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1.
Epilepsia Open ; 8(4): 1314-1330, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37491868

RESUMO

OBJECTIVE: NPRL3-related epilepsy (NRE) is an emerging condition set within the wide GATOR-1 spectrum with a particularly heterogeneous and elusive phenotypic expression. Here, we delineated the genotype-phenotype spectrum of NRE, reporting an illustrative familial case and reviewing pertinent literature. METHODS: Through exome sequencing (ES), we investigated a 12-year-old girl with recurrent focal motor seizures during sleep, suggestive of sleep-related hypermotor epilepsy (SHE), and a family history of epilepsy in siblings. Variant segregation analysis was performed by Sanger sequencing. All previously published NRE patients were thoroughly reviewed and their electroclinical features were analyzed and compared with the reported subjects. RESULTS: In the proband, ES detected the novel NPRL3 frameshift variant (NM_001077350.3): c.151_152del (p.Thr51Glyfs*5). This variant is predicted to cause a loss of function and segregated in one affected brother. The review of 76 patients from 18 publications revealed the predominance of focal-onset seizures (67/74-90%), with mainly frontal and frontotemporal (32/67-47.7%), unspecified (19/67-28%), or temporal (9/67-13%) onset. Epileptic syndromes included familial focal epilepsy with variable foci (FFEVF) (29/74-39%) and SHE (11/74-14.9%). Fifteen patients out of 60 (25%) underwent epilepsy surgery, 11 of whom achieved complete seizure remission (11/15-73%). Focal cortical dysplasia (FCD) type 2A was the most frequent histopathological finding. SIGNIFICANCE: We reported an illustrative NPRL3-related epilepsy (NRE) family with incomplete penetrance. This condition consists of a heterogeneous spectrum of clinical and neuroradiological features. Focal-onset motor seizures are predominant, and almost half of the cases fulfill the criteria for SHE or FFEVF. MRI-negative cases are prevalent, but the association with malformations of cortical developments (MCDs) is significant, especially FCD type 2a. The beneficial impact of epilepsy surgery in patients with MCD-related epilepsy further supports the inclusion of brain MRI in the workup of NRE patients.


Assuntos
Epilepsias Parciais , Epilepsia Motora Parcial , Epilepsia Reflexa , Síndromes Epilépticas , Masculino , Feminino , Humanos , Criança , Epilepsias Parciais/genética , Convulsões/genética , Proteínas Ativadoras de GTPase/genética
2.
Epileptic Disord ; 25(3): 416-421, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36946254

RESUMO

This report documents the clinical features of supplementary motor area seizures with voluntary movements in two patients. The first case describes a 13-year-old boy with a 2-year history of nocturnal seizures, characterized by an asymmetrical brief tonic posture followed by bilateral rapid hand shaking, but without impaired awareness. Magnetic resonance imaging revealed no abnormalities. Video electroencephalogram indicated interictal focal spikes and ictal activity 2 s before clinical onset in the frontal midline area. The patient stated that he purposely shook his hands to lessen the seizure-induced upper limb stiffness. The second case describes a 43-year-old man with a 33-year history of nocturnal seizures, characterized by an asymmetric brief tonic posture, with the right hand grabbing to hold this posture, but without impaired awareness. Video electroencephalogram indicated that he voluntarily moved his right hand during the latter part of the seizures; however, no clear ictal electroencephalogram change was noted. Magnetic resonance imaging revealed a mass lesion in the right medial superior frontal gyrus. Fluorodeoxyglucose-positron emission tomography and ictal single-photon emission computed tomography indicated ictal focus in the mesial frontal area, as confirmed by invasive electroencephalogram and seizure freedom after surgery. Both patients had typical supplementary motor area seizures, except they could perform voluntary movements in the body parts. The co-occurrence of supplementary motor area seizures and voluntary movements is clinically useful, as it may help avoid the inaccurate and misleading diagnosis of non-epileptic events such as psychogenic non-epileptic seizures.


Assuntos
Epilepsia Motora Parcial , Epilepsia Reflexa , Córtex Motor , Masculino , Humanos , Adolescente , Adulto , Epilepsia Motora Parcial/diagnóstico , Convulsões/diagnóstico , Convulsões/patologia , Tomografia Computadorizada de Emissão de Fóton Único , Eletroencefalografia , Córtex Motor/patologia , Tremor , Imageamento por Ressonância Magnética
3.
Artigo em Russo | MEDLINE | ID: mdl-36946395

RESUMO

OBJECTIVE: To study clinical, electroencephalographic and neuroimaging features in children with epileptic syndromes associated with focal clonic seizures (FCS). MATERIAL AND METHODS: We examined 1258 patients with various forms of epilepsy with the onset of seizures from the first day of life to 18 years. RESULTS: FCS was identified in 263 patients (20.9%). FCS were included in the structure of 13 different epileptic syndromes: Rolandic epilepsy (28.1%), structural focal epilepsy (27.5%), structural focal epilepsy associated with benign epileptiform discharges of childhood (SFE-BEDC) (20.6%), focal epilepsy of unknown etiology (7.5%), epilepsia partialis continua (4.6%), pseudo-Lennox syndrome (3.4%), ESES syndrome (2.7%), Landau-Kleffner syndrome (1.5%), Dravet syndrome (1.1%), benign occipital epilepsy (1.1%), benign focal epilepsy in infancy (0.8%), MISF syndrome (0.8%), cognitive epileptiform disintegration (0.8%). In 50% of cases, epilepsy associated with FCS debuts before the age of 5 years (from 1 month to 18 years, average age 4.26±3.9). CONCLUSION: The groups of syndromes associated with FCS have different prognosis for remission of seizures. Prognostic predictors of seizure remission are: epileptic syndromes associated with BEDC, the presence of periventricular leukomalacia. A severe prognosis for the course of epilepsy is associated with local structural changes in the neocortex. Despite a favorable prognosis for seizures, continued diffuse interictal epileptiform activity with BEDC on the electroencephalogram is a predictor of the onset of cognitive impairment in children.


Assuntos
Epilepsia Motora Parcial , Epilepsia Rolândica , Síndromes Epilépticas , Síndrome de Landau-Kleffner , Criança , Humanos , Lactente , Pré-Escolar , Epilepsia Motora Parcial/complicações , Convulsões/diagnóstico , Convulsões/etiologia , Síndromes Epilépticas/complicações , Epilepsia Rolândica/complicações , Síndrome de Landau-Kleffner/complicações , Eletroencefalografia/efeitos adversos
4.
Epilepsia Open ; 8(2): 346-359, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36692212

RESUMO

OBJECTIVE: We aimed to analyze the efficiency of corpus callosotomy (CC) and subsequent disconnection surgeries in patients with late-onset epileptic spasms (LOES) by comparing post-encephalitis/encephalopathy (PE) and non-encephalitis/encephalopathy (NE). We hypothesized these surgeries can control potential focal onset epileptic spasms (ES) in the NE group but not in the PE group. METHODS: We retrospectively included 23 patients (12 with PE and 11 with NE) who initially underwent CC and subsequent disconnection surgeries (five NE). We compared the clinical courses, seizure types, MRI, video-EEG, epilepsy surgery, and seizure outcomes between the two groups. RESULTS: The median age of LOES onset in the PE group was 2.8 (range 1.0-10.1 years) and 2.9 years (range 1.1-12.6) in the NE group. Bilateral MRI abnormalities were observed in both groups (PE, n = 12; NE, n = 3; P < 0.05). The PE group presented ES alone (n = 2), ES + focal seizures (FS) (n = 3), ES + generalized seizures (GS) (n = 3), and ES + FS + GS (n = 4) in addition to stimulus-induced startle seizures (SS) (n = 8) (mean 3.1 seizure types/patient). The NE group presented ES alone (n = 1), ES + FS (n = 2), and ES + FS + GS (n = 8) (mean 2.7 seizure types/patient). In the PE group, CC stopped ES (n = 1) and SS (n = 1) and achieved <50% SS (n = 3). In the NE group, CC achieved immediate ES-free status (n = 2) and < 50% ES (n = 1), and additional disconnection surgeries subsided all seizure types (n = 3) based on lateralized interictal/ictal EEG findings. LOES was significantly remitted by surgery in the NE group (6/11 [55%]) compared with the PE group (1/12 [8%]) (P < 0.05). SIGNIFICANCE: LOES is a drug-resistant, focal/generalized/unknown onset ES. Lateralization of ES in NE could be achieved after CC and eliminated by further disconnection surgeries because of potential focal onset ES. LOES in PE had little benefit from CC for generalized onset ES. However, CC might reduce SS in patients in the PE group with multiple seizure types.


Assuntos
Encefalite , Epilepsia Motora Parcial , Epilepsia , Espasmos Infantis , Humanos , Lactente , Pré-Escolar , Criança , Estudos Retrospectivos , Convulsões/etiologia , Encefalite/cirurgia , Encefalite/complicações , Epilepsia Motora Parcial/complicações , Espasmo/complicações
5.
Epileptic Disord ; 24(5): 941-946, 2022 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-35792850

RESUMO

A perfectly healthy preschool girl presented with acute repetitive focal aware motor seizures, while her brain MRI showed a lesion in the left posterior cortex. After a number of investigations, her cerebrospinal fluid PCR was positive for SARS-CoV-2. Despite receiving at least four anti-seizure medications at appropriate dosages, the seizures continued, and just after administering intravenous immunoglobulin, her seizures stopped. This dramatic response to intravenous immunoglobulin may indicate a hypothetical inflammatory process in the patient's cortex caused by COVID-19.


Assuntos
COVID-19 , Epilepsia Motora Parcial , COVID-19/complicações , Criança , Pré-Escolar , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , SARS-CoV-2 , Convulsões/tratamento farmacológico , Convulsões/etiologia
6.
Epilepsy Res ; 184: 106953, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35753205

RESUMO

OBJECTIVE: To investigate the accuracy of deep learning methods applied to seizure video data, in discriminating individual semiologic features of dystonia and emotion in epileptic seizures. METHODS: A dataset of epileptic seizure videos was used from patients explored with stereo-EEG for focal pharmacoresistant epilepsy. All patients had hyperkinetic (HKN) seizures according to ILAE definition. Presence or absence of (1) dystonia and (2) emotional features in each seizure was documented by an experienced clinician. A deep learning multi-stream model with appearance and skeletal keypoints, face and body information, using graph convolutional neural networks, was used to test discrimination of dystonia and emotion. Classification accuracy was assessed using a leave-one-subject-out analysis. RESULTS: We studied 38 HKN seizure videos in 19 patients. By visual analysis based on ILAE criteria, 9/19 patients were considered to have dystonia and 9/19 patients were considered to have emotional signs. Two patients had both dystonia and emotional signs. Applying the deep learning multistream model, spatiotemporal features of facial appearance showed best accuracy for emotion detection (F1 score 0.84), while skeletal keypoint detection performed best for dystonia (F1 score 0.83). SIGNIFICANCE: Here, we investigated deep learning of video data for analyzing individual semiologic features of dystonia and emotion in hyperkinetic seizures. Automated classification of individual semiologic features is possible and merits further study.


Assuntos
Distonia , Epilepsias Parciais , Epilepsia Motora Parcial , Epilepsia , Eletroencefalografia/métodos , Emoções , Epilepsias Parciais/diagnóstico , Humanos , Convulsões/diagnóstico por imagem
7.
Seizure ; 98: 44-50, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35417829

RESUMO

BACKGROUND: Versive seizures, consisting of forced, involuntary, sustained and unnatural turning of eyes and head toward one side, lateralize to the hemisphere contralateral to the direction of the eye and head turn. The characteristics of eye and head movements in version have been rarely and incompletely studied in spontaneous epileptic seizures as opposed to direct cortical stimulation studies. METHODS: We performed a single center retrospective analysis of a cohort of 28 patients with 43 seizures, who had been admitted to the adult epilepsy monitoring unit at University Hospitals Cleveland Medical Center between January 2009 and August 2020. We only included patients with clear, high-resolution seizure videos and interpretable EEG. RESULTS: The eye movements were conjugate and contralateral to the hemisphere of seizure onset in 100% of the focal-onset seizures. The eye movements were saccadic in 89.3% with a predominant vector in oblique upward direction in 86.8% of the seizures. Head deviation was present in 100% of the seizures and the eyes and head deviated in the same direction in 97.6% of the seizures. In addition to deviation along the horizontal meridian, there was a vertical component to the head deviation as well, as evidenced by movement of the chin upward along the vertical axis in 93% of the seizures, thus indicating strong activation of the sternocleidomastoid muscle ipsilateral to the hemisphere of seizure onset. Concomitant facial motor activity ipsilateral to the direction of version was seen in 93% of the seizures. The most common pattern was a clonic superimposed on tonic facial contraction. DISCUSSION: Version remains a reliable and highly lateralizing sign. The majority of the eye movements during version occur in a saccadic fashion rather than one smooth movement, mostly in an oblique upward direction. Head deviation is very closely associated with eye deviation, thus indicating a common symptomatogenic zone for both, which is most likely the frontal eye field. A high concurrence of ipsilateral facial motor activity with version is likely because of close proximity of the frontal eye field to the face area in the primary motor cortex.


Assuntos
Epilepsia Motora Parcial , Movimentos da Cabeça , Adulto , Eletroencefalografia , Lateralidade Funcional/fisiologia , Cabeça , Movimentos da Cabeça/fisiologia , Humanos , Estudos Retrospectivos , Convulsões
8.
Pediatr Clin North Am ; 68(4): 845-856, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34247713

RESUMO

Epilepsy in children continues to present a major medical and economic burden on society. Left untreated, seizures can present the risk of sudden death and severe cognitive impairment. It is understood that primary care providers having concerns about abnormal movements or behaviors in children will make a prompt referral to a trusted pediatric neurologist. The authors present a brief introduction to seizure types, classification, and management with particular focus on what surgery for epilepsy can offer. Improved seizure control and its attendant improvements in quality of life can be achieved with timely referral and intervention.


Assuntos
Corpo Caloso/cirurgia , Epilepsia/cirurgia , Procedimentos Neurocirúrgicos/métodos , Criança , Eletroencefalografia , Epilepsia Motora Parcial/cirurgia , Humanos , Qualidade de Vida , Fatores de Tempo , Resultado do Tratamento
9.
Epilepsy Res ; 171: 106572, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33662678

RESUMO

Our previous studies suggest the tuber center is the seizure focus in tuberous sclerosis complex (TSC). We report findings from 5 epilepsy surgeries in 4 children with TSC and focal motor seizures from single tubers in primary sensorimotor cortex in which resection was limited to the cortex in the tuber center. Intraoperative electrocorticography showed epileptiform activity in the tuber center, with or without propagation to the tuber rim and surrounding perituberal cortex. Histopathology showed an abundance of dysmorphic neurons in the tuber center compared to the rim in four paired specimens, dysmorphic neurons being the reported epileptogenic cell line in TSC. Associated focal motor seizures were eliminated in all children (mean follow up 6.3 years) without postoperative deficits. Tuber center resections are a potential alternative to complete tuberectomy in patients with epileptogenic tubers in eloquent cortex and potentially also in children with a high tuber load and multifocal seizures.


Assuntos
Epilepsia , Convulsões , Córtex Sensório-Motor , Esclerose Tuberosa , Eletrocorticografia , Eletroencefalografia , Epilepsia/etiologia , Epilepsia/cirurgia , Epilepsia Motora Parcial , Humanos , Convulsões/etiologia , Convulsões/cirurgia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/cirurgia
10.
Epilepsia ; 61(10): 2194-2202, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32949468

RESUMO

OBJECTIVE: Sleep-related hypermotor epilepsy (SHE) is a focal epilepsy characterized by seizures occurring mostly during sleep, ranging from brief seizures with paroxysmal arousals (SPAs) to hyperkinetic seizures and ambulatory behaviors. SPAs are brief and stereotypic seizures representing the beginning of a major seizure. Distinguishing SPAs from disorders of arousal (DOAs) and their briefest episodes called simple arousal movements (SAMs) is difficult. We performed a characterization of SPAs and SAMs to identify video-polysomnographic (VPSG) features that can contribute to the diagnosis of SHE or DOA. METHODS: Fifteen SHE, 30 DOA adult patients, and 15 healthy subjects underwent full-night VPSG. Two neurologist experts in sleep disorders and epilepsy classified all the sleep-related movements and episodes recorded. For each SPAs and SAMs, sleep stage at onset, duration, limb involvement, progression, and semiology have been identified. RESULTS: A total of 121 SPAs were recorded, emerging mostly during stage 1-2 non-rapid eye movement (NREM) sleep (median duration: 5 seconds). At the beginning, the SPAs motor pattern was hyperkinetic in 78 cases (64%), involving more than three non-contiguous or all body parts. The standard was a constant progression of movements during SPAs without any motor arrests. In DOA patients a total of 140 SAMs were recorded (median duration: 12 seconds) mostly emerging during stage 3 NREM sleep. In SAMs, we did not observe any tonic/dystonic or hypermotor patterns or stereotypy; motor arrest was present over the course of about half of the episodes. In comparison with both DOA and healthy subjects, SHE patients showed a higher number of sleep-related movements per night and a reduction of sleep efficiency. SIGNIFICANCE: SPAs and SAMs present different semiological and clinical features. Their recognition could be useful to drive the diagnosis when major episodes are not recorded during VPSG in patients with a clear clinical history of SHE or DOA.


Assuntos
Nível de Alerta/fisiologia , Epilepsia Motora Parcial/fisiopatologia , Parassonias/fisiopatologia , Convulsões/fisiopatologia , Fases do Sono/fisiologia , Adolescente , Adulto , Criança , Pré-Escolar , Epilepsia Motora Parcial/diagnóstico , Epilepsia Motora Parcial/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Parassonias/diagnóstico , Parassonias/epidemiologia , Polissonografia/métodos , Convulsões/diagnóstico , Convulsões/epidemiologia , Gravação em Vídeo/métodos , Adulto Jovem
11.
Neurology ; 95(6): e637-e642, 2020 08 11.
Artigo em Inglês | MEDLINE | ID: mdl-32636329

RESUMO

OBJECTIVE: To study neural networks involved in hyperkinetic seizures (HKS) using ictal SPECT. METHODS: We retrospectively identified 18 patients with HKS evaluated at the Cleveland Clinic between 2005 and 2015 with video-EEG monitoring and ictal SPECT. Semiology was confirmed by the consensus of 2 epileptologists' independent reviews and classified as type 1, 2, or 3 HKS. SPECT data were analyzed by 2 independent physicians using a z score of 1.5. Ictal hyperperfusion patterns for each group were analyzed visually and with SPM. Spatial normalization to Montreal Neurological Institute space for each patient's data was performed, followed by flipping of data from patients with left-sided ictal onset to the right side. Finally, an average z score map for each group was calculated. RESULTS: Visual analysis and SPM identified different patterns of ictal hyperperfusion in the 3 subtypes of HKS. Type 1 seizures showed hyperperfusion in a more anteriorly located network involving the anterior insula, orbitofrontal cortex, cingulate, and anterior perisylvian region and rostral midbrain. Type 2 seizures were associated with hyperperfusion in a more caudally located network involving the orbitofrontal cortex, cingulate (middle and posterior), basal ganglia, thalami, and cerebellum. Type 3 seizures showed a mixed pattern of SPECT hyperperfusion involving the temporal pole and anterior perisylvian region. CONCLUSIONS: Each of the 3 different semiologic subtypes of HKS is associated with distinct patterns of hyperperfusion, providing further insight into the neural networks involved. This knowledge may inform placement of invasive EEG electrodes in patients with HKS semiology undergoing presurgical evaluation.


Assuntos
Epilepsia Motora Parcial/diagnóstico por imagem , Hipercinese/diagnóstico por imagem , Rede Nervosa/diagnóstico por imagem , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Adolescente , Adulto , Mapeamento Encefálico , Circulação Cerebrovascular , Criança , Dominância Cerebral , Eletroencefalografia/métodos , Epilepsia Motora Parcial/classificação , Epilepsia Motora Parcial/fisiopatologia , Feminino , Humanos , Hipercinese/fisiopatologia , Masculino , Pessoa de Meia-Idade , Rede Nervosa/fisiopatologia , Cuidados Pré-Operatórios , Estudos Retrospectivos , Gravação em Vídeo/métodos , Adulto Jovem
12.
J Neurol Surg A Cent Eur Neurosurg ; 81(2): 105-110, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31935786

RESUMO

OBJECTIVE: We recently developed a new subcortical mapping technique based on the concept of stimulating the tissue at the site of and synchronously with resection. Our hypothesis was that instead of performing resection and mapping sequentially, a synchronized resection and mapping could potentially improve deficit rates. METHODS: We report our 5-year series of patients who prospectively underwent tumor surgery adjacent to the corticospinal tract (CST) (defined as < 1 cm using diffusion tension imaging and fiber tracking) with simultaneous subcortical short train cathodal monopolar mapping, equipped with a new acoustic motor evoked potential (MEP) alarm. Continuous (temporal coverage) and dynamic (spatial coverage) mapping was realized technically by integrating the mapping probe at the tip of a new suction device. Motor function was assessed using the Medical Research Council scale (from M1 to M5) 1 day after surgery, at discharge, and at 3 months. RESULTS: Technically, the method was successful in all 182 cases. The lowest individual motor thresholds reached during resection were > 10 mA, n = 56; 6-10 mA, n = 31; 4-5 mA, n = 37; and 1-3 mA, n = 58. At 3 months, six patients (3%) had a persisting postoperative motor deficit that was caused by direct mechanical injury in three of these patients (1.7%). CONCLUSIONS: Continuous dynamic mapping was found to be a feasible and ergonomic technique for localizing the exact site of the CST and distance to the motor fibers. This new technique may improve the safety of motor eloquent tumor surgery.


Assuntos
Mapeamento Encefálico/métodos , Neoplasias Encefálicas/diagnóstico por imagem , Tratos Piramidais/diagnóstico por imagem , Adulto , Idoso , Neoplasias Encefálicas/cirurgia , Simulação por Computador , Imagem de Difusão por Ressonância Magnética , Epilepsia Motora Parcial , Feminino , Humanos , Monitorização Neurofisiológica Intraoperatória , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/diagnóstico por imagem , Transtornos dos Movimentos/etiologia , Transtornos dos Movimentos/psicologia , Procedimentos Neurocirúrgicos , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/psicologia , Estudos Prospectivos , Software , Resultado do Tratamento
13.
J Investig Med High Impact Case Rep ; 7: 2324709619848816, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31104535

RESUMO

Refractory seizures or status epilepticus (RS/SE) continues to be a challenge in the inpatient setting. Failure to abort a seizure with antiepileptic drugs (AEDs) may lead to intubation and treatment with general anesthesia exposing patients to complications, extending hospitalization, and increasing the cost of care. Studies have shown a key role of inflammatory mediators in seizure generation and termination. We describe 4 patients with RS/SE that was aborted when dexamethasone was added to conventional AEDs: a 61-year-old female with temporal lobe epilepsy who presented with delirium, nonconvulsive status epilepticus, and oculomyoclonic status; a 56-year-old female with history of traumatic left frontal lobe hemorrhage who developed right face and hand epilepsia partialis continua followed by refractory focal clonic seizures; a 51-year-old male with history of traumatic intracranial hemorrhage who exhibited left-sided epilepsia partialis continua; and a 75-year-old female with history of breast cancer who manifested nonconvulsive status epilepticus and refractory focal clonic seizures. All patients continued experiencing RS/SE despite first- and second-line therapy, and one patient continued to experience RS/SE despite third-line therapy. Failure to abort RS/SE with conventional therapy motivated us to administer intravenous dexamethasone. A 10-mg load was given (except in one patient) followed by 4.0- 5.2 mg q6h. All clinical and electrographic seizures stopped 3-4 days after starting dexamethasone. When dexamethasone was discontinued 1-3 days after seizures stopped, all patients remained seizure-free on 2-3 AEDs. The cessation of RS/SE when dexamethasone was added to conventional antiseizure therapy suggests that inflammatory processes are involved in the pathogenesis of RS/SE.


Assuntos
Dexametasona/administração & dosagem , Glucocorticoides/administração & dosagem , Estado Epiléptico/tratamento farmacológico , Administração Intravenosa , Idoso , Epilepsia Parcial Contínua/tratamento farmacológico , Epilepsia Motora Parcial/tratamento farmacológico , Feminino , Humanos , Pacientes Internados , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
14.
Epilepsia ; 60 Suppl 1: 47-59, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30869168

RESUMO

Perampanel is an approved adjunctive treatment for focal seizures with or without focal to bilateral tonic-clonic (FBTC) seizures and generalized tonic-clonic (GTC) seizures. We compared efficacy and safety of perampanel vs placebo in Asian and non-Asian populations in a post hoc analysis of pooled data from 5 randomized phase 3 studies. Patients (≥12 years old) with focal + FBTC seizures received perampanel 2, 4, 8, or 12 mg or placebo; patients with GTC seizures received perampanel 8 mg or placebo (titration: 4-6 weeks; maintenance: 13 weeks). Efficacy endpoints included median percentage change in FBTC or GTC seizure frequency per 28 days and 50% responder rate relative to baseline. Median percentage change in FBTC seizure frequency was significantly greater for perampanel 8 and 12 mg than placebo in the Asian population (median difference from placebo: -30.32%, P = 0.0017; -30.06%, P = 0.0008, respectively) and perampanel 4, 8, and 12 mg in the non-Asian population (-35.07%, P = 0.0001; -37.78%, P < 0.0001; -34.53%, P < 0.0001, respectively). In both populations, median percentage change in GTC seizure frequency was significantly greater for perampanel 8 mg than placebo (median difference from placebo: Asian, -37.37%, P = 0.0139; non-Asian, -27.04%, P = 0.0006). The 50% responder rates were significantly greater than placebo for perampanel 8 and 12 mg for FBTC seizures (Asian: 58.0%, P = 0.0017 and 58.6%, P = 0.0013, respectively; non-Asian: 59.3%, P < 0.0001 and 54.3%, P = 0.0050, respectively) and perampanel 8 mg for GTC seizures (Asian: 57.6%, P = 0.0209; non-Asian: 68.8%, P = 0.0329). Pooled FBTC/GTC seizure data showed generally similar patterns of response to perampanel in both populations. The most frequent treatment-related adverse events were fatigue, irritability, dizziness, somnolence, and headache. Perampanel was effective, well tolerated, and can be considered a therapeutic option for FBTC/GTC seizures in Asian populations.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Motora Parcial/tratamento farmacológico , Epilepsia Tônico-Clônica/tratamento farmacológico , Piridonas/uso terapêutico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticonvulsivantes/efeitos adversos , Povo Asiático , Criança , Relação Dose-Resposta a Droga , Quimioterapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nitrilas , Piridonas/efeitos adversos , Convulsões/tratamento farmacológico , Resultado do Tratamento , Adulto Jovem
15.
Epilepsia ; 60(4): 707-717, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30866067

RESUMO

OBJECTIVES: Sleep-related hypermotor epilepsy (SHE), formerly nocturnal frontal lobe epilepsy, is characterized by abrupt and typically sleep-related seizures with motor patterns of variable complexity and duration. They seizures arise more frequently in the frontal lobe than in the extrafrontal regions but identifying the seizure onset-zone (SOZ) may be challenging. In this study, we aimed to describe the clinical features of both frontal and extrafrontal SHE, focusing on ictal semiologic patterns in order to increase diagnostic accuracy. METHODS: We retrospectively analyzed the clinical features of patients with drug-resistant SHE seen in our center for epilepsy surgery. Patients were divided into frontal and extrafrontal SHE (temporal, operculoinsular, and posterior SHE). We classified seizure semiology according to four semiology patterns (SPs): elementary motor signs (SP1), unnatural hypermotor movements (SP2), integrated hypermotor movements (SP3), and gestural behaviors with high emotional content (SP4). Early nonmotor manifestations were also assessed. RESULTS: Our case series consisted of 91 frontal SHE and 44 extrafrontal SHE cases. Frontal and extrafrontal SHE shared many features such as young age at onset, high seizure-frequency rate, high rate of scalp electroencephalography (EEG) and magnetic resonance imaging (MRI) abnormalities, similar histopathologic substrates, and good postsurgical outcome. Within the frontal lobe, SPs were organized in a posteroanterior gradient (SP1-4) with respect to the SOZ. In temporal SHE, SP1 was rare and SP3-4 frequent, whereas in operculoinsular and posterior SHE, SP4 was absent. Nonmotor manifestations were frequent (70%) and some could provide valuable localizing information. SIGNIFICANCE: Our study shows that the presence of certain SP and nonmotor manifestations may provide helpful information to localize seizure onset in patients with SHE.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia Motora Parcial , Adolescente , Adulto , Epilepsia Resistente a Medicamentos/patologia , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia Motora Parcial/patologia , Epilepsia Motora Parcial/fisiopatologia , Epilepsia Motora Parcial/cirurgia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Transtornos do Sono-Vigília/patologia , Transtornos do Sono-Vigília/fisiopatologia , Adulto Jovem
16.
Parkinsonism Relat Disord ; 61: 161-165, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30361137

RESUMO

INTRODUCTION: Although focal motor seizures may resemble one or more movement disorders their phenomenology and prevalence remain uncertain. METHODS: To examine the extent to which focal motor seizures can present with a phenomenology fulfilling diagnostic criteria for movement disorders, 100 consecutive patients with focal motor seizures were rated by movement disorders experts, epileptologists, and general neurologists. RESULTS: A focal motor seizure phenomenologically manifested as a defined movement disorder in 29% of the patients from a consecutive video-EEG documented cohort as per consensus among experts: myoclonus and dystonia (10 and 9 cases, respectively) were the most common movement disorders, followed by chorea (4), stereotypies (3) myoclonus-dystonia (2), and tremor (1). CONCLUSIONS: Movement disorders and focal motor epilepsy share overlapping movement phenomenology.


Assuntos
Coreia/fisiopatologia , Distonia/fisiopatologia , Epilepsia Motora Parcial/fisiopatologia , Transtornos dos Movimentos/fisiopatologia , Mioclonia/fisiopatologia , Transtorno de Movimento Estereotipado/fisiopatologia , Tremor/fisiopatologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Coreia/etiologia , Estudos de Coortes , Distonia/etiologia , Eletroencefalografia , Epilepsia Motora Parcial/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/etiologia , Mioclonia/etiologia , Transtorno de Movimento Estereotipado/etiologia , Tremor/etiologia , Adulto Jovem
17.
Epileptic Disord ; 20(4): 295-300, 2018 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-30063026

RESUMO

Epileptic spasms represent a subcategory of motor seizures that have been extensively documented and recently re-classified by the International League Against Epilepsy as either generalized, focal or of unknown onset. Atypical characteristics continue to be reported in case studies, emphasizing the divergent morphological traits and putting into question the underlying aetiopathophysiology. Here, we report the findings of an infant with a triad of clinical manifestations during a single ictal event, comprising a cluster of epileptic spasms, vertical binocular nystagmus, and a focal tonic seizure. A video recording is presented that enabled clinical data to be correlated with EEG modifications. To date, a focal lesion has not been identified on brain imaging. The co-occurrence of these ictal paroxysms provides insight into the anatomical localization of seizure onset and complex epileptic networks involved, and challenges the pathophysiological hypothesis for epileptic spasms, implicating cortical-subcortical dysfunction and the implication of structures deep within the sulcus. Furthermore, the focal components both clinically and electrographically implicate involvement of the frontal eye field in the generation of vertical ictal nystagmus. [Published with video sequence on www.epilepticdisorders.com].


Assuntos
Epilepsia Motora Parcial/diagnóstico , Nistagmo Patológico/diagnóstico , Espasmos Infantis/diagnóstico , Eletroencefalografia , Humanos , Lactente , Masculino
18.
Neurocirugia (Astur : Engl Ed) ; 29(3): 150-156, 2018.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29033263

RESUMO

OBJECTIVES: It is common to observe the persistence of extra-axial collections after craniotomies. Most of these disappear in weeks or months but some remain. The onset of focal symptoms or the growth of these persistent collections months or years after surgery may indicate the presence of a chronic and latent infection by germs of low virulence such as Propionibacterium acnes (P. acnes). METHODS: We present two clinical cases with persistent extra-axial collections, which required surgery years after diagnosis, in which P. acnes was isolated as an aetiological agent and we reviewed the literature published in this regard. RESULTS: These are two patients who, following surgical procedures (decompressive craniectomy for severe TBI and craniotomy for right parietal meningioma) and extra-axial collections were kept, which were monitored over time and then were infected and required emergency evacuation. In these collections P. acnes grew as a causal agent and required targeted antibiotics. CONCLUSIONS: We must consider P. acnes as an infectious agent of post-surgical collections of long evolution. Atypical presentation and radiological changes may be helpful in diagnosis.


Assuntos
Craniectomia Descompressiva , Infecções por Bactérias Gram-Positivas/etiologia , Propionibacterium acnes/isolamento & purificação , Infecção da Ferida Cirúrgica/etiologia , Adulto , Idoso , Antibacterianos/uso terapêutico , Terapia Combinada , Traumatismos Craniocerebrais/cirurgia , Drenagem , Epilepsia Motora Parcial/etiologia , Feminino , Infecções por Bactérias Gram-Positivas/tratamento farmacológico , Infecções por Bactérias Gram-Positivas/cirurgia , Hematoma Epidural Craniano/etiologia , Hematoma Epidural Craniano/cirurgia , Humanos , Masculino , Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Complicações Pós-Operatórias/etiologia , Propionibacterium acnes/patogenicidade , Convulsões/etiologia , Telas Cirúrgicas , Deiscência da Ferida Operatória/cirurgia , Infecção da Ferida Cirúrgica/tratamento farmacológico , Infecção da Ferida Cirúrgica/cirurgia , Virulência
19.
Epilepsia ; 58(12): 2164-2171, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29105057

RESUMO

OBJECTIVE: To investigate potentially high-risk cardiac arrhythmias (PHAs) following focal to bilateral tonic-clonic seizures (FBTCSs) and generalized tonic-clonic seizures (GTCSs) and to study the association of PHAs with seizure characteristics and the severity of associated ictal respiratory dysfunction. METHODS: Electrocardiographic (EKG) and pulse oximetry (SpO2 ) data were recorded concurrently with video-electroencephalographic telemetry in the epilepsy monitoring unit (EMU). One minute of preictal EKG, the ictal EKG, and 2 min of ictal/postictal data were reviewed for each seizure. Nonsustained ventricular tachycardia, bradyarrhythmia, and/or sinus pauses were considered as PHAs. FBTCSs/GTCSs with PHAs were compared to those that had only ictal sinus tachycardia. RESULTS: Data from 69 patients with 182 FBTCSs/GTCSs with usable SpO2 and EKG recordings were available. There were 10 FBTCSs/GTCSs in 10 patients with a PHA. The presence of PHAs was not associated with seizure duration or SpO2 nadir. FBTCSs/GTCSs with a PHA were significantly associated with the duration of oxygen desaturation < 90% when compared with FBTCSs/GTCSs with only sinus tachycardia (Mann-Whitney, p = 0.042). Desaturation duration of <100 s was not significantly associated with occurrence of PHAs (p = 0.110) when compared with seizures that had only sinus tachycardia. The odds ratio for occurrence of PHA was 7.86 for desaturation durations ≥ 125 s versus desaturations < 125 s (p = 0.005). The odds ratio increased to 13.09 for desaturation durations ≥ 150 s (p < 0.001). Preictal and ictal/postictal arrhythmias occurred with focal seizures that did not progress to FBTCSs. Four patients with focal seizures had ictal/postictal PHAs without preictal PHAs. Two of these patients had evidence for prior cardiac disturbance. SIGNIFICANCE: PHAs following a single FBTCS/GTCS in the EMU are significantly associated with the duration of ictal/postictal hypoxemia. It is possible that FBTCS/GTCS-associated hypoxemia may trigger fatal cardiac arrhythmias in a subset of susceptible patients dying of sudden unexpected death in epilepsy.


Assuntos
Arritmias Cardíacas/complicações , Epilepsia Motora Parcial/complicações , Epilepsia Tônico-Clônica/complicações , Hipóxia/etiologia , Convulsões/etiologia , Adulto , Idoso , Arritmias Cardíacas/metabolismo , Morte Súbita Cardíaca/etiologia , Eletrocardiografia , Eletroencefalografia , Epilepsia Motora Parcial/metabolismo , Epilepsia Tônico-Clônica/metabolismo , Feminino , Humanos , Hipóxia/metabolismo , Masculino , Pessoa de Meia-Idade , Razão de Chances , Oximetria , Oxigênio/sangue , Convulsões/metabolismo , Telemetria
20.
Epileptic Disord ; 19(3): 362-366, 2017 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-28830844

RESUMO

We report a 37-year-old, right-handed patient with drug-resistant focal epilepsy whose seizures were characterized by explosive hyperkinetic behaviour. Video-SEEG revealed bifocal organization of epilepsy with two distinct cortical origins of seizures: the right temporal pole and left temporal lateral and perisylvian cortex. Irrespective of the cortical pattern of seizure onset, the hyperkinetic semiology was extremely similar. This supports a major role for "final common pathway" subcortical circuits in the genesis of the hyperkinetic semiology in this patient.


Assuntos
Epilepsias Parciais/fisiopatologia , Epilepsia Motora Parcial/fisiopatologia , Hipercinese/fisiopatologia , Adulto , Eletroencefalografia , Humanos , Masculino
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