Application of HFO and scaling analysis of neuronal oscillations in the presurgical evaluation of focal epilepsy.

PURPOSE: To explore the utility of high frequency oscillations (HFO) and long-range temporal correlations (LRTCs) in preoperative assessment of epilepsy. METHODS: MEG ripples were detected in 59 drug-resistant epilepsy patients, comprising 5 with parietal lobe epilepsy (PLE), 21 with frontal lobe epilepsy (FLE), 14 with lateral temporal lobe epilepsy (LTLE), and 19 with mesial temporal lobe epilepsy (MTLE) to identify the epileptogenic zone (EZ). The results were compared with clinical MEG reports and resection area. Subsequently, LRTCs were quantified at the source-level by detrended fluctuation analysis (DFA) and life/waiting -time at 5 bands for 90 cerebral cortex regions. The brain regions with larger DFA exponents and standardized life-waiting biomarkers were compared with the resection results. RESULTS: Compared to MEG sensor-level data, ripple sources were more frequently localized within the resection area. Moreover, source-level analysis revealed a higher proportion of DFA exponents and life-waiting biomarkers with relatively higher rankings, primarily distributed within the resection area (p<0.01). Moreover, these two LRCT indices across five distinct frequency bands correlated with EZ. CONCLUSION: HFO and source-level LRTCs are correlated with EZ. Integrating HFO and LRTCs may be an effective approach for presurgical evaluation of epilepsy.

The role of magnetoencephalography in preoperative localization and postoperative outcome prediction in patients with posterior cortical epilepsy.

OBJECTIVE: We aimed to explore the value of magnetoencephalography in the presurgical evaluation of patients with posterior cortex epilepsy. METHODS: A total of 39 patients with posterior cortex epilepsy (PCE) and intact magnetoencephalography (MEG) images were reviewed from August 2019 to July 2022. MEG dipole clusters were classified into single clusters, multiple clusters, and scatter dipoles based on tightness criteria. The association of the surgical outcome with MEG dipole classifications was evaluated using Fisher's exact tests. RESULTS: Among the 39 cases, there were 24 cases of single clusters (61.5%), nine cases of multiple clusters (23.1%), and six cases of scattered dipoles (15.4%). Patients with single dipole clusters were more likely to become seizure-free. Among single dipole cluster cases (n = 24), complete MEG dipole resection yielded a more favorable surgical outcome than incomplete resection (83.3% vs. 16.7%, p = 0.007). Patients with concordant MRI and MEG findings achieved a significantly more favorable surgical outcome than discordant patients (66.7% vs. 33.3%, p = 0.044), especially in single dipole cluster patients (87.5% vs. 25.0%, p = 0.005). SIGNIFICANCE: MEG can provide additional valuable information regarding surgical candidate selection, epileptogenic zone localization, electrode implantation schedule, and final surgical planning in patients with posterior cortex epilepsy.

Multimodal non-invasive evaluation in MRI-negative epilepsy patients.

Presurgical evaluation is still challenging for MRI-negative epilepsy patients. As non-invasive modalities are the easiest acceptable and economic methods in determining the epileptogenic zone, we analyzed the localization value of common non-invasive methods in MRI-negative epilepsy patients. In this study, we included epilepsy patients undergoing presurgical evaluation with presurgical negative MRI. MRI post-processing was performed using a Morphometric Analysis Program (MAP) on T1-weighted volumetric MRI. The relationship between MAP, magnetoencephalography (MEG), scalp electroencephalogram (EEG), and seizure outcomes was analyzed to figure out the localization value of different non-invasive methods. Eighty-six patients were included in this study. Complete resection of the MAP-positive regions or the MEG-positive regions was positively associated with seizure freedom (p = 0.028 and 0.007, respectively). When an area is co-localized by MAP and MEG, the resection of the area was significantly associated with seizure freedom (p = 0.006). However, neither the EEG lateralization nor the EEG localization showed statistical association with the surgical outcome (p = 0.683 and 0.505, respectively). In conclusion, scalp EEG had a limited role in presurgical localization and predicting seizure outcome, combining MAP and MEG results can significantly improve the localization of epileptogenic lesions and have a positive association with seizure-free outcome. PLAIN LANGUAGE SUMMARY: Due to the lack of obvious structure abnormalities on neuroimaging examinations, the identification of epilepsy lesions in MRI-negative epilepsy patients can be difficult. In this study, we intended to use non-invasive examinations to explore the potential epileptic lesions in MRI-negative epilepsy patients and to determine the results accuracy by comparing the neuroimaging results with the epilepsy surgery outcomes. A total of 86 epilepsy patients without obvious structure lesions on MRI were included, and we found that the combinations of different non-invasive examinations and neuroimaging post-processing methods are significantly associated with the seizure freedom results of epilepsy surgery.

The Correlation of ELP4-PAX6 With Rolandic Spike Sources in Idiopathic Rolandic Epilepsy Syndromes.

Objective: To study the single nucleotide polymorphism rs662702 of ELP4-PAX6 in patients with idiopathic rolandic epilepsy syndromes (IRES) in China and explore the relationship between the distribution of rolandic spike sources and the single nucleotide polymorphism rs662702 in ELP4-PAX6. Methods: First, clinical information was obtained from patients diagnosed with IRES. Next, the single nucleotide polymorphism rs662702 of ELP4 was analyzed by using the Sanger method. Resting-state magnetoencephalography data were collected from 17 patients. We analyzed the epileptic spike sources using the single equivalent current dipole (SECD) model and determined the spike distributions across the whole brain. Finally, Fisher's test was performed to assess the correlation between the single nucleotide polymorphism rs662702 of ELP4-PAX6 and rolandic spike sources. Results: ELP4 rs662702 T alleles were found in 10.7% of IRES patients and occurred four times more frequently in these patients than in the healthy controls. TT homozygosity was found in one IRES patient (1.3%), while no TT homozygosity was found in the healthy control group. The IRES rolandic spike sources were unilateral in sixteen patients (94.1%) and were mainly located in the anterior central gyrus (58.8%). The spike source of patients without the ELP4 rs662702 T allele was correlated with the central region (p < 0.05). The rolandic spikes sources were significant correlated with the non-central gyrus (frontal and temporal lobes) in patients with the ELP4 rs662702 T allele (p < 0.05). Conclusion: The rolandic spike sources of the IRES patients with the ELP4 rs662702 T allele were significantly associated with the non-central gyrus, including the frontal and temporal lobes. Our study confirmed for the first time in vivo that ELP4 rs662702 T allele overexpression is correlated with the rolandic spike distribution in patients with IRES and provides important insights into how genetic abnormalities can lead to brain dysfunction and into the precise targeting of abnormal discharge sources in the brain.

Comprehensive genetic, clinical and electrophysiological studies of familial cortical myoclonic tremor with epilepsy 1 highlight the role of gene configurations.

OBJECTIVES: Two configurations of TTTTA/TTTCA expansion in SAMD12 have been identified in familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1). This study investigated the clinical and neurophysiological features of FCMTE1 and their association with TTTTA/TTTCA expansion patterns. METHODS: In total, 76 patients from 20 Chinese pedigrees were enrolled. Genetic (TTTTA/TTTCA configuration), clinical (e.g., onset, medication, prognosis, and anticipation) and neurophysiological examination (e.g., electroencephalogram and magnetoencephalography) data were evaluated, and associations between these parameters were analyzed. RESULTS: All patients carried the TTTTA/TTTCA expansion mutation, 19 displayed the (TTTTA)exp(TTTCA)exp (type I) configuration and 1 displayed the (TTTTA)exp (TTTCA)exp(TTTTA)exp (type II) configuration. All patients manifested as progressive tremor, but symptoms of patients carrying type II expansion were more severe. The onset of tremor but not generalized tonic and clonic seizures displayed clinical anticipation between generations of 7 pedigrees, but the pedigree carrying the type II mutation did not show anticipation. Nanopore sequencing showed that the repeats expanded during maternal/offspring transmission (pedigree #7) but shrank during paternal/offspring transmission (pedigree #9). Magnetoencephalographic dipoles were localized in the right frontal lobe near the central sulcus in 4 patients carrying the type I mutation and on the left side in one patient carrying the type II mutation. SIGNIFICANCE: We confirmed the causative roles played by TTTTA/TTTCA repeat expansion in the SAMD12 gene in FCTME1. Both the length and the configuration of the repeats contribute to the clinical and neurophysiological characteristics of the disease.

Voxel-based morphometric MRI post-processing and PET/MRI co-registration reveal subtle abnormalities in cingulate epilepsy.

OBJECTIVE: Diagnostic challenges exist in the presurgical evaluation of patients with magnetic resonance imaging (MRI) negative cingulate epilepsy (CE) because of the heterogeneity in clinical semiology and lack of localizing findings on scalp electroencephalographic (EEG) recordings. We aimed to examine the neuroimaging characteristics in a consecutive cohort of patients with MRI-negative CE with a focus on two image post-processing methods, including the MRI post-processing morphometric analysis program (MAP) and 18F-fluorodeoxyglucose-positron emission tomography-MRI (PET/MRI) co-registration. METHODS: Included in this retrospective study were patients with MRI-negative CE who met the following criteria: negative on preoperative MRI, invasive EEG (iEEG) confirmed cingulate gyrus-onset seizures, surgical resection of the cingulate gyrus with/without adjacent cortex, and seizure-free for more than 12 months. MAP and PET/MRI co-registration were performed and investigated by comparison to ictal intracranial EEG findings. Other characteristics obtained from scalp EEG, magnetoencephalography (MEG), iEEG, and pathological study were also reported. RESULTS: Ten patients were included, of which eight were diagnosed with anterior CE, one with middle CE, and one with posterior CE. The semiology included fear, embarrassment, vocalization, ictal pouting, asymmetric tonic posture, hypermotor, and automatism. Scalp EEG revealed unilateral or bilateral frontal-temporal onset. MEG localized the dipoles correctly in one patient (1/10). MAP detected subtle abnormalities in regions concordant with iEEG onset in seven patients (7/10) while PET/MRI co-registration revealed focal concordant hypometabolism in five patients (5/10). Combining MAP with PET/MRI co-registration improved the detection rate to 90 % in this cohort. The pathology was focal cortical dysplasia (FCD), including FCD type IIA in three, type IIB in three, and type I in four. CONCLUSION: MAP and PET/MRI co-registration show promising results in identifying subtle FCD abnormalities in CE with negative results on conventional MRI, which can be otherwise challenging. More importantly, a combination of MRI post-processing and PET/MRI co-registration can greatly improve the identification of epileptic abnormalities, which can be used as surgical target. MAP and PET/MRI co-registration should be incorporated into the routine presurgical evaluation.

The value of magnetoencephalography for stereo-EEG-guided radiofrequency thermocoagulation in MRI-negative epilepsy.

OBJECTIVE: Magnetoencephalography (MEG) is valuable for guiding resective surgery in patients with epilepsy. However, its value for minimally invasive treatment is still unknown. This study aims to evaluate the value of MEG for stereo-electroencephalogram (EEG)-guided radiofrequency thermocoagulation (SEEG-guided RF-TC) in magnetic resonance imaging (MRI)-negative epilepsies. METHODS: An observational cohort study was performed and 19 MRI-negative patients who underwent SEEG-guided RF-TC in our epilepsy center were included. In addition, 16 MRI-positive patients were included as a reference group. Semiology, electrophysiology, and imaging information were collected. To evaluate the value of locating the MEG cluster, the proportion of the RF-TC contacts located in the MEG cluster out of all contacts used to perform RF-TC in each patient was calculated. All patients underwent the standard SEEG-guided RF-TC procedure and were followed up after the treatment. RESULTS: Nineteen MRI-negative patients were divided into two groups based on the existence of MEG clusters; 10 patients with MEG clusters were in group I and nine patients without any MEG cluster were in group II. No significant difference was observed in terms of age, sex, type of seizures, or number of SEEG electrodes implanted. The median of the proportion of contacts in the MEG cluster was 77.0 % (IQR 57.7-100.0 %). The follow-up results showed that the probability of being seizure-free at one year after RFTC in MRI-negative patients with an MEG cluster was 30.0 % (95 % CI 11.6-77.3 %), significantly (p = 0.014) higher than that in patients without an MEG cluster; there was no significant difference when compared with MRI-positive patients. CONCLUSION: This is the first study to evaluate the value of MEG in SEEG-guided RF-TC in MRI-negative epilepsies. MEG is a useful supplement for patients with MRI-negative epilepsy. MEG can be applied in minimally invasive treatment. MEG clusters can help identify better candidates and provide a valuable target for SEEG-guided RF-TC, which leads to better outcomes.

Pilot Study of Voxel-Based Morphometric MRI Post-processing in Patients With Non-lesional Operculoinsular Epilepsy.

Objective: The aim of this study was to use voxel-based MRI post-processing in detection of subtle FCD in drug-resistant operculoinsular epilepsy patients with negative presurgical MRI, and by combining magnetoencephalography (MEG) to improve the localization of epileptogenic zone. Methods: Operculoinsular epilepsy patients with a negative presurgical MRI were included in this study. MRI post-processing was performed using a Morphometric Analysis Program (MAP) on T1-weighted volumetric MRI. Clinical information including semiology, MEG, scalp electroencephalogram (EEG), intracranial EEG and surgical strategy was retrospectively reviewed. The pertinence of MAP-positive areas was confirmed by surgical outcome and pathology. Results: A total of 20 patients were diagnosed with operculoinsular epilepsy had non-lesional MRI during 2010-2018, of which 11 patients with resective surgeries were included. MEG showed clusters of single equivalent current dipole (SECD) in inferior frontal regions in five patients and temporal-insular/ frontal-temporal-insular/parietal-insular regions in five patients. Four out of 11 patients had positive MAP results. The MAP positive rate was 36.4%. The positive regions were in insular in one patient and operculoinsular regions in three patients. Three of the four patients who were MAP-positive got seizure-free after successfully resect the MAP-positive and MEG-positive regions (the pathology results were FCD IIb in two patients and FCD IIa in one patient). Conclusions: MAP is a useful tool in detection the epileptogenic lesions in patients with MRI-negative operculoinsular epilepsy. Notably, in order to make a right surgical regime decision, MAP results should always be interpreted in the context of the patient's anatomo-electroclinical presentation.

Frequency-specific changes in the default mode network in patients with cingulate gyrus epilepsy.

To identify abnormal functional connectivity of the default mode network in cingulate gyrus epilepsy, which may yield new information about the default mode network and suggest a new cingulate gyrus epilepsy biomarker. Fifteen patients with cingulate gyrus epilepsy (mean age = 21 years) and 15 healthy controls (mean age = 24 years) were studied in the resting state using magnetoencephalography. Twelve brain areas of interest in the default mode network were extracted and investigated with multifrequency signals that included alpha (α, 8-13 Hz), beta (ß, 14-30 Hz), and gamma (γ, 31-80 Hz) band oscillations. Patients with cingulate gyrus epilepsy had significantly greater connectivity in all three frequency bands (α, ß, γ). A frequency-specific elevation of functional connectivity was found in patients compared to controls. The greater functional connectivity in the γ band was significantly more prominent than that of the α and ß bands. Patients with cingulate gyrus epilepsy and controls differed significantly in functional connectivity between the left angular gyrus and left posterior cingulate cortex in the α, ß, and γ bands. The results of the node degree analysis were similar to those of the functional connectivity analysis. Our findings reveal for the first time that brain activity in the γ band may play a key role in the default mode network in cingulate gyrus epilepsy. Altered functional connectivity of the left angular gyrus and left posterior cingulate cortex may be a new biomarker for cingulate gyrus epilepsy.

Altered effective connectivity network in patients with insular epilepsy: A high-frequency oscillations magnetoencephalography study.

OBJECTIVE: The project aimed to determine the alterations in the effective connectivity (EC) neural network in patients with insular epilepsy based on interictal high-frequency oscillations (HFOs) from magnetoencephalography (MEG) data. METHODS: We studied MEG data from 22 insular epilepsy patients and 20 normal subjects. Alterations in spatial pattern and connection properties of the patients with insular epilepsy were investigated in the entire brain network and insula-based network. RESULTS: Analyses of the parameters of graph theory revealed the over-connectivity and small-world configuration of the global connectivity patterns observed in the patients. In the insula-based network, the insular cortex ipsilateral to the seizure onset displayed increased efferent and afferentEC. Left insular epilepsy featured strong connectivity with the bilateral hemispheres, whereas right insular epilepsy featured increased connectivity with only the ipsilateral hemisphere. CONCLUSIONS: Patients with insular epilepsy display alterations in the EC network in terms of both whole-brain connectivity and the insula-based network during interictal HFOs. SIGNIFICANCE: Alterations of interictal HFO-based networks provide evidence that epilepsy networks, instead of epileptic foci, play a key role in the complex pathophysiological mechanisms of insular epilepsy. The dysfunction of HFO networks may prove to be a novel promising biomarker and the cause of interictal brain dysfunctions in insular epilepsy.

Magnetoencephalogram-assisted diagnosis of familial focal epilepsy with variable foci in a Chinese family with a novel DEPDC5 mutation.

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant disorder characterized by focal seizures arising from different brain lobes in different family members. Currently, the diagnosis of this syndrome mainly depends on the combination of semiology and EEG after exclusion of other types of familial focal epilepsy. Mutations in dishevelled, Egl-10, and pleckstrin domain-containing protein 5 (DEPDC5) have been recently identified as a common cause of this syndrome. We studied a Chinese four-generation FFEVF family with nine affected individuals. Targeted next-generation sequencing was performed for the proband and the suspected mutation was confirmed by Sanger sequencing. Magnetoencephalography (MEG) was applied to two MRI-negative patients with refractory epilepsy. We identified a novel splice site mutation in DEPDC5 (c.280-1 G>A) in this family. The MEG results showed different dipole-clustered areas in these two patients. This is the first report of the use of MEG to confirm a diagnosis of FFEVF, in a Chinese family with a novel DEPDC5 mutation. Furthermore, the MEG results also revealed the possibility of surgical resection for these two intractable patients.

Detection and localization of interictal ripples with magnetoencephalography in the presurgical evaluation of drug-resistant insular epilepsy.

Precise noninvasive presurgical localization of insular epilepsy is important. The objective of the present study was to detect and localize interictal high-frequency oscillations (HFOs) in patients with insular epilepsy at the source levels using magnetoencephalography (MEG). We investigated whether HFOs can delineate epileptogenic areas. We analysed MEG data with new accumulated source imaging (HFOs, 80-250 Hz ripples during spikes) and conventional dipole modelling (spikes) methods for localizing epileptic foci. We evaluated the relationship of the resection of focal brain regions containing interictal HFOs and the spikes with the postsurgical seizure outcome. Interictal HFOs were localized in the insular epileptogenic zone (EZ) in 18 out of 21 patients undergoing surgical treatment for clinically diagnosed insular epilepsy. While dipole clusters of spikes were involved in the insular EZ in 15 patients. Both the HFOs and the dipole cluster were localized in the insula in 14 patients. The seizure-free percentage was 87% for the resection of brain regions generating HFOs, whereas 80% for the resection of brain regions generating spikes. There was a much higher chance of freedom from seizures with complete resection of the HFO-generating regions than with partial resection or no resection (P = 0.031). No such difference was seen for spike-generating regions. Our results suggest that HFOs from insular epilepsy could be noninvasively detected and quantitatively assessed with MEG technology. MEG HFOs (ripples during spikes) may be valuable for the localization of the epileptogenic zone in insular epilepsy.

A study for the mechanism of sensory disorder in restless legs syndrome based on magnetoencephalography.

In spite of the relatively high incidence rate, the etiology and pathogenesis of restless legs syndrome (RLS) are still unclear. Long-term drug treatments fail to achieve satisfying curative effects, which is reflected by rebound and augmentation of related symptoms. An electrophysiological endophenotype experiment was done to investigate the mechanism of somatosensory disorder among RLS patients. Together with 15 normal subjects as the control group, with comparable ages and genders to the RLS patients, 15 primitive RLS patients were scanned by Magnetoencephalography (MEG) under natural conditions; furthermore, the somatosensory evoked magnetic field (SEF) with single and paired stimuli, was also measured. Compared to the control group, the SEF intensities of RLS patients' lower limbs were higher, and the paired-pulse depression (PPD) for SEF in RLS patients was attenuated. It was also revealed by time-frequency analysis of somatosensory induced oscillation (SIO) in RLS patients, that 93.3% of somatosensory induced Alpha (8-12 Hz) oscillations were successfully elicited, while 0% somatosensory induced Gamma (30-55 Hz) oscillations were elicited; which was significantly different from the control group. Additionally, in RLS patients exhibit increased excitability of the sensorimotor cortex, a remarkable abnormality existing in early somatosensory gating control (GC) and an attenuated inhibitory interneuron network, which consequently results in a compensatory mechanism through which RLS patients increase their attention-driven lower limb sensory gating control via somatosensory-induced Alpha (8-12 Hz) oscillation. This hyperexcitability, partially due to an electrocortical disinhibition, may have an important therapeutical implication, and become an important target of neuromodulatory interventions.

Lateralization Value of Low Frequency Band Beamformer Magnetoencephalography Source Imaging in Temporal Lobe Epilepsy.

Objective: In presurgical evaluation of temporal lobe epilepsy (TLE), selection of the resection side is challenging when bilateral temporal epileptiform discharges or structural abnormalities are present. We aim to evaluate the lateralization value of beamformer analysis of magnetoencephalography (MEG) in TLE. Methods: MEG data from 14 TLE patients were analyzed through beamformer analysis. We measured the hemispherical power distribution of beamformer sources and calculated the lateralization index (LI). We calculated the LI at multiple frequencies to explore the frequency dependency and at the delta frequency to define laterality. LI values ranging from -1 to -0.05 indicated right hemispheric dominance. LI values ranging from 0.05 to 1 indicated left hemispheric dominance. LI values ranging from -0.05 to 0.05 defined bilaterality. We measured the power of beamformer sources with a 9-s duration to explore time dependency. Results: The beamformer analysis showed that 10/14 patients had power dominance ipsilateral to resection. The delta frequency band had a higher lateralization value than other frequency bands. A time-dependent power fluctuation was found in the delta frequency band. Conclusions: MEG beamformer analysis, especially in the delta band, might efficiently provide additional information regarding lateralization in TLE.

The role of magnetoencephalography in the presurgical evaluation of patients with MRI-negative operculo-insular epilepsy.

PURPOSE: Magnetoencephalography (MEG) is considered to be a useful clinical tool to provide additional information for localising the epileptogenic zone or planning intracranial electrode implantation. This study aimed to evaluate the value of MEG in the presurgical localisation of the operculo-insular epileptogenic zone in patients with negative magnetic resonance imaging (MRI). METHODS: Thirteen patients with operculo-insular epilepsy and negative MRI who were identified by presurgical evaluation and underwent resective surgery from January 2011 to June 2015 were included and analysed in the study. RESULTS: In presurgical evaluation, the ictal symptoms looked reliable enough to characterise operculo-insular seizures in four patients. MEG spike sources were shown in the operculo-insular region in 11 of 13 (84.6%) patients, including cluster spike sources in 7 patients and scatter spike sources in 4 patients. After MEG examination, the original plan of intracranial electrode implantation was changed in five patients. In these patients, electrodes exploring the operculo-insular cortex were not part of the original plan. The pathological examination showed focal cortical dysplasia (FCD) in 12 patients and FCD with heterotopia in 1 patient. Nine (69.2%)patients were seizure-free in 2-6 years' follow-up. CONCLUSIONS: MEG played an additional and valuable role in the localisation of operculo-insular epilepsy for patients with a negative MRI finding.

Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.

PURPOSE: Familial cortical myoclonic tremor with epilepsy (FCMTE) is an epileptic syndrome with autosomal dominant inheritance, of which four genetic subtypes (FCMTE1-4) have been reported. In the present study, we described the clinical and neurophysiologic features of a newly diagnosed Chinese FCMTE family, and investigated the genetic cause for this disease. METHODS: Clinical information was obtained from affected and normal individuals of an FCMTE family comprising 41 members. Electroencephalographies were analyzed in five of six affected members (including the proband). Brain magnetic resonance imaging, somatosensory evoked potential with C-reflex analysis and magnetoencephalography was performed in the proband. Genomic DNA of three affected and two unaffected individuals was analyzed to detect the genetic mutations by using whole-exome sequencing. RESULTS: The inheritance pattern of the pedigree was autosomal dominant. A novel missense mutation c.475C>T (p.Ala159Thr) of PLA2G6 were identified in this family. The mutated locus is highly conserved among other species. The mutation is predicted to have a functional impact, and completely co-segregated with the phenotype. CONCLUSION: This study identifies a novel PLA2G6 mutation that is the possible genetic cause of FCMTE in this family. This mutation and associated clinical features expand the spectrum and phenotypes of PLA2G6-related disorders including neurodegenerative diseases.

Clinical characterization of autoimmune LGI1 antibody limbic encephalitis.

OBJECTIVE: Autoimmune encephalitis associated with antibodies to leucine-rich glioma inactivated 1 (LGI1) has recently been identified and is characterized by an acute to subacute onset of cognitive impairment and convulsion, faciobrachial dystonic seizures (FBDSs), and psychiatric disturbances. This study analyzed the clinical characteristics and outcomes of 10 patients with LGI1 antibody encephalitis in order to further understand this disease and to improve its therapeutic strategies. METHODS: Between January 2013 and March 2015, we identified 10 patients with LGI1 antibody encephalitis. We retrospectively analyzed the clinical details, laboratory results, electrophysiological and imaging findings, and the treatment outcomes. RESULTS: All patients tested had LGI1 antibodies. Immunotherapy was effective in all patients. Seizures in patients with FBDS showed a poor response to antiepileptic drugs. Two patients examined by magnetoencephalogram (MEG) during the acute disease phase showed a small quantity of spike-wave dipoles in the temporal lobe close to the lateral fissure and insular lobe. CONCLUSION: Patients with LGI1 antibody encephalitis responded well to immunotherapy. We speculate that FBDS is likely a form of insular epilepsy.

Cognitive impairment in generalized anxiety disorder revealed by event-related potential N270.

BACKGROUND: Cognitive function in anxiety disorders has been the subject of limited investigation, especially in generalized anxiety disorder (GAD). The purpose of this study was to investigate the cognitive function in subjects with GAD using mismatch-triggered negativity N270. METHODS: Fifteen medication-free patients with a DSM-IV diagnosis of GAD, and 15 well-matched healthy controls performed a dual-feature delayed matching task while event-related potentials were recorded from their scalp. RESULTS: The GAD group was characterized by the decreased N270 amplitude in the left hemisphere. The smaller N270 amplitude was associated with greater symptoms of anxiety and depression. CONCLUSION: Since N270 is thought to index cognitive function in different domains, including attention and memory, our results suggest that individuals with GAD have an impaired cognitive function, particularly in selective attention and working memory. These cognitive deficits may have clinical significance in subjects with GAD and should be considered in treatment planning.

Event-related potentials in adolescents with different cognitive styles: field dependence and field independence.

Field dependence/independence (FD/FI) is an important dimension of personality and cognitive styles. Different ability in mobilizing and/or allocating mental-attentional capacity was considered to be the most possible explanation for the FDI cognitive style. Many studies on characterizing the functional neuroanatomy of attentional control indicated the existence of a dissociable sub-process of conflict-monitoring and "cognitive control" system. However, little was known about it. We might dissociate "cognitive control" system from conflict processing by taking advantage of the variable of the FDI cognitive style. In addition, essentially cognitive styles (FDI) are often widely studied in psychological and educational fields, but hardly in neuroscience. We speculated that ERP components could help to explain the difference between how FD and FI individuals process information. The purpose of the reported study was to explore the possible relation between the "cognitive control" system and the conflict processing system during stimulus-matching task. We first characterized the standard FD/FI of senior-high-school Han students in grade two in Beijing, China, based on 160 students with similar age, education, living and cultural background. Twenty-six adolescents were selected and divided into two groups (extreme FD group and extreme FI group) according to their Group Embedded Figures Test (GEFT) results (FD: 5-8; FI: 17-19). They were tested on both Wechsler Adult Intelligence Scale (WAIS) and stimulus-matching task. ERP was measured while the subjects performed the stimulus-matching tasks by categorizing two figures that were presented sequentially either as a match (same shape) or as a conflict (different shape) conditions. The results showed that the mean amplitude of N270 in FI group was higher relative to that in FD group at nearly all centrofrontal areas in the conflict condition. We conclude that the FDI cognitive styles could influence the conflict processing by the "cognitive control" system due to the different abilities of FD and FI subjects in mobilizing and/or allocating attentional resources, which can be indexed by N270.