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1.
Sci Rep ; 12(1): 1798, 2022 02 02.
Artigo em Inglês | MEDLINE | ID: mdl-35110665

RESUMO

Interictal High Frequency Oscillations (HFO) are measurable in scalp EEG. This development has aroused interest in investigating their potential as biomarkers of epileptogenesis, seizure propensity, disease severity, and treatment response. The demand for therapy monitoring in epilepsy has kindled interest in compact wearable electronic devices for long-term EEG recording. Spiking neural networks (SNN) have emerged as optimal architectures for embedding in compact low-power signal processing hardware. We analyzed 20 scalp EEG recordings from 11 pediatric focal lesional epilepsy patients. We designed a custom SNN to detect events of interest (EoI) in the 80-250 Hz ripple band and reject artifacts in the 500-900 Hz band. We identified the optimal SNN parameters to detect EoI and reject artifacts automatically. The occurrence of HFO thus detected was associated with active epilepsy with 80% accuracy. The HFO rate mirrored the decrease in seizure frequency in 8 patients (p = 0.0047). Overall, the HFO rate correlated with seizure frequency (rho = 0.90 CI [0.75 0.96], p < 0.0001, Spearman's correlation). The fully automated SNN detected clinically relevant HFO in the scalp EEG. This study is a further step towards non-invasive epilepsy monitoring with a low-power wearable device.


Assuntos
Ondas Encefálicas , Encéfalo/fisiopatologia , Epilepsia Resistente a Medicamentos/diagnóstico , Eletroencefalografia , Epilepsias Parciais/diagnóstico , Redes Neurais de Computação , Processamento de Sinais Assistido por Computador , Adolescente , Artefatos , Encéfalo/cirurgia , Criança , Pré-Escolar , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsia Resistente a Medicamentos/cirurgia , Eletroencefalografia/instrumentação , Epilepsias Parciais/fisiopatologia , Epilepsias Parciais/cirurgia , Feminino , Humanos , Lactente , Masculino , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Fatores de Tempo , Resultado do Tratamento , Dispositivos Eletrônicos Vestíveis
2.
Clin Neurophysiol ; 134: 88-99, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34991017

RESUMO

OBJECTIVE: We hypothesized that spatio-temporal dynamics of interictal spikes reflect the extent and stability of epileptic sources and determine surgical outcome. METHODS: We studied 30 consecutive patients (14 good outcome). Spikes were detected in prolonged stereo-electroencephalography recordings. We quantified the spatio-temporal dynamics of spikes using the variance of the spike rate, line length and skewness of the spike distribution, and related these features to outcome. We built a logistic regression model, and compared its performance to traditional markers. RESULTS: Good outcome patients had more dominant and stable sources than poor outcome patients as expressed by a higher variance of spike rates, a lower variance of line length, and a lower variance of positive skewness (ps < 0.05). The outcome was correctly predicted in 80% of patients. This was better or non-inferior to predictions based on a focal lesion (p = 0.016), focal seizure-onset zone, or complete resection (ps > 0.05). In the five patients where traditional markers failed, spike distribution predicted the outcome correctly. The best results were achieved by 18-h periods or longer. CONCLUSIONS: Analysis of spike dynamics shows that surgery outcome depends on strong, single and stable sources. SIGNIFICANCE: Our quantitative method has the potential to be a reliable predictor of surgical outcome.


Assuntos
Ondas Encefálicas/fisiologia , Encéfalo/fisiopatologia , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsias Parciais/fisiopatologia , Adulto , Encéfalo/cirurgia , Mapeamento Encefálico , Epilepsia Resistente a Medicamentos/cirurgia , Eletroencefalografia , Epilepsias Parciais/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Neurológicos , Procedimentos Neurocirúrgicos , Prognóstico , Resultado do Tratamento , Adulto Jovem
3.
Neuroimage ; 250: 118932, 2022 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-35085763

RESUMO

Brain regions located between the right fusiform face area (FFA) in the middle fusiform gyrus and the temporal pole may play a critical role in human face identity recognition but their investigation is limited by a large signal drop-out in functional magnetic resonance imaging (fMRI). Here we report an original case who is suddenly unable to recognize the identity of faces when electrically stimulated on a focal location inside this intermediate region of the right anterior fusiform gyrus. The reliable transient identity recognition deficit occurs without any change of percept, even during nonverbal face tasks (i.e., pointing out the famous face picture among three options; matching pictures of unfamiliar or familiar faces for their identities), and without difficulty at recognizing visual objects or famous written names. The effective contact is associated with the largest frequency-tagged electrophysiological signals of face-selectivity and of familiar and unfamiliar face identity recognition. This extensive multimodal investigation points to the right anterior fusiform gyrus as a critical hub of the human cortical face network, between posterior ventral occipito-temporal face-selective regions directly connected to low-level visual cortex, the medial temporal lobe involved in generic memory encoding, and ventral anterior temporal lobe regions holding semantic associations to people's identity.


Assuntos
Epilepsias Parciais/fisiopatologia , Epilepsias Parciais/cirurgia , Reconhecimento Facial , Imageamento por Ressonância Magnética/métodos , Lobo Temporal/fisiopatologia , Adulto , Estimulação Elétrica , Epilepsias Parciais/diagnóstico , Humanos , Masculino
4.
J Hum Genet ; 67(2): 79-85, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34376795

RESUMO

NPRL2 (nitrogen permease regulator like 2) is a component of the GATOR1(GAP activity towards rags complex 1) proteins, which is an inhibitor of the amino acid-sensing branch of the mTORC1 pathway. GATOR1 complex variations were reported to correlate with familial focal epilepsy with variable foci (FFEVF). However, FFEVF caused by NPRL2 variants has not been widely explored. Here, we describe a variant, 339+2T>C, in NPRL2 identified by trio whole-exome sequencing (WES) in a family. This splicing variant that occurred at the 5' end of exon 3 was confirmed by minigene assays, which affected alternative splicing and led to exon 3 skipping in NPRL2. Our cases presented multiple seizure types (febrile seizures, infantile spasms, focal seizures, or focal to generalized tonic-clonic seizures). Electroencephalogram (EEG) showed frequent discharges in the left frontal and central regions. A favorable prognosis was achieved in response to vitamin B6 and topiramate when the patient was seven months old. Our study expands the phenotype and genotype spectrum of FFEVF and provides solid diagnostic evidence for FFEVF.


Assuntos
Epilepsias Parciais/genética , Mutação , Splicing de RNA , Proteínas Supressoras de Tumor/genética , Sequência de Aminoácidos , Sequência de Bases , Eletroencefalografia/métodos , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/fisiopatologia , Saúde da Família , Feminino , Células HEK293 , Células HeLa , Humanos , Lactente , Masculino , Linhagem , Conformação Proteica , Homologia de Sequência de Aminoácidos , Proteínas Supressoras de Tumor/química , Proteínas Supressoras de Tumor/metabolismo , Sequenciamento Completo do Exoma/métodos
5.
Clin Neurophysiol ; 133: 94-103, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34826646

RESUMO

OBJECTIVE: Amygdala enlargement is increasingly described in association with temporal lobe epilepsies. Its significance, however, remains uncertain both in terms of etiology and its link with psychiatric disorders and of its involvement in the epileptogenic zone. We assessed the epileptogenic networks underlying drug-resistant epilepsy with amygdala enlargement and investigated correlations between clinical features, epileptogenicity and morphovolumetric amygdala characteristics. METHODS: We identified 12 consecutive patients suffering from drug-resistant epilepsy with visually suspected amygdala enlargement and available stereoelectroencephalographic recording. The epileptogenic zone was defined using the Connectivity Epileptogenicity Index. Morphovolumetric measurements were performed using automatic segmentation and co-registration on the 7TAMIbrain Amygdala atlas. RESULTS: The epileptogenic zone involved the enlarged amygdala in all but three cases and corresponded to distributed, temporal-insular, temporal-insular-prefrontal or prefrontal-temporal networks in ten cases, while only two were temporo-mesial networks. Morphovolumetrically, amygdala enlargement was bilateral in 75% of patients. Most patients presented psychiatric comorbidities (anxiety, depression, posttraumatic stress disorder). The level of depression defined by screening questionnaire was positively correlated with the extent of amygdala enlargement. CONCLUSIONS: Drug-resistant epilepsy with amygdala enlargement is heterogeneous; most cases implied "temporal plus" networks. SIGNIFICANCE: The enlarged amygdala could reflect an interaction of stress-mediated limbic network alterations and mechanisms of epileptogenesis.


Assuntos
Tonsila do Cerebelo/fisiopatologia , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsias Parciais/fisiopatologia , Rede Nervosa/fisiopatologia , Adolescente , Adulto , Tonsila do Cerebelo/diagnóstico por imagem , Mapeamento Encefálico , Criança , Pré-Escolar , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Eletroencefalografia , Epilepsias Parciais/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Rede Nervosa/diagnóstico por imagem , Adulto Jovem
6.
Epileptic Disord ; 24(1): 183-190, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-34789444

RESUMO

Mutations in the ATP1A3 gene (which encodes the main α subunit in neuronal Na+/K+-ATPases) cause various neurological syndromes including alternating hemiplegia of childhood. This rare disorder is characterized by paroxysmal episodes of hemiplegia, dystonia, oculomotor abnormalities, and occasionally developmental regression. Approximately 50% of alternating hemiplegia of childhood patients also have epilepsy, which is either focal or generalized. Seizures are often drug resistant. We report a 10-year-old girl with the D801N ATP1A3 mutation and alternating hemiplegia of childhood who manifested with drug-resistant focal seizures as an infant and throughout childhood. At the age of about10.5 years, her epilepsy evolved into electrical status epilepticus in sleep with generalized discharges. These changes coincided with developmental regression consistent with epileptic encephalopathy. Additionally, MRI and MR spectroscopy showed new cortical atrophy and markedly depressed N-acetyl aspartate peaks compared to previous normal studies. Electrical status epilepticus in sleep resolved after medication adjustments. She, now, only four months after her diagnosis of electrical status epilepticus in sleep, has regained most of the skills that were lost only a few months earlier. Our observations document that alternating hemiplegia of childhood can result in the above-described unique features; particularly, progression of focal epilepsy to electrical status epilepticus in sleep with generalized features and reversible epileptic encephalopathy.


Assuntos
Epilepsias Parciais , Epilepsia Generalizada , Hemiplegia , Sono , Estado Epiléptico , Criança , Progressão da Doença , Epilepsias Parciais/genética , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatologia , Feminino , Hemiplegia/genética , Hemiplegia/fisiopatologia , Humanos , Mutação , Sono/fisiologia , ATPase Trocadora de Sódio-Potássio/genética , Estado Epiléptico/genética , Estado Epiléptico/fisiopatologia
7.
Epileptic Disord ; 24(1): 133-139, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-34782306

RESUMO

OBJECTIVE: The postictal state after bilateral tonic-clonic seizures is often prolonged and can have significant impact on a patient's quality of life. Considerable variability exists in the magnitude of postictal agitation and in the speed of recovery, the determinants of which are not well understood. We studied postictal behavior after tonic-clonic seizures in various epilepsy localizations, focusing on postictal agitation and time to responsiveness. METHODS: We retrospectively identified 15 adult patients each with idiopathic generalized, left temporal lobe, right temporal lobe and frontal lobe epilepsy. Localization in focal epilepsy was validated by good outcome after resective surgery at one-year of follow-up. The first tonic-clonic seizure with reliable video and EEG for each patient was analyzed by two reviewers, one of whom was blinded to clinical data. Clinical, ictal and postictal variables were collected for each patient and analyzed. Postictal agitation was classified as mild and marked. RESULTS: We reviewed 60 tonic-clonic seizures, 15 in each of four patient groups. Postictal agitation was observed in 14 patients (23.3%; marked in one and mild in 13). Postictal agitation was most common in patients with left temporal (seven patients) and least common in idiopathic generalized epilepsy (one patient) groups (p=0.035). Based on subgroup analysis (n=28), time to responsiveness was 6.6 minutes for frontal, 7.2 minutes for generalized, 10 minutes for right temporal and 15.7 minutes for the left temporal groups (p<0.05 for frontal vs. left temporal, generalized vs. left temporal). Time to responsiveness was longer in patients with agitation than without (13.9 minutes vs. 7.7 minutes; p=0.048). Patient ictal and postictal characteristics demonstrated no relationship to agitation or latency to postictal recovery. SIGNIFICANCE: To mitigate harm, patients must be monitored carefully after tonic-clonic seizures, especially patients with left temporal lobe epilepsy. Studies evaluating medical and behavioral interventions to promote postictal recovery are needed.


Assuntos
Epilepsias Parciais , Epilepsia Generalizada , Convulsões , Adulto , Eletroencefalografia , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/fisiopatologia , Humanos , Agitação Psicomotora , Recuperação de Função Fisiológica , Estudos Retrospectivos , Convulsões/fisiopatologia
8.
Clin Neurophysiol ; 134: 1-8, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34922194

RESUMO

OBJECTIVE: Phase-amplitude coupling between high-frequency (≥150 Hz) and delta (3-4 Hz) oscillations - modulation index (MI) - is a promising, objective biomarker of epileptogenicity. We determined whether sevoflurane anesthesia preferentially enhances this metric within the epileptogenic zone. METHODS: This is an observational study of intraoperative electrocorticography data from 621 electrodes chronically implanted into eight patients with drug-resistant, focal epilepsy. All patients were anesthetized with sevoflurane during resective surgery, which subsequently resulted in seizure control. We classified 'removed' and 'retained' brain sites as epileptogenic and non-epileptogenic, respectively. Mixed model analysis determined which anesthetic stage optimized MI-based classification of epileptogenic sites. RESULTS: MI increased as a function of anesthetic stage, ranging from baseline (i.e., oxygen alone) to 2.0 minimum alveolar concentration (MAC) of sevoflurane, preferentially at sites showing higher initial MI values. This phenomenon was accentuated just prior to sevoflurane reaching 2.0 MAC, at which time, the odds of a site being classified as epileptogenic were enhanced by 86.6 times for every increase of 1.0 MI. CONCLUSIONS: Intraoperative MI best localized the epileptogenic zone immediately before sevoflurane reaching 2.0 MAC in this small cohort of patients. SIGNIFICANCE: Prospective, large cohort studies are warranted to determine whether sevoflurane anesthesia can reduce the need for extraoperative, invasive evaluation.


Assuntos
Anestésicos Inalatórios/administração & dosagem , Ondas Encefálicas/efeitos dos fármacos , Encéfalo/efeitos dos fármacos , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsias Parciais/fisiopatologia , Sevoflurano/administração & dosagem , Adolescente , Anestesia Geral , Encéfalo/fisiopatologia , Encéfalo/cirurgia , Ondas Encefálicas/fisiologia , Criança , Pré-Escolar , Epilepsia Resistente a Medicamentos/cirurgia , Eletrocorticografia , Epilepsias Parciais/cirurgia , Humanos , Procedimentos Neurocirúrgicos , Estudos Prospectivos , Adulto Jovem
9.
Clin Neurophysiol ; 132(12): 3002-3009, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34715425

RESUMO

OBJECTIVE: To assess whether hippocampal spindles and barques are markers of epileptogenicity. METHODS: Focal epilepsy patients that underwent stereo-electroencephalography implantation with at least one electrode in their hippocampus were selected (n = 75). The occurrence of spindles and barques in the hippocampus was evaluated in each patient. We created pairs of pathologic and pathology-free groups according to two sets of criteria: 1. Non-invasive diagnostic criteria (patients grouped according to focal epilepsy classification). 2. Intracranial neurophysiological criteria (patient's hippocampi grouped according to their seizure onset involvement). RESULTS: Hippocampal spindles and barques appear equally often in both pathologic and pathology-free groups, both for non-invasive (Pspindles = 0.73; Pbarques = 0.46) and intracranial criteria (Pspindles = 0.08; Pbarques = 0.26). In Engel Class I patients, spindles occurred with similar incidence both within the non-invasive (P = 0.67) and the intracranial criteria group (P = 0.20). Barques were significantly more frequent in extra-temporal lobe epilepsy defined by either non-invasive (P = 0.01) or intracranial (P = 0.01) criteria. CONCLUSIONS: Both spindles and barques are normal entities of the hippocampal intracranial electroencephalogram. The presence of barques may also signify lack of epileptogenic properties in the hippocampus. SIGNIFICANCE: Understanding that hippocampal spindles and barques do not reflect epileptogenicity is critical for correct interpretation of epilepsy surgery evaluations and appropriate surgical treatment selection.


Assuntos
Ondas Encefálicas/fisiologia , Epilepsias Parciais/fisiopatologia , Epilepsia do Lobo Temporal/fisiopatologia , Hipocampo/fisiopatologia , Adulto , Eletrocorticografia , Epilepsias Parciais/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Feminino , Hipocampo/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
11.
J Neurophysiol ; 126(5): 1614-1621, 2021 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-34550020

RESUMO

Decelerated resting cortical oscillations, high-frequency activity, and enhanced cross-frequency interactions are features of focal epilepsy. The association between electrophysiological signal properties and neurocognitive function, particularly following resective surgery, is, however, unclear. In the current report, we studied intraoperative recordings from intracranial electrodes implanted in seven children with focal epilepsy and analyzed the spectral dynamics both before and after surgical resection of the hypothesized seizure focus. The associations between electrophysiological spectral signatures and each child's neurocognitive profiles were characterized using a partial least squares analysis. We find that extent of spectral alteration at the periphery of surgical resection, as indexed by slowed resting frequency and its acceleration following surgery, is associated with baseline cognitive deficits in children. The current report provides evidence supporting the relationship between altered spectral properties in focal epilepsy and neuropsychological deficits in children. In particular, these findings suggest a critical role of disrupted thalamocortical rhythms, which are believed to underlie the spectral alterations we describe, in both epileptogenicity and neurocognitive function.NEW & NOTEWORTHY Spectral alterations marked by decelerated resting oscillations and ectopic high-frequency activity have been noted in focal epilepsy. We leveraged intraoperative recordings from chronically implanted electrodes pre- and postresection to understand the association between these electrophysiological phenomena and neuropsychological function. We find that the extent of spectral alteration, indexed by slowed resting frequency and its acceleration following resection, is associated with baseline cognitive deficits. These findings provide novel insights into neurocognitive impairments in focal epilepsy.


Assuntos
Ondas Encefálicas/fisiologia , Disfunção Cognitiva/fisiopatologia , Eletrocorticografia , Epilepsias Parciais/fisiopatologia , Epilepsias Parciais/cirurgia , Monitorização Neurofisiológica Intraoperatória , Biomarcadores , Criança , Disfunção Cognitiva/etiologia , Epilepsias Parciais/complicações , Humanos , Procedimentos Neurocirúrgicos , Resultado do Tratamento
12.
Pediatr Neurol ; 123: 1-9, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34343869

RESUMO

BACKGROUND: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population. METHODS: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups. RESULTS: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months. CONCLUSIONS: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. Early and aggressive treatments for epilepsy in TSC may be best leveraged by targeting specific subgroups based on phenotype severity.


Assuntos
Epilepsia/etiologia , Epilepsia/fisiopatologia , Esclerose Tuberosa/complicações , Idade de Início , Pré-Escolar , Epilepsias Parciais/etiologia , Epilepsias Parciais/fisiopatologia , Feminino , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Espasmos Infantis/etiologia , Espasmos Infantis/fisiopatologia
13.
Rev Neurol ; 73(2): 77-79, 2021 Jul 16.
Artigo em Espanhol | MEDLINE | ID: mdl-34254663

RESUMO

INTRODUCTION: Encephaloceles are herniation of brain parenchyma through a bony skull defect that can cause drug-resistant epilepsy. In these cases, a surgical approach should be considered. CASE REPORT: 38-year-old man with drug-resistant epilepsy and 1.5 T magnetic resonance imaging performed with no relevant findings. After video-electroencephalogram, 3 T magnetic resonance imaging and F-18-fluoro-deoxy-glucose positron emission tomography, a right temporal encephalocele was confirmed. A right temporal polar resection was performed four years ago and the patient remains seizure-free. DISCUSSION: Anterior temporal encephaloceles are an underdiagnosed cause of epilepsy, and a 3 T magnetic resonance imaging reviewed by an epilepsy expert radiologists is key to diagnosis. CONCLUSION: In drug-resistant cases with presurgical evaluation compatible with the location, surgical treatment must be considered.


TITLE: Encefalocele del polo temporal: una causa tratable quirúrgicamente de epilepsia farmacorresistente.Introducción. Los encefaloceles son herniaciones del parénquima cerebral consecuencia de un defecto óseo. Si producen epilepsia farmacorresistente, hay que plantearse un abordaje quirúrgico. Caso clínico. Varón de 38 años con epilepsia farmacorresistente y estudio estándar de resonancia magnética de 1,5 T sin hallazgos. Tras realizar un videoelectroencefalograma, una resonancia magnética de 3 T y una tomografía por emisión de positrones con fluorodesoxiglucosa, se confirmó la presencia de un encefalocele del polo temporal derecho. Se efectuó una resección de ese polo temporal y cuatro años después el paciente continúa libre de crisis. Discusión. Los encefaloceles temporales anteriores constituyen una causa infradiagnosticada de epilepsia en cuyo estudio es clave la resonancia magnética de 3 T y la evaluación por un radiólogo experimentado en epilepsia. Conclusión. En casos farmacorresistentes y evaluación prequirúrgica de la epilepsia congruente con la localización, hay que considerar su tratamiento quirúrgico.


Assuntos
Epilepsia Resistente a Medicamentos/cirurgia , Encefalocele/cirurgia , Epilepsias Parciais/cirurgia , Adulto , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/etiologia , Epilepsia Resistente a Medicamentos/fisiopatologia , Eletroencefalografia , Encefalocele/complicações , Encefalocele/diagnóstico por imagem , Epilepsias Parciais/diagnóstico por imagem , Epilepsias Parciais/etiologia , Epilepsias Parciais/fisiopatologia , Radioisótopos de Flúor , Fluordesoxiglucose F18 , Humanos , Imageamento Tridimensional , Imageamento por Ressonância Magnética/instrumentação , Masculino , Neuroimagem , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X
14.
Clin Neurophysiol ; 132(9): 2146-2151, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34284250

RESUMO

OBJECTIVE: To identify cortical correlates of scalp small sharp spikes (SSS) using simultaneous scalp and intracranial EEG recordings. METHODS: Patients were retrospectively evaluated based on a database of intracranial long-term recordings at the Epilepsy Center Freiburg. Inclusion criteria were: simultaneous recordings with intracranial and scalp EEGs and the presence of at least five unequivocal SSS in the scalp EEG. Intracranial recordings were analyzed regarding the co-occurring intracranial potentials during scalp SSS. RESULTS: 33 patients, aged 9-60y, 17 females, fulfilled the above-mentioned criteria. Almost all patients had intracranial SSS correlates in the form of spike/polyspike-waves in the temporal lobe, predominantly in the hippocampus (24/28), less frequently involving the amygdala (5/29), temporal basal (3/18), lateral neocortical (4/32), entorhinal cortices (1/12), and the parietal lobe (2/13). Amplitudes of intrahippocampal spikes or polyspikes co-occurring with SSS were significantly higher than intracranial discharges without scalp correlates. In 45% of patients, intracranial spikes accompanying SSS were located within the seizure onset zone (SOZ). CONCLUSIONS: Our results strongly support an epileptic origin of SSS and provide evidence about their heterogenous generators. SIGNIFICANCE: This study suggests that SSS cannot with certainty be classified as "benign" but rather considered as one of the EEG manifestations of focal epilepsy.


Assuntos
Potenciais de Ação/fisiologia , Encéfalo/fisiopatologia , Eletrocorticografia/métodos , Eletrodos Implantados , Epilepsias Parciais/fisiopatologia , Adolescente , Adulto , Criança , Eletrocorticografia/instrumentação , Epilepsias Parciais/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
15.
Clin Neurophysiol ; 132(9): 2176-2183, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34284253

RESUMO

OBJECTIVE: Quantitative Encephalography (qEEG) depicts synthetically the features of EEG signal and represents a promising tool in the assessment of neurophysiological changes brought about by Anti-Seizure Medications (ASMs). In this study we characterized qEEG alterations related to add-on therapy with Perampanel (PER). PER is the only ASM presenting a direct glutamatergic antagonism, hence the characterization of PER induced EEG changes could help to better understand its large spectrum of efficacy. METHODS: We analysed standard-19 channel-EEG from 25 People with Epilepsy (PwE) both before (T0) and after (T1) the introduction of PER as add-on treatment. Normal values were obtained in 30 healthy controls (HC) matched for sex and age. EEGs were analysed using Matlab™ and the EEGlab and Brainstorm toolkits. We extracted spectral power and connectivity (Phase locking Value) of EEG signal and then compared these features between T0 and T1 and across groups (PwE, HC), we also evaluated the correlations with clinical features. RESULTS: PwE showed increased theta power (p = 0.036) after the introduction of PER but no significant change of EEG connectivity. We also found that PwE have reduced beta power (p = 0.012) and increased connectivity in delta (p = 0.013) and theta (p = 0.007) range as compared to HC, but no significant change was observed between T0 and T1 in PwE. Finally, we found that PwE classified as drug responders to PER have greater alpha power both at T0 and at T1 (p = 0.024) suggesting that this parameter may predict response to treatment. CONCLUSIONS: PER causes slight increase of theta activity and does not alter connectivity as assessed by standard EEG. Moreover, greater alpha power could be a good marker of response to PER therapy, and potentially ASM therapy in general. SIGNIFICANCE: Our results corroborate the hypothesis that pharmaco-EEG is a viable tool to study neurophysiological changes induced by ASM. Additionally, our work highlights the role of alpha power as a marker of ASM therapeutic response.


Assuntos
Anticonvulsivantes/administração & dosagem , Encéfalo/efeitos dos fármacos , Eletroencefalografia/efeitos dos fármacos , Epilepsias Parciais/tratamento farmacológico , Rede Nervosa/efeitos dos fármacos , Nitrilas/administração & dosagem , Piridonas/administração & dosagem , Adulto , Idoso , Encéfalo/fisiopatologia , Quimioterapia Combinada , Eletroencefalografia/métodos , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/fisiopatologia , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Rede Nervosa/fisiopatologia , Estudos Prospectivos , Resultado do Tratamento
16.
Ann Neurol ; 90(2): 285-299, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34180075

RESUMO

OBJECTIVE: Low-level somatic mosaicism in the brain has been shown to be a major genetic cause of intractable focal epilepsy. However, how a relatively few mutation-carrying neurons are able to induce epileptogenesis at the local network level remains poorly understood. METHODS: To probe the origin of epileptogenesis, we measured the excitability of neurons with MTOR mutation and nearby nonmutated neurons recorded by whole-cell patch-clamp and array-based electrodes comparing the topographic distribution of mutation. Computational simulation is used to understand neural network-level changes based on electrophysiological properties. To examine the underlying mechanism, we measured inhibitory and excitatory synaptic inputs in mutated neurons and nearby neurons by electrophysiological and histological methods using the mouse model and postoperative human brain tissue for cortical dysplasia. To explain non-cell-autonomous hyperexcitability, an inhibitor of adenosine kinase was injected into mice to enhance adenosine signaling and to mitigate hyperactivity of nearby nonmutated neurons. RESULTS: We generated mice with a low-level somatic mutation in MTOR presenting spontaneous seizures. The seizure-triggering hyperexcitability originated from nonmutated neurons near mutation-carrying neurons, which proved to be less excitable than nonmutated neurons. Interestingly, the net balance between excitatory and inhibitory synaptic inputs onto mutated neurons remained unchanged. Additionally, we found that inhibition of adenosine kinase, which affects adenosine metabolism and neuronal excitability, reduced the hyperexcitability of nonmutated neurons. INTERPRETATION: This study shows that neurons carrying somatic mutations in MTOR lead to focal epileptogenesis via non-cell-autonomous hyperexcitability of nearby nonmutated neurons. ANN NEUROL 2021;90:285-299.


Assuntos
Epilepsias Parciais/genética , Epilepsias Parciais/fisiopatologia , Malformações do Desenvolvimento Cortical/genética , Malformações do Desenvolvimento Cortical/fisiopatologia , Serina-Treonina Quinases TOR/genética , Adolescente , Animais , Criança , Pré-Escolar , Eletroencefalografia/métodos , Epilepsias Parciais/diagnóstico por imagem , Feminino , Humanos , Masculino , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Camundongos , Camundongos Endogâmicos C57BL , Técnicas de Cultura de Órgãos , Gravidez
17.
Clin Neurol Neurosurg ; 207: 106776, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34192624

RESUMO

Atonic seizures are typically observed in younger children with Lennox-Gastaut syndrome and have been rarely described in adults. Herein we present a case of the adolescent-onset drug-resistant focal epilepsy in a 31-year-old woman with focal atonic seizures originating in the left posterior temporoparietal area and manifesting without aura with abrupt impairment of consciousness and slow falling down. According to the video-EEG monitoring, the seizure began with the medium amplitude spikes principally at T5 area evolving onto the left centroparietal area, which was immediately followed by the diffuse suppression of the background EEG activity. The underlying mechanism might be related to high-frequency electrical stimulation of the negative motor areas within the inferior frontal gyrus or anterior to the supplementary sensorimotor area.


Assuntos
Epilepsia Resistente a Medicamentos/complicações , Epilepsias Parciais/complicações , Lobo Parietal/fisiopatologia , Convulsões/etiologia , Lobo Temporal/fisiopatologia , Adulto , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/fisiopatologia , Eletroencefalografia , Epilepsias Parciais/diagnóstico por imagem , Epilepsias Parciais/fisiopatologia , Feminino , Humanos , Convulsões/diagnóstico por imagem , Convulsões/fisiopatologia
18.
J Neurosci Res ; 99(10): 2657-2668, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34133770

RESUMO

Sleep-related hypermotor epilepsy (SHE) is a focal epilepsy whose neurobiological underpinnings remain poorly understood. The present study aimed to identify possible neurochemical alterations in the dorsolateral prefrontal cortex (DLPFC) in participants with SHE using proton magnetic resonance spectroscopy (1 H MRS). Thirty-nine participants with SHE (mean age, 30.7 years ± 11.3 [standard deviation], 24 men) and 59 controls (mean age, 29.4 years ± 10.4, 29 men) were consecutively and prospectively recruited and underwent brain magnetic resonance imaging and 1 H MRS in the bilateral DLPFCs. Brain concentrations of metabolites, including N-acetyl aspartate (NAA), myo-inositol (mI), choline, creatine, the sum of glutamate and glutamine, glutathione (GSH) and γ-aminobutyric acid, were estimated with LCModel and corrected for the partial volume effect of cerebrospinal fluid using tissue segmentation. ANCOVA analyses revealed lower concentration of NAA in the left DLPFC in participants with SHE compared with controls. A significant difference of NAA concentration between DLPFC in the two hemispheres (left > right) was observed only in the control group. We further confirmed a higher GSH concentration in men than in women in SHE participants, which probably indicates that men are more susceptible to this disease. The mI concentration in the right DLPFC was negatively correlated with epilepsy duration. This study demonstrates that DLPFC is an important brain region involved in the pathophysiology of SHE, in which both neurons and astrocytes appear impaired, and the elevated GSH level may suggest an abnormality related to oxidative stress.


Assuntos
/diagnóstico por imagem , Epilepsias Parciais/diagnóstico por imagem , Epilepsias Parciais/metabolismo , Espectroscopia de Ressonância Magnética/métodos , Sono/fisiologia , Adolescente , Adulto , Epilepsias Parciais/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Prótons , Adulto Jovem
19.
J Neurosci Res ; 99(10): 2669-2687, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34173259

RESUMO

Understanding and diagnosing cognitive impairment in epilepsy remains a prominent challenge. New etiological models suggest that cognitive difficulties might not be directly linked to seizure activity, but are rather a manifestation of a broader brain pathology. Consequently, treating seizures is not sufficient to alleviate cognitive symptoms, highlighting the need for novel diagnostic tools. Here, we investigated whether the organization of three intrinsic, resting-state functional connectivity networks was correlated with domain-specific cognitive test performance. Using individualized EEG source reconstruction and graph theory, we examined the association between network small worldness and cognitive test performance in 23 patients with focal epilepsy and 17 healthy controls, who underwent a series of standardized pencil-and-paper and digital cognitive tests. We observed that the specific networks robustly correlated with test performance in distinct cognitive domains. Specifically, correlations were evident between the default mode network and memory in patients, the central-executive network and executive functioning in controls, and the salience network and social cognition in both groups. Interestingly, the correlations were evident in both groups, but in different domains, suggesting an alteration in these functional neurocognitive networks in focal epilepsy. The present findings highlight the potential clinical relevance of functional brain network dysfunction in cognitive impairment.


Assuntos
Encéfalo/diagnóstico por imagem , Cognição , Epilepsias Parciais/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Rede Nervosa/diagnóstico por imagem , Testes Neuropsicológicos , Encéfalo/fisiologia , Cognição/fisiologia , Epilepsias Parciais/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Rede Nervosa/fisiologia
20.
Clin Neurophysiol ; 132(7): 1663-1676, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34044189

RESUMO

OBJECTIVE: The hypersynchronous neuronal activity associated with epilepsy causes widespread functional network disruptions extending beyond the epileptogenic zone. This altered network topology is considered a mediator for non-seizure symptoms, such as cognitive impairment. The aim of this study was to investigate functional network alterations in focal epilepsy patients with good seizure control and high quality of life. METHODS: We compared twenty-two focal epilepsy patients and sixteen healthy controls on graph metrics derived from functional connectivity of source-level resting-state EEG. Graph metrics were calculated over a range of network densities in five frequency bands. RESULTS: We observed a significantly increased small world index in patients relative to controls. On the local level, two left-hemisphere regions displayed a shift towards greater alpha band "hubness". The findings were not mediated by age, sex or education, nor by age of epilepsy onset, duration or focus lateralisation. CONCLUSIONS: Widespread functional network alterations are evident in focal epilepsy, even in a cohort characterised by successful anti-seizure medication therapy and high quality of life. These findings might support the position that functional network analysis could hold clinical relevance for epilepsy. SIGNIFICANCE: Focal epilepsy is accompanied by global and local functional network aberrancies which might be implied in the sustenance of non-seizure symptoms.


Assuntos
Encéfalo/fisiopatologia , Eletroencefalografia/métodos , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/fisiopatologia , Rede Nervosa/fisiopatologia , Mapeamento Encefálico/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
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