures, while identifying where there are inadequate data to support recommended practice, and where further data collection is needed to address these deficits.


Assuntos
Guias de Prática Clínica como Assunto , Convulsões Febris/terapia , Espasmos Infantis/terapia , Comitês Consultivos , Anticonvulsivantes , Gerenciamento Clínico , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/terapia , Humanos , Lactente , Recém-Nascido , Neuroimagem , Convulsões Febris/diagnóstico , Espasmos Infantis/diagnóstico
8.
Clin Neurol Neurosurg ; 235: 108041, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37979562

RESUMO

Emerging neuromodulatory treatments, such as deep brain stimulation (DBS) and responsive neurostimulation (RNS), have shown promise in reducing drug-resistant seizures. While centromedian thalamic nucleus and anterior thalamic nucleus stimulation have been effective in certain types of seizures, limited research has explored pulvinar nucleus stimulation for epilepsy. To address this gap, we conducted a systematic review and individual patient data analysis. Of 78 resultant articles, 5 studies with transient stimulation and chronic stimulation of the pulvinar nucleus were included. Of the 20 patients reviewed, 65% of patients had temporal lobe seizures, while 20% had temporooccipital/occipital lobe seizures. Transient stimulation studies via stereoelectroencephalography (SEEG) showed pulvinar evoked potential response rates of 80% in the mesial temporal region, 76% in the temporal neocortex, and 67% in the TP junction. Another study reported clinically less severe seizures in 62.5% of patients with pulvinar stimulation. In chronic stimulation studies, 80% of patients responded to RNS or DBS, and 2 of 4 patients experienced > 90% seizure reduction. The pulvinar nucleus of the thalamus emerges as a potential target for chronic stimulation in drug-resistant epilepsy. However, knowledge regarding pulvinar connectivity and chronic stimulation remains limited. Further research should investigate specific subregions of the pulvinar for epilepsy treatment. Understanding the role of pulvinar stimulation and its cortical connectivity will advance therapeutic interventions for epilepsy patients.


Assuntos
Núcleos Anteriores do Tálamo , Estimulação Encefálica Profunda , Epilepsia Resistente a Medicamentos , Epilepsia , Pulvinar , Humanos , Hipocampo , Epilepsia/terapia , Tálamo , Convulsões/terapia , Epilepsia Resistente a Medicamentos/terapia , Análise de Dados
9.
J Neurointerv Surg ; 2022 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-36302639

RESUMO

BACKGROUND: This case series describes the technical considerations and effectiveness of 'endovascular embolic hemispherectomy' for the treatment of medically intractable seizures in neonates and young infants with hemimegalencephaly (HME) and in whom surgical hemispherectomy is not a viable option. METHODS: This is a descriptive review of the endovascular technique used to treat consecutive pediatric patients with serial transarterial embolization for intractable seizures due to HME between 2018 and 2022. Clinical presentation, endovascular procedural details and complications, and efficacy were examined. RESULTS: Three infants (13-day-old, 13-week-old and 15-day-old) with HME and intractable seizures underwent a total of 10 transarterial embolizations. Anticipated intraprocedural events included vasospasm and focal subarachnoid hemorrhage in all three infants, effectively controlled endovascularly, and non-target embolization in one infant. No infants had symptomatic intracranial hemorrhage or femoral artery occlusion. EEG background quiescence and seizure cessation was achieved after the final stage of embolization in all patients. All infants were discharged home from the neonatal ICU (median length of stay 36 days, range 27-74 days) and remain seizure-free to date (4 years, 9 months, and 8 months). None have developed hydrocephalus, required surgical hemispherectomy or other neurosurgical interventions. CONCLUSION: Endovascular hemispherectomy can be safely used to provide definitive treatment of HME-related epilepsy in neonates and young infants when intraprocedural events are managed effectively. This less invasive novel approach should be considered a feasible early alternative to surgical hemispherectomy. Further studies are needed to enhance the safety profile and to assess long-term neurodevelopmental outcome and durability of freedom from seizures.

10.
Epilepsy Res ; 172: 106598, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33711709

RESUMO

OBJECTIVE: Focal Cortical Dysplasias (CD) are a common etiology of refractory pediatric epilepsy and are amenable to epilepsy surgery. We investigated the association of lesion volume and location to age of seizure onset among children with CD who underwent epilepsy surgery. METHODS: A retrospective study of epilepsy surgery patients with pathologically-confirmed CD. Regions of interest (ROI) determined preoperative lesion volumes on 1.5 T and 3 T T2 and SPGR MRIs, and location in 7 distributed neural networks. Descriptive and inferential statistics were used. RESULTS: Fifty-five patients were identified: 35 girls (56.5 %). Median age of seizure onset: 19.0 months (range 0.02 months - 16.0 years). Median age of surgery: 7.8 years (range 2.89 months - 24.45 years). CD were frontal (n = 21, 38 %); temporal (n = 15, 27 %); parietal (n = 10, 18 %); occipital (n = 3, 5%); multilobar (n = 6, 11 %). Frontal FCD had seizure onset < 1-year-old (P = 0.10); temporal lobe CD seizure onset was more likely > 5-years-old (P= 0.06). Median lesion volume for CD was 23.23 cm3 (range: 1.87-591.73 cm3). Larger CD lesions were associated with earlier epilepsy (P = 0.01, r = -0.16). We did not find that lesions proximal to early maturing cortical regions were associated with earlier seizure onset. We found an association with CD location in the default mode network (DMN) and age onset < 5years old (P = 0.03). Age of seizure onset was negatively correlated with percent of CD overlapping motor cortex (P = 0.001, r =-0.794) but not with CD overlap of the visual cortex (P = 0.35). There was no effect of CD type on age of epilepsy onset. SIGNIFICANCE: Larger CD lesions are associated with earlier onset epilepsy. CD most commonly occurs within the DMN and Limbic network, and DMN is associated with seizure onset before 5-years-old. Percent of CD overlapping motor cortex correlates with earlier seizure onset. These observations may reflect patterns of brain maturation or regional differences in clinical expression of seizures.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia do Lobo Temporal , Epilepsia , Malformações do Desenvolvimento Cortical , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Epilepsia/cirurgia , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/cirurgia , Estudos Retrospectivos , Convulsões/diagnóstico por imagem , Convulsões/etiologia , Resultado do Tratamento
11.
Front Physiol ; 11: 1144, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33041849

RESUMO

Heterozygous missense variants in KCNQ2, which encodes the potassium channel subunit Kv7.2, are among the most common genetic causes of severe neonatal-onset epileptic encephalopathy. Because about 20% of known severe Kv7.2 missense changes lie within the intracellular C-terminal region, improving understanding of the underlying pathogenic mechanisms is important. We analyzed the basis for the severe phenotypes of Kv7.2 A337T and A337G, variants in the C-terminal's calmodulin (CaM)-binding Helix A. When expressed heterologously in mammalian cells, alone or in combination with wild type Kv7.2 or with wild type Kv7.2 and Kv7.3, both variants strongly suppressed channel currents. A337T channels expressed alone exhibited significantly reduced protein half-life and surface trafficking and co-immunoprecipitated less CaM. For both variants, increasing cellular phosphatidylinositol 4,5-bisphosphate (PIP2) by overexpression of PI(4)P5-kinase restored current densities. For both variants, the fraction of current suppressed by activation of M1 muscarinic receptors with 10 µM oxotremorine methiodide, which depletes PIP2, was less than for controls. During voltage-sensitive phosphatase-induced transient PIP2 depletion and resynthesize, potassium current inhibition and recovery kinetics were both markedly slowed. These results suggest that these variants may reduce currents by a mechanism not previously described: slowing of PIP2 migration between the bulk membrane and binding sites mediating channel electromechanical coupling. A novel Kv7.2/3-selective opener, SF0034, rescued current amplitudes. Our findings show that these two Helix A variants suppress channel current density strongly, consistent with their severe heterozygous phenotypes, implicate impairment of CaM and PIP2 regulation in KCNQ2 encephalopathy pathogenesis, and highlight the potential usefulness of selective Kv7 openers for this distinctive pathogenic mechanism and patient subgroup.

12.
Epilepsy Res ; 161: 106289, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32088518

RESUMO

OBJECTIVE: To determine whether clinical outcomes are improved after repeat surgery for medically refractory epilepsy in children. METHODS: This is a single-center retrospective cohort analysis of all patients who received repeat resective surgery for ongoing seizures from 2000-2017. From a total of 251 consecutive individual epilepsy surgical patients for focal resection, 53 patients met study inclusion criteria and had adequate follow-up documented. RESULTS: Median age of seizure-onset was 2.0-years-old (IQR 0.3-5.5 years). The median age at first epilepsy surgery was 6.3-years-old (IQR 2.9-9.2 years) and at second epilepsy surgery was 8.4-years-old (IQR 4.7-12.6 years). Overall, 53 % (n = 28) of this series achieved Engel Class I (seizure freedom); with improved seizure control (Engel Class I-II) in 83 % (n = 44) of the cohort. 64 % (n = 34) had one reoperation; 26 % (n = 14) had two; and 9% (n = 5) had three. Pathology: 58 % (n = 31) had focal cortical dysplasia; 13 % (n = 10) tumor; 9% (n = 5) encephalitis; 6% (n = 3) gliosis; 4% (n = 2) mesial temporal sclerosis; and 2% (n = 1) hemimegalencephaly. Tumor pathology was associated with increased chance (p = 0.01) for seizure freedom (90 % of tumor patients had Engel Class I outcome). MTS had worse outcome with both patients having ongoing seizures (Engel II-IV). There were 6 patients who developed post-operative hemiparesis; one was unplanned but resolved. SIGNIFICANCE: Reoperation for pediatric epilepsy surgery can lead to seizure freedom in many cases and improved seizure control in most cases. Reoperation for brain tumor pathology is associated with a high rate of seizure freedom.


Assuntos
Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia/cirurgia , Malformações do Desenvolvimento Cortical/cirurgia , Reoperação , Adolescente , Criança , Pré-Escolar , Epilepsia/complicações , Feminino , Humanos , Lactente , Masculino , Malformações do Desenvolvimento Cortical/complicações , Neuroimagem/métodos , Procedimentos Neurocirúrgicos , Reoperação/métodos , Convulsões/cirurgia , Resultado do Tratamento
13.
J Pediatr ; 153(1): 140-2, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18571553

RESUMO

No established guidelines address the need for lumbar puncture in fever-free infants younger than 6 months of age with a first seizure. We analyzed cerebrospinal fluid results in infants and found that lumbar puncture adds little diagnostic value to the evaluation of young, well-appearing infants presenting with possible new-onset seizures.


Assuntos
Convulsões/líquido cefalorraquidiano , Convulsões/diagnóstico , Punção Espinal , Diagnóstico Diferencial , Epilepsia/líquido cefalorraquidiano , Epilepsia/diagnóstico , Glucose/líquido cefalorraquidiano , Humanos , Lactente , Recém-Nascido , Contagem de Leucócitos , Neutrófilos/citologia , Pediatria/métodos , Estudos Prospectivos , Fatores de Tempo
14.
Pediatr Neurol ; 38(4): 248-51, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18358402

RESUMO

The vagus nerve stimulator has become a standard modality for intractable pediatric epilepsy. We reviewed our experience with major adverse events, after accidental puncture of a stimulator wire by an emergency room physician seeking intravenous access to treat status epilepticus. The Children's National Medical Center database was reviewed for patients undergoing vagus nerve stimulator placement between January 1988 and June 2006. Patient characteristics, duration of therapy, and treatment-limiting adverse events were noted. Of 62 patients implanted over 8 years, 22 (35%) had adverse events which led to a change in therapy. Adverse events included prominent drooling, coughing, throat discomfort, dysphagia, wound infection, difficulty breathing, vomiting, vocal-cord weakness, lead failure, and iatrogenic (piercing of wire; surgical clipping of wire during revision). Eight patients required nonroutine surgical intervention (13%). There were two unusual case presentations. In a 13-year-old boy with status epilepticus at an outlying emergency department, the stimulator line was pierced in search of intravenous access. In a 25-year-old housepainter, neck paresthesias upon right lateral neck turning were attributed to insufficient strain relief. Treatment-limiting adverse events occurred in approximately one-third of patients. Unanticipated adverse events included misidentification of the wire for intravenous access, clipping of the wire during surgical dissection, and cervical dysesthesias associated with head-turning.


Assuntos
Estimulação Encefálica Profunda/efeitos adversos , Estimulação Encefálica Profunda/instrumentação , Epilepsia/terapia , Nervo Vago , Adolescente , Adulto , Cateterismo Venoso Central/efeitos adversos , Criança , Pré-Escolar , Estudos de Coortes , Eletrodos Implantados/efeitos adversos , Falha de Equipamento , Feminino , Humanos , Masculino , Estudos Retrospectivos
15.
Pediatr Neurol ; 36(4): 253-7, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17437910

RESUMO

This report describes the case of an 11-year-old girl with a prior history of epilepsy and multiple episodes of status epilepticus who presented with generalized convulsive status epilepticus and left hemiclonic seizures. Magnetic resonance imaging, including diffusion-weighted sequences and spectroscopy, and neuropathology at autopsy were consistent with excitotoxic neuronal injury to the hippocampus, cortex, thalamus, mammillary bodies, and cerebellum. Review of the literature revealed 11 similar cases that support the hypothesis of excitotoxic neuronal cell death after status epilepticus.


Assuntos
Encéfalo/patologia , Neurotoxinas/metabolismo , Estado Epiléptico/patologia , Morte Celular , Criança , Imagem de Difusão por Ressonância Magnética , Evolução Fatal , Feminino , Gliose/metabolismo , Gliose/patologia , Humanos , Neurônios/metabolismo , Neurônios/patologia , Estado Epiléptico/metabolismo
16.
Neurology ; 89(9): 893-899, 2017 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-28733343

RESUMO

OBJECTIVE: Although individual neonatal epilepsy syndromes are rare, as a group they represent a sizable subgroup of neonatal seizure etiologies. We evaluated the profile of neonatal epilepsies in a prospective cohort of newborns with seizures. METHODS: Consecutive newborns with seizures were enrolled in the Neonatal Seizure Registry (an association of 7 US children's hospitals). Treatment and diagnostic testing were at the clinicians' discretion. Neonates with seizures related to epileptic encephalopathies (without structural brain abnormalities), brain malformations, or benign familial epilepsies were included in this analysis. RESULTS: Among 611 consecutive newborns with seizures, 79 (13%) had epilepsy (35 epileptic encephalopathy, 32 congenital brain malformations, 11 benign familial neonatal epilepsy [BFNE], 1 benign neonatal seizures). Twenty-nine (83%) with epileptic encephalopathy had genetic testing and 24/29 (83%) had a genetic etiology. Pathogenic or likely pathogenic KCNQ2 variants (n = 10) were the most commonly identified etiology of epileptic encephalopathy. Among 23 neonates with brain malformations who had genetic testing, 7 had putative genetic etiologies. Six infants with BFNE had genetic testing; 3 had pathogenic KCNQ2 variants and 1 had a pathogenic KCNQ3 variant. Comorbid illnesses that predisposed to acute symptomatic seizures occurred in 3/35 neonates with epileptic encephalopathy vs 10/32 with brain malformations (p = 0.03). Death or discharge to hospice were more common among newborns with brain malformations (11/32) than those with epileptic encephalopathy (3/35, p = 0.01). CONCLUSIONS: Neonatal epilepsy is often due to identifiable genetic causes. Genetic testing is now warranted for newborns with epilepsy in order to guide management and inform discussions of prognosis.


Assuntos
Epilepsia/epidemiologia , Encéfalo/anormalidades , Encéfalo/fisiopatologia , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Epilepsia/fisiopatologia , Feminino , Hospitais Pediátricos , Humanos , Recém-Nascido , Canal de Potássio KCNQ2/genética , Canal de Potássio KCNQ3/genética , Masculino , Estudos Prospectivos , Sistema de Registros , Convulsões/diagnóstico por imagem , Convulsões/epidemiologia , Convulsões/genética , Convulsões/fisiopatologia , Centros de Atenção Terciária , Estados Unidos/epidemiologia
17.
Pediatr Neurol ; 72: 19-24, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28558955

RESUMO

BACKGROUND: The purpose of this study was to characterize seizures among preterm neonates enrolled in the Neonatal Seizure Registry, a prospective cohort of consecutive neonates with seizures at seven pediatric centers that follow the American Clinical Neurophysiology Society's neonatal electroencephalography monitoring guideline. STUDY DESIGN: Of 611 enrolled neonates with seizures, 92 (15%) were born preterm. Seizure characteristics were evaluated by gestational age at birth for extremely preterm (<28 weeks, N = 18), very preterm (28 to <32 weeks, N = 18), and moderate to late preterm (32 to <37 weeks, N = 56) and compared with term neonates. RESULTS: Hypoxic-ischemic encephalopathy (33%) and intracranial hemorrhage (27%) accounted for the etiology in more than half of preterm neonates. Hypothermia therapy was utilized in 15 moderate to late preterm subjects with encephalopathy. The presence of subclinical seizures, monotherapy treatment failure, and distribution of seizure burden (including status epilepticus) was similar in preterm and term neonates. However, exclusively subclinical seizures occurred more often in preterm than term neonates (24% vs 14%). Phenobarbital was the most common initial medication for all gestational age groups, and failure to respond to an initial loading dose was 63% in both preterm and term neonates. Mortality was similar among the three preterm gestational age groups; however, preterm mortality was more than twice that of term infants (35% vs 15%). CONCLUSIONS: Subclinical seizures were more common and mortality was higher for preterm than term neonates. These data underscore the importance of electroencephalographic monitoring and the potential for improved management in preterm neonates.


Assuntos
Encéfalo/fisiopatologia , Hipóxia-Isquemia Encefálica/complicações , Hemorragias Intracranianas/complicações , Convulsões/etiologia , Anticonvulsivantes/uso terapêutico , Eletroencefalografia , Feminino , Idade Gestacional , Humanos , Hipóxia-Isquemia Encefálica/fisiopatologia , Recém-Nascido , Recém-Nascido Prematuro , Hemorragias Intracranianas/fisiopatologia , Masculino , Fenobarbital/uso terapêutico , Convulsões/tratamento farmacológico , Convulsões/fisiopatologia
18.
Neuron ; 96(2): 387-401.e6, 2017 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-29024662

RESUMO

Because molecular mechanisms underlying refractory focal epilepsy are poorly defined, we performed transcriptome analysis on human epileptogenic tissue. Compared with controls, expression of Circadian Locomotor Output Cycles Kaput (CLOCK) is decreased in epileptogenic tissue. To define the function of CLOCK, we generated and tested the Emx-Cre; Clockflox/flox and PV-Cre; Clockflox/flox mouse lines with targeted deletions of the Clock gene in excitatory and parvalbumin (PV)-expressing inhibitory neurons, respectively. The Emx-Cre; Clockflox/flox mouse line alone has decreased seizure thresholds, but no laminar or dendritic defects in the cortex. However, excitatory neurons from the Emx-Cre; Clockflox/flox mouse have spontaneous epileptiform discharges. Both neurons from Emx-Cre; Clockflox/flox mouse and human epileptogenic tissue exhibit decreased spontaneous inhibitory postsynaptic currents. Finally, video-EEG of Emx-Cre; Clockflox/flox mice reveals epileptiform discharges during sleep and also seizures arising from sleep. Altogether, these data show that disruption of CLOCK alters cortical circuits and may lead to generation of focal epilepsy.


Assuntos
Encéfalo/metabolismo , Proteínas CLOCK/deficiência , Proteínas CLOCK/genética , Epilepsias Parciais/genética , Epilepsias Parciais/metabolismo , Rede Nervosa/metabolismo , Animais , Encéfalo/patologia , Células Cultivadas , Epilepsias Parciais/patologia , Feminino , Humanos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Rede Nervosa/patologia , Estudos Prospectivos
19.
J Clin Neurophysiol ; 33(5): 376-381, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27749457

RESUMO

Conventional EEG and amplitude-integrated electroencephalography are used in neonates to assess prognosis and significant changes in brain activity. Neuroactive medications and hypothermia can influence brain activity and therefore alter EEG interpretation. There are limited studies on the effect of these therapies on neonatal EEG background activity. Medication effects on the EEG or amplitude-integrated electroencephalography include increased interburst interval duration, voltage suppression, and sleep disruption. The effect is transient in term newborns but can be persistent in premature newborns. Although therapeutic hypothermia does not produce significant changes in EEG activity, it does change the time point at which EEG can accurately predict neurodevelopmental outcome. It is important to account for these effects on the EEG to avoid inaccurate interpretation that may affect prognostication.


Assuntos
Encefalopatias/patologia , Encéfalo/efeitos dos fármacos , Encéfalo/fisiopatologia , Eletroencefalografia , Encefalopatias/terapia , Ondas Encefálicas/efeitos dos fármacos , Ondas Encefálicas/fisiologia , Humanos , Recém-Nascido
20.
J Clin Neurophysiol ; 33(4): 308-11, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27482794

RESUMO

This revision to the EEG Guidelines is an update incorporating current electroencephalography technology and practice and was previously published as Guideline 5. While the 10-10 system of electrode position nomenclature has been accepted internationally for almost two decades, it has not been used universally. The reasons for this and clinical scenarios when the 10-10 system provides additional localizing information are discussed in this revision. In addition, situations in which AF1/2, AF5/6, PO1/2 and PO5/6 electrode positions may be utilized for EEG recording are discussed.


Assuntos
Eletroencefalografia/normas , Neurofisiologia/normas , Guias de Prática Clínica como Assunto/normas , Sociedades Médicas/normas , Eletrodos , Eletroencefalografia/instrumentação , Humanos , Estados Unidos
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