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2.
J Clin Neurophysiol ; 38(2): 112-123, 2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-33661787

RESUMO

SUMMARY: High-density EEG (HD-EEG) recordings use a higher spatial sampling of scalp electrodes than a standard 10-20 low-density EEG montage. Although several studies have demonstrated improved localization of the epileptogenic cortex using HD-EEG, widespread implementation is impeded by cost, setup and interpretation time, and lack of specific or sufficient procedural billing codes. Despite these barriers, HD-EEG has been in use at several institutions for years. These centers have noted utility in a variety of clinical scenarios where increased spatial resolution from HD-EEG has been required, justifying the extra time and cost. We share select scenarios from several centers, using different recording techniques and software, where HD-EEG provided information above and beyond the standard low-density EEG. We include seven cases where HD-EEG contributed directly to current clinical care of epilepsy patients and highlight two novel techniques which suggest potential opportunities to improve future clinical care. Cases illustrate how HD-EEG allows clinicians to: case 1-lateralize falsely generalized interictal epileptiform discharges; case 2-improve localization of falsely generalized epileptic spasms; cases 3 and 4-improve localization of interictal epileptiform discharges in anatomic regions below the circumferential limit of standard low-density EEG coverage; case 5-improve noninvasive localization of the seizure onset zone in lesional epilepsy; cases 6 and 7-improve localization of the seizure onset zone to guide invasive investigation near eloquent cortex; case 8-identify epileptic fast oscillations; and case 9-map language cortex. Together, these nine cases illustrate that using both visual analysis and advanced techniques, HD-EEG can play an important role in clinical management.


Assuntos
Mapeamento Encefálico/métodos , Eletroencefalografia/métodos , Epilepsia/diagnóstico por imagem , Epilepsia/fisiopatologia , Adolescente , Adulto , Idoso , Mapeamento Encefálico/tendências , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/fisiopatologia , Criança , Eletrodos/tendências , Eletroencefalografia/tendências , Feminino , Previsões , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Couro Cabeludo/diagnóstico por imagem , Couro Cabeludo/fisiopatologia , Convulsões/diagnóstico por imagem , Convulsões/fisiopatologia , Adulto Jovem
3.
Epilepsy Behav ; 117: 107884, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33714930

RESUMO

BACKGROUND: Brainstem raphe nucleus (BRN) hypoechogenicity in transcranial sonography (TCS) has been demonstrated in patients with major depression, possibly representing a sonographic manifestation of serotonergic dysfunction in depression. Most patients with epilepsy with comorbid depression exhibit hypoechogenic BRN in TCS. However, the role of BRN in the pathogenesis of epilepsy is unclear. This study aimed to evaluate the correlation of BRN echogenicity with epilepsy itself, and the echogenicity of other midbrain structures and the size of lateral ventricle (LV) will also be evaluated in patients with epilepsy. METHODS: Thirty-six patients with epilepsy without depression and 37 healthy controls were recruited. Sonographic echogenicity of BRN, caudate nucleus (CN), lentiform nucleus (LN), substantia nigra (SN), and the width of frontal horns of the lateral ventricles (LV) and the third ventricle (TV) were evaluated with TCS. The frequency of interictal epileptiform discharges (IEDs) was assessed with ambulatory electroencephalogram (AEEG). RESULTS: Hypoechogenicity of BRN was depicted in 36.1% of patients with epilepsy and 18.9% of controls, showing no significant difference. Patients with epilepsy with BRN hypoechogenicity had higher epileptic discharge index (EDI) than those with normal BRN echogenecity. Especially, higher EDI in patients with BRN hypoechogenicity was observed during the sleep period but not during awake period. The width of TV was significantly larger in patients with epilepsy than that in controls. We did not find any difference between patients with epilepsy and controls in the echogenicity of CN, LN, and SN, as well as in the width of frontal horn of LV. CONCLUSIONS: Hypoechogenic BRN is correlated with a high frequency of epileptic discharges in electroencephalogram (EEG), especially during sleep period but not during awake period, indicating that BRN alterations may play a potential role in the pathogenesis of epilepsy in association with sleep cycle.


Assuntos
Epilepsia , Ultrassonografia Doppler Transcraniana , Tronco Encefálico/diagnóstico por imagem , Eletroencefalografia , Epilepsia/complicações , Epilepsia/diagnóstico por imagem , Humanos , Núcleos da Rafe/diagnóstico por imagem , Ultrassonografia
4.
Nat Commun ; 12(1): 1080, 2021 02 17.
Artigo em Inglês | MEDLINE | ID: mdl-33597538

RESUMO

Clinicians have long been interested in functional brain monitoring, as reversible functional losses often precedes observable irreversible structural insults. By characterizing neonatal functional cerebral networks, resting-state functional connectivity is envisioned to provide early markers of cognitive impairments. Here we present a pioneering bedside deep brain resting-state functional connectivity imaging at 250-µm resolution on human neonates using functional ultrasound. Signal correlations between cerebral regions unveil interhemispheric connectivity in very preterm newborns. Furthermore, fine-grain correlations between homologous pixels are consistent with white/grey matter organization. Finally, dynamic resting-state connectivity reveals a significant occurrence decrease of thalamo-cortical networks for very preterm neonates as compared to control term newborns. The same method also shows abnormal patterns in a congenital seizure disorder case compared with the control group. These results pave the way to infants' brain continuous monitoring and may enable the identification of abnormal brain development at the bedside.


Assuntos
Encéfalo/diagnóstico por imagem , Córtex Cerebral/diagnóstico por imagem , Epilepsia/diagnóstico por imagem , Substância Cinzenta/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Algoritmos , Encéfalo/fisiopatologia , Córtex Cerebral/fisiopatologia , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Feminino , Substância Cinzenta/fisiopatologia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Imagem por Ressonância Magnética/métodos , Masculino , Modelos Neurológicos , Rede Nervosa/diagnóstico por imagem , Rede Nervosa/fisiopatologia , Ultrassonografia Doppler/métodos , Substância Branca/fisiopatologia
5.
AJR Am J Roentgenol ; 216(3): 759-768, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33474983

RESUMO

OBJECTIVE. The purpose of this article is to summarize the role of molecular imaging of the brain by use of SPECT, FDG PET, and non-FDG PET radiotracers in epilepsy. CONCLUSION. Quantitative image analysis with PET and SPECT has increased the diagnostic utility of these modalities in localizing epileptogenic onset zones. A multi-modal platform approach integrating the functional imaging of PET and SPECT with the morphologic information from MRI in presurgical evaluation of epilepsy can greatly improve outcomes.


Assuntos
Encéfalo/diagnóstico por imagem , Epilepsia/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Tomografia Computadorizada de Emissão de Fóton Único , Adolescente , Adulto , Criança , Pré-Escolar , Cisteína/análogos & derivados , Cisteína/farmacocinética , Feminino , Fluordesoxiglucose F18/farmacocinética , Humanos , Masculino , Pessoa de Meia-Idade , Compostos de Organotecnécio/farmacocinética , Oximas/farmacocinética , Compostos Radiofarmacêuticos/farmacocinética
6.
Epilepsy Behav ; 115: 107651, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33309424

RESUMO

It is often difficult to predict seizure recurrence in subjects who have suffered a first-ever epileptic seizure. In this study, the predictive value of physiological signals measured using Electroencephalography (EEG) and functional MRI (fMRI) is assessed. In particular those patients developing epilepsy (i.e. a second unprovoked seizure) that were initially evaluated as having a low risk of seizure recurrence are of interest. In total, 26 epilepsy patients, of which 8 were initially evaluated as having a low risk of seizure recurrence (i.e. converters), and 17 subjects with only a single seizure were included. All subjects underwent routine EEG as well as fMRI measurements. For diagnostic classification, features related to the temporal dynamics were determined for both the processed EEG and fMRI data. Subsequently, a logistic regression classifier was trained on epilepsy and first-seizure subjects. The trained model was tested using the clinically relevant converters group. The sensitivity, specificity, and AUC (mean ±â€¯SD) of the regression model including metrics from both modalities were 74 ±â€¯19%, 82 ±â€¯18%, and 0.75 ±â€¯0.12, respectively. Positive and negative predictive values (mean ±â€¯SD) of the regression model with both EEG and fMRI features are 84 ±â€¯14% and 78 ±â€¯12%. Moreover, this EEG/fMRI model showed significant improvements compared to the clinical diagnosis, whereas the models using metrics from either EEG or fMRI do not reach significance (p > 0.05). Temporal metrics computationally derived from EEG and fMRI time signals may clinically aid and synergistically improve the predictive value in a first-seizure sample.


Assuntos
Eletroencefalografia , Epilepsia , Epilepsia/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Valor Preditivo dos Testes , Convulsões/diagnóstico por imagem
7.
Epilepsy Behav ; 115: 107695, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33348194

RESUMO

OBJECTIVE: Depression is a relatively common comorbidity in people with epilepsy with a lifetime history identified in 1 in 4 individuals. In this paper, we aimed to provide a systematic review of structural and functional brain region-specific group differences of adults with epilepsy and depression and to discuss existing evidence as compared to that in people with depression. METHODS: We undertook a systematic review of neuroimaging studies of depression in adults with epilepsy through MEDLINE/PubMed, Embase and PsycInfo searches until June 2020. RESULTS: A total of 44 studies were included in the qualitative synthesis: 21 on structural neuroimaging, 9 on functional, and 14 on pharmaco/metabolic neuroimaging. Almost all studies focused on temporal lobe epilepsy (TLE). Patterns of changes in the hippocampi and subcortical structures seem to be different from those reported in depression outside epilepsy. Cortical changes are grossly similar as well as the lack of any laterality effect. Serotonin dysfunction seems to be due to different mechanisms with reduced synaptic availability for depression in epilepsy as compared to reduced 5HT1 receptor density outside epilepsy. Depressive symptoms seem to correlate with a dysfunction in temporolimbic structures contralateral to the epileptogenic zone especially in patients with de novo postsurgical depression. CONCLUSIONS: Depression, at least in TLE, seems to be associated with a different pattern of brain changes as compared to major depression, potentially supporting the notion of phenomenological peculiarities of depression in epilepsy.


Assuntos
Epilepsia do Lobo Temporal , Epilepsia , Adulto , Depressão/diagnóstico por imagem , Depressão/etiologia , Epilepsia/complicações , Epilepsia/diagnóstico por imagem , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/diagnóstico por imagem , Hipocampo , Humanos , Imagem por Ressonância Magnética , Neuroimagem
8.
Neurology ; 96(7): 327-341, 2021 02 16.
Artigo em Inglês | MEDLINE | ID: mdl-33361257

RESUMO

Identifying a structural brain lesion on MRI has important implications in epilepsy and is the most important factor that correlates with seizure freedom after surgery in patients with drug-resistant focal onset epilepsy. However, at conventional magnetic field strengths (1.5 and 3T), only approximately 60%-85% of MRI examinations reveal such lesions. Over the last decade, studies have demonstrated the added value of 7T MRI in patients with and without known epileptogenic lesions from 1.5 and/or 3T. However, translation of 7T MRI to clinical practice is still challenging, particularly in centers new to 7T, and there is a need for practical recommendations on targeted use of 7T MRI in the clinical management of patients with epilepsy. The 7T Epilepsy Task Force-an international group representing 21 7T MRI centers with experience from scanning over 2,000 patients with epilepsy-would hereby like to share its experience with the neurology community regarding the appropriate clinical indications, patient selection and preparation, acquisition protocols and setup, technical challenges, and radiologic guidelines for 7T MRI in patients with epilepsy. This article mainly addresses structural imaging; in addition, it presents multiple nonstructural MRI techniques that benefit from 7T and hold promise as future directions in epilepsy. Answering to the increased availability of 7T MRI as an approved tool for diagnostic purposes, this article aims to provide guidance on clinical 7T MRI epilepsy management by giving recommendations on referral, suitable 7T MRI protocols, and image interpretation.


Assuntos
Encéfalo/diagnóstico por imagem , Epilepsia/diagnóstico por imagem , Imagem por Ressonância Magnética , Consenso , Humanos
9.
Neuroimage ; 228: 117652, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33359347

RESUMO

EEG-correlated fMRI analysis is widely used to detect regional BOLD fluctuations that are synchronized to interictal epileptic discharges, which can provide evidence for localizing the ictal onset zone. However, the typical, asymmetrical and mass-univariate approach cannot capture the inherent, higher order structure in the EEG data, nor multivariate relations in the fMRI data, and it is nontrivial to accurately handle varying neurovascular coupling over patients and brain regions. We aim to overcome these drawbacks in a data-driven manner by means of a novel structured matrix-tensor factorization: the single-subject EEG data (represented as a third-order spectrogram tensor) and fMRI data (represented as a spatiotemporal BOLD signal matrix) are jointly decomposed into a superposition of several sources, characterized by space-time-frequency profiles. In the shared temporal mode, Toeplitz-structured factors account for a spatially specific, neurovascular 'bridge' between the EEG and fMRI temporal fluctuations, capturing the hemodynamic response's variability over brain regions. By analyzing interictal data from twelve patients, we show that the extracted source signatures provide a sensitive localization of the ictal onset zone (10/12). Moreover, complementary parts of the IOZ can be uncovered by inspecting those regions with the most deviant neurovascular coupling, as quantified by two entropy-like metrics of the hemodynamic response function waveforms (9/12). Hence, this multivariate, multimodal factorization provides two useful sets of EEG-fMRI biomarkers, which can assist the presurgical evaluation of epilepsy. We make all code required to perform the computations available at https://github.com/svaneynd/structured-cmtf.


Assuntos
Mapeamento Encefálico/métodos , Encéfalo/diagnóstico por imagem , Eletroencefalografia/métodos , Epilepsia/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Adulto , Encéfalo/fisiopatologia , Epilepsia/fisiopatologia , Feminino , Humanos , Interpretação de Imagem Assistida por Computador/métodos , Masculino , Imagem Multimodal/métodos , Acoplamento Neurovascular/fisiologia
10.
Sci Rep ; 10(1): 22319, 2020 12 18.
Artigo em Inglês | MEDLINE | ID: mdl-33339884

RESUMO

Brief thermo-nociceptive stimuli elicit low-frequency phase-locked local field potentials (LFPs) and high-frequency gamma-band oscillations (GBOs) in the human insula. Although neither of these responses constitute a direct correlate of pain perception, previous findings suggest that insular GBOs may be strongly related to the activation of the spinothalamic system and/or to the processing of thermal information. To disentangle these different features of the stimulation, we compared the insular responses to brief painful thermonociceptive stimuli, non-painful cool stimuli, mechano-nociceptive stimuli, and innocuous vibrotactile stimuli, recorded using intracerebral electroencephalograpic activity in 7 epileptic patients (9 depth electrodes, 58 insular contacts). All four types of stimuli elicited consistent low-frequency phase-locked LFPs throughout the insula, possibly reflecting supramodal activity. The latencies of thermo-nociceptive and cool low-frequency phase-locked LFPs were shorter in the posterior insula compared to the anterior insula, suggesting a similar processing of thermal input initiating in the posterior insula, regardless of whether the input produces pain and regardless of thermal modality. In contrast, only thermo-nociceptive stimuli elicited an enhancement of insular GBOs, suggesting that these activities are not simply related to the activation of the spinothalamic system or to the conveyance of thermal information.


Assuntos
Córtex Cerebral/fisiologia , Epilepsia/fisiopatologia , Nociceptividade/fisiologia , Dor/fisiopatologia , Percepção/fisiologia , Adulto , Mapeamento Encefálico , Córtex Cerebral/diagnóstico por imagem , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Potenciais Somatossensoriais Evocados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurociências , Nociceptores/fisiologia , Dor/diagnóstico por imagem , Percepção da Dor/fisiologia , Percepção do Tato/fisiologia , Vibração
11.
Nat Commun ; 11(1): 5240, 2020 10 16.
Artigo em Inglês | MEDLINE | ID: mdl-33067457

RESUMO

Spoken language, both perception and production, is thought to be facilitated by an ensemble of predictive mechanisms. We obtain intracranial recordings in 37 patients using depth probes implanted along the anteroposterior extent of the supratemporal plane during rhythm listening, speech perception, and speech production. These reveal two predictive mechanisms in early auditory cortex with distinct anatomical and functional characteristics. The first, localized to bilateral Heschl's gyri and indexed by low-frequency phase, predicts the timing of acoustic events. The second, localized to planum temporale only in language-dominant cortex and indexed by high-gamma power, shows a transient response to acoustic stimuli that is uniquely suppressed during speech production. Chronometric stimulation of Heschl's gyrus selectively disrupts speech perception, while stimulation of planum temporale selectively disrupts speech production. This work illuminates the fundamental acoustic infrastructure-both architecture and function-for spoken language, grounding cognitive models of speech perception and production in human neurobiology.


Assuntos
Córtex Auditivo/fisiopatologia , Epilepsia/fisiopatologia , Estimulação Acústica , Adulto , Córtex Auditivo/diagnóstico por imagem , Mapeamento Encefálico , Epilepsia/diagnóstico por imagem , Epilepsia/psicologia , Feminino , Humanos , Idioma , Imagem por Ressonância Magnética , Masculino , Fala , Percepção da Fala , Adulto Jovem
12.
Artigo em Russo | MEDLINE | ID: mdl-33095529

RESUMO

OBJECTIVE: Surgery is the first-line treatment option in children with FCD and refractory epilepsy, but the rate of success and patient numbers who became free of seizures vary widely from series to series. STUDY AIMS: To elicit variables affecting the outcome and predicting achievement of the long-term seizure-free status. MATERIAL AND METHODS: One hundred sixty-nine children with cortical dysplasia and DR-epilepsy underwent surgery Preoperative evaluation included prolonged video-EEG and MRI (in all patients) and neuropsychological testing when possible. Fourteen patients underwent invasive EEG, fMRI and MEG were used also in some cases. Including 27 repeat procedures the list of overall 196 surgeries performed consists of: cortectomy (lesionectomy with or without adjacent epileptogenic cortices) ­ in 116 cases; lobectomy ­ in 46; and various disconnective procedures ­ in 34 patients. Almost routinely employed intraoperative ECOG (134 surgeries) was combined with stimulation and/or SSEP in 47 cases to map eloquent cortex (with CST-tracking in some). A new permanent and not anticipated neurological deficit developed post-surgery in 5 cases (2,5%). Patients were follow-upped using video-EEG and MRI and FU which lasts more than 2 years (median ­ 3 years) is known in 56 cases. Thirty-two children were free of seizures at the last check (57,2% rate of Engel IA). A list of variables regarding patients' demography, seizure type, lesion pathology and localization, and those related to surgery and its extent were evaluated to figure out anyone associated with favorable outcome. RESULTS: Both Type II FCDs and their anatomically complete excision are positive predictors for favorable outcome and achievement of SF-status (p<0,05). Residual epileptic activity on immediate post-resection ECOG do not affect the outcome. CONCLUSION: Patients with Type II FCD, particularly with Type IIb malformations are the best candidates for curative surgery, including cases with lesions in brain eloquent areas. Kids with Type I FCD have much less chances to become free of seizures when attempting focal cortectomy. However, some of them with early onset catastrophic epilepsies may benefit from larger surgeries using lobectomy or various disconnections.


Assuntos
Epilepsia , Malformações do Desenvolvimento Cortical , Criança , Epilepsia/diagnóstico por imagem , Epilepsia/cirurgia , Humanos , 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 , Convulsões/cirurgia , Resultado do Tratamento
13.
Artigo em Russo | MEDLINE | ID: mdl-33095530

RESUMO

OBJECTIVE: To analyze the causes of ineffective operations and the results of redo surgery in children with recurrent epileptic seizures. MATERIAL AND METHODS: The results of redo surgery were analyzed in 41 (10.6%) out of 387 children with drug resistant epilepsy treated surgically at the Russian Polenov Neurosurgical Institute for the period from 1994 to 2014. Patients with recurrent epilepsy after temporal resection (n=20), extratemporal resection (n=7), multifocal resection (n=6), callosotomy and stereotaxic destruction (n=8) were selected for analysis. RESULTS: Seizure-free period ranged from early postoperative period to 4 years. According to MRI data, lesions were not completely resected during primary surgery in 23 (56.1%) children. The causes of inefficiency of primary operations were inaccurate identification of epileptic focus in 15 (36.6%) patients; incomplete resection of epileptogenic and / or epileptic foci or incomplete disconnection of paroxysmal activity distribution pathways in 14 (34.1%) cases; epileptic foci de novo in 8 (19.5%) cases; inadequate surgical strategy in 4 (9.8%) patients. Redo surgery usually implied an extended previous resection in 34 (82.9%) patients. Engel I outcome after 3 years was achieved in 41.1% of patients, after 5 years - 38.3%, after 10 years - 36.4%. CONCLUSION: Redo surgery is quite effective and minimally traumatic. Therefore, patients with recurrent epileptic seizures should be considered as candidates for repeated operations if previous interventions turned out to be ineffective.


Assuntos
Epilepsia , Procedimentos Neurocirúrgicos , Criança , Epilepsia/diagnóstico por imagem , Epilepsia/cirurgia , Humanos , Federação Russa , Convulsões , Resultado do Tratamento
14.
Am J Hum Genet ; 107(3): 564-574, 2020 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-32822602

RESUMO

KAT5 encodes an essential lysine acetyltransferase, previously called TIP60, which is involved in regulating gene expression, DNA repair, chromatin remodeling, apoptosis, and cell proliferation; but it remains unclear whether variants in this gene cause a genetic disease. Here, we study three individuals with heterozygous de novo missense variants in KAT5 that affect normally invariant residues, with one at the chromodomain (p.Arg53His) and two at or near the acetyl-CoA binding site (p.Cys369Ser and p.Ser413Ala). All three individuals have cerebral malformations, seizures, global developmental delay or intellectual disability, and severe sleep disturbance. Progressive cerebellar atrophy was also noted. Histone acetylation assays with purified variant KAT5 demonstrated that the variants decrease or abolish the ability of the resulting NuA4/TIP60 multi-subunit complexes to acetylate the histone H4 tail in chromatin. Transcriptomic analysis in affected individual fibroblasts showed deregulation of multiple genes that control development. Moreover, there was also upregulated expression of PER1 (a key gene involved in circadian control) in agreement with sleep anomalies in all of the individuals. In conclusion, dominant missense KAT5 variants cause histone acetylation deficiency with transcriptional dysregulation of multiples genes, thereby leading to a neurodevelopmental syndrome with sleep disturbance, cerebellar atrophy, and facial dysmorphisms, and suggesting a recognizable syndrome.


Assuntos
Atrofia/genética , Doenças Cerebelares/genética , Deficiência Intelectual/genética , Lisina Acetiltransferase 5/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Atrofia/diagnóstico por imagem , Atrofia/fisiopatologia , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/fisiopatologia , Pré-Escolar , Cromatina/genética , Montagem e Desmontagem da Cromatina/genética , Reparo do DNA/genética , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Epilepsia/fisiopatologia , Feminino , Heterozigoto , Histonas/genética , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/fisiopatologia , Masculino , Mutação de Sentido Incorreto/genética , Processamento de Proteína Pós-Traducional/genética
15.
Epilepsia ; 61(7): e71-e78, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32645220

RESUMO

Fibroblast growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates neuronal sodium channel gating. We aim to refine the electroclinical phenotypic spectrum of patients with pathogenic FHF1 variants. We retrospectively collected clinical, genetic, neurophysiologic, and neuroimaging data of 17 patients with FHF1-DEE. Sixteen patients had recurrent heterozygous FHF1 missense variants: 14 had the recurrent p.Arg114His variant and two had a novel likely pathogenic variant p.Gly112Ser. The p.Arg114His variant is associated with an earlier onset and more severe phenotype. One patient carried a chromosomal microduplication involving FHF1. Twelve patients carried a de novo variant, five (29.5%) inherited from parents with gonadic or somatic mosaicism. Seizure onset was between 1 day and 41 months; in 76.5% it was within 30 days. Tonic seizures were the most frequent seizure type. Twelve patients (70.6%) had drug-resistant epilepsy, 14 (82.3%) intellectual disability, and 11 (64.7%) behavioral disturbances. Brain magnetic resonance imaging (MRI) showed mild cerebral and/or cerebellar atrophy in nine patients (52.9%). Overall, our findings expand and refine the clinical, EEG, and imaging phenotype of patients with FHF1-DEE, which is characterized by early onset epilepsy with tonic seizures, associated with moderate to severe ID and psychiatric features.


Assuntos
Encefalopatias/genética , Epilepsia/genética , Fatores de Crescimento de Fibroblastos/genética , Deficiência Intelectual/genética , Fenótipo , Adolescente , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Encefalopatias/diagnóstico por imagem , Encefalopatias/fisiopatologia , Criança , Pré-Escolar , Eletroencefalografia/métodos , Epilepsia/diagnóstico por imagem , Epilepsia/fisiopatologia , Feminino , Humanos , Lactente , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/fisiopatologia , Masculino , Estudos Retrospectivos , Adulto Jovem
16.
Neurology ; 95(9): e1236-e1243, 2020 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-32611640

RESUMO

OBJECTIVE: To assess the prevalence of brain MRI abnormalities in people with epilepsy in rural China and to compare it with that of individuals in the United Kingdom. METHODS: Brain MRI scans were obtained in people with epilepsy who participated in a rural community-based program in China between July 2010 and December 2012. Individual epileptogenic lesion types were reviewed and their associations with seizure control examined. The MRI findings were compared with 2 previous similar studies in the United Kingdom. RESULTS: Among the 597 individuals (58% male, median age 38 years) with MRI scans analyzed, 488 (82%) had active epilepsy. The MRI was abnormal in 389 individuals (65%), with potentially epileptogenic lesion in 224 (38%) and nonspecific abnormalities in 165 (28%), and 108 (18%) were potentially resectable. The potentially epileptogenic lesions were less frequently detected in children (<18 years old, 12 of 68, 18%) than in adults (212 of 529, 40%; p < 0.001). In people with potentially epileptogenic lesions, 67% (150 of 224) had failed ≥2 antiseizure medications. They had higher risk of uncontrolled epilepsy than those with normal MRI (risk ratio [RR] 1.25; p < 0.001) and those with nonspecific abnormality (RR 1.15; p = 0.002) after adjustment for age and sex. The diagnostic yield of MRI was similar to that reported in community- and hospital-based studies in the United Kingdom. CONCLUSIONS: More than one-third of people with chronic epilepsy in rural China have potentially epileptogenic lesions identifiable on brain MRI, with two-thirds fulfilling the definition of pharmacoresistance. These findings highlight the magnitude of the unmet needs for epilepsy surgery in China.


Assuntos
Encefalomalacia/epidemiologia , Epilepsia/epidemiologia , Gliose/epidemiologia , Malformações do Sistema Nervoso/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/epidemiologia , Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Malformações Vasculares do Sistema Nervoso Central/epidemiologia , Criança , Pré-Escolar , China/epidemiologia , Epilepsia Resistente a Medicamentos , Encefalomalacia/diagnóstico por imagem , Epilepsia/diagnóstico por imagem , Feminino , Gliose/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Malformações do Sistema Nervoso/diagnóstico por imagem , Prevalência , População Rural , Esclerose , Lobo Temporal/diagnóstico por imagem , Lobo Temporal/patologia , Reino Unido/epidemiologia , Adulto Jovem
17.
Nat Commun ; 11(1): 3075, 2020 06 17.
Artigo em Inglês | MEDLINE | ID: mdl-32555174

RESUMO

The processing steps that lead up to a decision, i.e., the transformation of sensory evidence into motor output, are not fully understood. Here, we combine stereoEEG recordings from the human cortex, with single-lead and time-resolved decoding, using a wide range of temporal frequencies, to characterize decision processing during a rule-switching task. Our data reveal the contribution of rostral inferior parietal lobule (IPL) regions, in particular PFt, and the parietal opercular regions in decision processing and demonstrate that the network representing the decision is common to both task rules. We reconstruct the sequence in which regions engage in decision processing on single trials, thereby providing a detailed picture of the network dynamics involved in decision-making. The reconstructed timeline suggests that the supramarginal gyrus in IPL links decision regions in prefrontal cortex with premotor regions, where the motor plan for the response is elaborated.


Assuntos
Tomada de Decisões , Eletroencefalografia , Lobo Parietal/fisiologia , Adulto , Mapeamento Encefálico , Análise por Conglomerados , Cognição , Análise Discriminante , Eletrodos , Epilepsia/diagnóstico por imagem , Epilepsia/fisiopatologia , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Masculino , Rede Nervosa/fisiologia , Processamento de Sinais Assistido por Computador , Análise de Ondaletas , Adulto Jovem
18.
J Neuroimmunol ; 345: 577268, 2020 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-32480242

RESUMO

We report six patients with anti-LGI1 associated epilepsy. Two patients presented with new-onset generalized tonic-clonic seizures, four developed faciobrachial dystonic seizures and two piloerection. All patients had significant cognitive complaints at the time of diagnosis. All patients described seizure reduction during the first week of carbamazepine, and seizure freedom was obtained at a median of 13 days (range 7-22), sustained after the initiation of immunosuppression. Median time from symptom onset to carbamazepine initiation was 164 days (range 38-206 days). We discuss the particular seizure response to sodium channel blocking antiepileptic drugs, alone or associated with immunosuppression in this antibody mediated seizures.


Assuntos
Assistência Ambulatorial/métodos , Anticonvulsivantes/uso terapêutico , Autoanticorpos/sangue , Epilepsia/sangue , Epilepsia/tratamento farmacológico , Peptídeos e Proteínas de Sinalização Intracelular/sangue , Adulto , Idoso , Carbamazepina/uso terapêutico , Epilepsia/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pacientes Ambulatoriais , Estudos Prospectivos , Resultado do Tratamento
19.
Rev. esp. med. nucl. imagen mol. (Ed. impr.) ; 39(3): 184-192, mayo-jun. 2020. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-198273

RESUMO

La inclusión de la PET 18F-FDG como biomarcador en los criterios de diagnóstico clínico de enfermedades neurodegenerativas y su indicación en el estudio precirugía en la epilepsia resistente a los fármacos permiten mejorar la especificidad del diagnóstico. La interpretación clásica de los estudios PET neurológicos se ha abordado de forma cualitativa, aunque en la última década hemos sido testigos del auge en los sistemas de evaluación cuantitativa. Este desarrollo técnico es de vital importancia en la práctica clínica, ya que mejora la especificidad y la reproducibilidad y reduce el efecto dependiente del observador derivado del análisis visual. Consideramos que es conveniente exponer la complejidad de las técnicas de procesamiento de imagen empleadas, lo que permitirá al especialista en Medicina Nuclear conocer sus ventajas e inconvenientes a la hora de incluirlas en la práctica clínica diaria


The inclusion of 18F-FDG PET as a biomarker in the diagnostic criteria of neurodegenerative diseases and its indication in the presurgical assessment for drug-resistant epilepsies allow to improve specificity of these diagnosis. The traditional interpretation of neurological PET studies has been performed qualitatively, although in the last decade, several quantitative evaluation methods have emerged. This technical development has become relevant in clinical practice, improving specificity, reproducibility and reducing the interrater reliability derived from visual analysis. In this article we update/review the main imaging processing techniques currently used. This may allow the Nuclear Medicine physician to know their advantages and disadvantages when including these procedures in daily clinical practice


Assuntos
Humanos , Cérebro/diagnóstico por imagem , Doenças Neurodegenerativas/diagnóstico por imagem , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons/métodos , Fluordesoxiglucose F18/administração & dosagem , Biomarcadores/análise , Compostos Radiofarmacêuticos/administração & dosagem , Transtornos dos Movimentos/diagnóstico por imagem , Demência/diagnóstico por imagem , Epilepsia/diagnóstico por imagem , Diagnóstico Diferencial
20.
Radiología (Madr., Ed. impr.) ; 62(3): 243-247, mayo-jun. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-194222

RESUMO

El angioma cavernoso (AC) es una malformación vascular cerebral, generalmente congénita, cuya historia natural se caracteriza por ser dinámica. La hemorragia es el fenómeno evolutivo más común del AC, puede ocasionar importantes fluctuaciones del tamaño de la lesión e incluso provocar su desaparición. El objetivo de este artículo es comunicar el comportamiento evolutivo observado en un AC en el que pudo documentarse: a) su aparición de novo, un hecho muy infrecuente y b) una evolución radiológica, de crecimiento progresivo, a modo de lesión expansiva, pese a no traducir empeoramiento clínico. En la evolución por resonancia magnética (RM), la presentación de signos radiológicos atípicos puede orientar el diagnóstico etiológico de AC frente a otros alternativos: aparición de novo, nivel líquido-líquido o hidroaéreo, anillo hipointenso incompleto de hemosiderina, crecimiento seudotumoral, forma seudoquística o multiloculada, edema vasogénico, efecto de masa y tamaño mayor de 3 cm


Cavernous angiomas are cerebral vascular malformations that are usually congenital. These lesions are characterized as dynamic. The most common phenomenon in the course of these lesions is bleeding, which can result in significant fluctuations in their size and even lead to their disappearance. This article aims to describe the behavior of a cavernous angioma in its natural history, documenting: a) its de novo appearance, a very uncommon observation, and b) its changes on imaging studies, where it grew progressively like an expanding lesion but had no clinical repercussions. On magnetic resonance imaging, atypical signs can orient the etiological diagnosis of cavernous angioma versus other alternatives: de novo appearance, fluid-fluid or air-fluid level, incomplete hypointense ring due to hemosiderin deposition, pseudotumor-like growth, pseudocyst-like or multiloculated shape, vasogenic edema, mass effect, and size greater than 3 cm


Assuntos
Humanos , Masculino , Adulto , Hemangioma Cavernoso/diagnóstico por imagem , Epilepsia/diagnóstico por imagem , Hemangioma Cavernoso/patologia , Imagem por Ressonância Magnética , Epilepsia/complicações , Angiografia
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