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Background and purpose Temporal lobe epilepsy secondary to hippocampal sclerosis is related to epileptogenic networks rather than a focal epileptogenic source. Graph‐theoretical gray and white matter networks may help to identify alterations within these epileptogenic networks. Methods Twenty‐seven patients with hippocampal sclerosis and 14 controls underwent magnetic resonance imaging, including 3D‐T1, fluid‐attenuated inversion recovery, and diffusion tensor imaging. Subject‐specific structural gray and white matter network properties (normalized path length, clustering, and small‐worldness) were reconstructed. Group differences and differences between those with higher and lower seizure burden ( .05). Patients with lower seizure burden had significantly lower gray matter small‐worldness and normalized clustering compared to controls and those with higher seizure burden (all p, Temporal lobe epilepsy secondary to hippocampal sclerosis is related to abnormal epileptogenic networks, including multiple temporal and extra‐temporal structures, rather than a single focal epileptogenic source. This study aims to assess alterations within structural gray and white matter networks in patients with hippocampal sclerosis, through a graph theory analysis. In patients with hippocampal sclerosis, a more rigidly organized network (higher small‐worldness) was related to having more monthly seizures; also, patients with low seizure burden had significantly lower gray matter small‐worldness and normalized clustering compared to controls and those with high seizure burden.

The aim of this study was to evaluate white matter (WM) integrity in vivo in patients with unilateral mesial temporal sclerosis (MTS).Diffusion tensor imaging (DTI) findings from patients with left-sided MTS (L-MTS; N = 14) and right-sided MTS (R-MTS; N = 13), all taking antiepileptic medication, were compared with those from gender- and age-matched controls; DTI was performed along 30 noncollinear directions in a 1.5-T scanner. Tract-based spatial statistics (TBSS) analysis was performed by creating a WM skeleton; 5000-permutation-based inference (threshold, p 0.05) was used to identify fractional anisotropy (FA) abnormalities. Mean (MD), radial (RD), and axial diffusivities (AD) were projected onto the mean FA skeleton.Compared with the control groups, patients with MTS had decreased FA affecting widespread WM tracts as well as extensive areas with increased RD, bilaterally and independent of the disease side. Areas with decreased FA and increased RD overlapped substantially. There were no significant differences in DTI parameters between L-MTS and R-MTS patients.Diffusion tensor imaging abnormalities were observed within and beyond the temporal lobe in patients with MTS. Patients with R- and L-MTS had extensive bilateral abnormalities in comparison to controls. These findings suggest that MTS pathobiology involves diffuse dysfunction of WM tracts, even in areas with no direct connections to the hippocampus.

Purpose Individuals with type 1 diabetes mellitus (T1D) are at higher risk of epilepsy. T1D is a progressive immune-mediated disease and the etiology of epilepsy remains unknown in most. Glutamic acid decarboxylase (GAD) catalyzes GABA formation. GABA-secreting neurons and pancreatic beta cells are the major cells expressing GAD. Methods Cross-sectional study. Patients with T1D from a multiethnic population underwent GADA measurement to investigate possible association between T1D and epilepsy of unknown etiology. Results T1D patients were analyzed (n = 375). Overall frequency of epilepsy was 5.9% (n = 22). Frequency of epilepsy of unknown etiology was 3.2% (n = 12). Of these, 8 (2.1%) had idiopathic generalized epilepsy (IGE) and 4 (1.1%) MRI-negative temporal lobe epilepsy (TLE). Patients with T1D and epilepsy of unknown etiology did not show differences in GADA frequency (83.3% vs 50%; p = 0.076); however, their titers were higher (106.9 ± 136.5 IU/mL; median 7; IQR 1.65–256 vs 10.2 ± 14.5 IU/ml; median 4.3; IQR 1.9–8.9; p = 0.019) compared to patients without epilepsy. Moreover, epilepsy of unknown etiology was associated with GADA titers ≥ 100 UI/mL [odds ratio (OR) 4.42, 95% CI 2.36–8.66]. Conclusion Epilepsy frequency was elevated in patients with T1D and multiethnic background. Presence of epilepsy of unknown etiology was associated with high titers of GADA in this population with long-standing T1D, which has different ethnic and genetic background compared to previous studies. Further prospective studies are required to identify if GADA presence or its persistence are directly responsible for epilepsy in individuals with T1D.

The objective of this study was to evaluate the cortical thickness and the volume of deep gray matter structures, measured from 3D T1-weighted gradient echo imaging, and white matter integrity, by diffusion tensor imaging (DTI) in patients with typical absence epilepsy (AE). Patients (n = 19) with typical childhood AE and juvenile AE, currently taking antiepileptic medication, were compared with control subjects (n = 19), matched for gender and age. 3D T1 magnetization-prepared rapid gradient echo-weighted imaging and DTI along 30 noncolinear directions were performed using a 1.5-T MR scanner. FreeSurfer was used to perform cortical volumetric reconstruction and segmentation of deep gray matter structures. For tract-based spatial statistics analysis of DTI, a white matter skeleton was created, along with a permutation-based inference with 5000 permutations. A threshold of p

Background Cerebral cavernous malformations (CCMs) are vascular capillary anomalies with a dysfunctional endothelial adherent junction profile, depicting hemorrhage and epilepsy as the main clinical features. With the advent of an increasingly personalized medicine, better comprehension of genetic mechanisms behind CCM represents an important key in the management of the patients and risk rating in relatives. In this context, genetic factors that might influence clinical expressiveness of CCM need to be identified. Case Description A 33-year-old woman harboring multiple CCM lesions with a CCM1 mutational profile already being treated conservatively for a right mesial temporal lobe CCM presented with refractory seizures. Magnetic resonance imaging showed no bleeding in the lesion, and the patient was submitted to complete resection of the CCM. Histopathology of the CCM samples depicted an extensive inflammatory reaction and colocalization of CD20+ and CD68+ cells. Genetic analyses of the patient and her mother demonstrated a novel CCM1 (KRIT1) frameshift mutation (c.1661_1662insT; p.Leu554PhefsTer14). Furthermore, variants in CD14 (rs778588), TLR-4 (rs10759930), SOD2 (rs4880), APEX1 (rs1130409), and OGG1 (rs1052133), known as polymorphisms related to disease aggressiveness, were detected in the patient and not in her oligosymptomatic mother harboring the same CCM1 mutation. Conclusions Heterogeneity of clinical manifestations among individuals with familial CCM with the same genotype adds mechanistic involvement of modifier factors as phenotypic markers. We describe a novel CCM1/KRIT1 familial mutation in which the coexistence of genetic variants in inflammation and oxidative stress may be related to variable expressiveness of the disease.

A 52-year-old woman with a past history of a tumefactive demyelinating lesion five years ago with left hemiparesis presented with a 30-day history of uninterrupted clonic movements involving her left face and upper limb, compatible with epilepsia partialis continua. An MRI showed right hemispheric cortical swelling (). She received phenytoin, valproate and phenobarbital with control of the epilepsia partialis continua and resolution of the MRI abnormalities (). […] Epilepsia partialis continua induces transient brain edema

Juvenile myoclonic epilepsy (JME) with praxis-induced seizures consists of a complex group of generalized epileptic syndromes. The aim of the present study was identifying the association between self-perception trigger factors and myoclonic jerks. Twenty-two patients were submitted to a protocol of neuropsychological activation (NPA) during video-electroencephalography (video-EEG) methods for 4-6 hours. A questionnaire was applied regarding patients' self-perception of factors that precipitate of seizures comparing with the video-EEG findings. Stress and sleep deprivation were perceived as triggers by 81.82%, followed by mental concentration (36.36%) and manual activities (31.82%). Praxis-induced seizures occurred in 36.4% of these patients. Self-perception of stress (81.82%), flashing lights (22.73%) and reading (13.64%) as triggering factors was significantly associated with triggering myoclonic seizures during video-EEG. We conclude that main finding of this study is the strong correlation between self-perception of trigger factors and actual trigger factors for seizures.

Epilepsy and syncope are clinical conditions with high prevalence rates in the general population, and the differential diagnosis between them is difficult. Objective To assess the frequency of syncope in patients diagnosed with drug-resistant epilepsy (DRE) without apparent heart disease, to investigate the relationship between clinical and electroencephalographic (EEG) changes, and to verify the role of the inclination test (IT). Method An open, prospective study from 2004 to 2006, including 35 consecutive patients from the Epilepsy Program of Hospital Universitário Clementino Fraga Filho who were diagnosed with DRE without apparent heart disease. Results The frequency of syncope was 25.7% (n=9), with a significant prevalence in women. Vasovagal syncope (VVS) was the most frequent diagnosis. Conclusion We found a significant association between syncope and the presence of autonomic symptoms (p=0.005). The IT plays an important role in the differential diagnosis of patients with DRE presenting with autonomic symptoms, regardless of EEG results and brain magnetic resonance imaging (MRI) abnormalities. Epilepsia e síncope são condições clínicas com alta prevalência na população geral e, às vezes, o diagnóstico diferencial entre elas é difícil. Objetivo Investigar a frequência de síncope em pacientes diagnosticados com epilepsia fármaco resistente (EFR), sem doença cardíaca aparente; investigar a relação entre alterações clínicas e eletrencefalográficas; verificar o papel do teste de inclinação (TI). Método Estudo aberto prospectivo, realizado de 2004 a 2006, incluindo 35 pacientes consecutivos do Programa de Epilepsias do Hospital Universitário Clementino Fraga Filho, diagnosticados com EFR, sem doença cardíaca aparente. Resultados A frequência de síncope foi de 25,7% (n=9), com prevalência significativa em mulheres. Síncope vasovagal (SVV) foi o diagnóstico mais frequente. Conclusão Encontramos uma significativa associação entre síncope e a presença de sintomas autonômicos (p=0,005). O TI tem importante papel no diagnóstico diferencial de pacientes com diagnóstico de EFR que apresentam sintomas autonômicos, a despeito de alterações eletrencefalográficas e de ressonância magnética do crânio.

PurposeTemporal lobe epilepsy (TLE) is the most common variety of focal epilepsy among adults. The neuroinflammatory mechanisms of epilepsies may be involved in the genesis of seizures and refractory epilepsies, particularly in the case of progressive syndromes such as TLE associated with mesial hippocampal sclerosis (TLE-HS). The goal of the present study is investigate the genetic profile of susceptibility of individuals with TLE-HS by analyzing the possible association of TLE-HS with human leukocyte antigen (HLA) DRB1, DQA1 and DQB1 alleles.MethodsPeripheral blood samples were collected from 42 individuals with pharmacoresistant TLE-HS and 89 healthy controls. The typing of the HLA class II alleles from DRB1, DQB1, and DQA1 loci were analyzed using sequence-specific primer-polymerase chain reaction (SSP-PCR) and identified through sequencing. Statistical analysis of relative allele frequencies was performed using an Excel spreadsheet; p-value, relative risk (RR), and odds ratio (OR) were calculated using the software Epi Info 6.0. p-values