Widespread slow oscillations support interictal epileptiform discharge networks in focal epilepsy.

Interictal epileptiform discharges (IEDs) often co-occur across spatially-separated cortical regions, forming IED networks. However, the factors prompting IED propagation remain unelucidated. We hypothesized that slow oscillations (SOs) might facilitate IED propagation. Here, the amplitude and phase synchronization of SOs preceding propagating and non-propagating IEDs were compared in 22 patients with focal epilepsy undergoing intracranial electroencephalography (EEG) evaluation. Intracranial channels were categorized into the irritative zone (IZ) and normal zone (NOZ) regarding the presence of IEDs. During wakefulness, we found that pre-IED SOs within the IZ exhibited higher amplitudes for propagating IEDs than non-propagating IEDs (delta band: p = 0.001, theta band: p < 0.001). This increase in SOs was also concurrently observed in the NOZ (delta band: p = 0.04). Similarly, the inter-channel phase synchronization of SOs prior to propagating IEDs was higher than those preceding non-propagating IEDs in the IZ (delta band: p = 0.04). Through sliding window analysis, we observed that SOs preceding propagating IEDs progressively increased in amplitude and phase synchronization, while those preceding non-propagating IEDs remained relatively stable. Significant differences in amplitude occurred approximately 1150 ms before IEDs. During non-rapid eye movement (NREM) sleep, SOs on scalp recordings also showed higher amplitudes before intracranial propagating IEDs than before non-propagating IEDs (delta band: p = 0.006). Furthermore, the analysis of IED density around sleep SOs revealed that only high-amplitude sleep SOs demonstrated correlation with IED propagation. Overall, our study highlights that transient but widely distributed SOs are associated with IED propagation as well as generation in focal epilepsy during sleep and wakefulness, providing new insight into the EEG substrate supporting IED networks.

Seizures and electrophysiological features in familial cortical myoclonic tremor with epilepsy 1.

OBJECTIVES: To investigate and characterize epileptic seizures and electrophysiological features of familial cortical myoclonic tremor with epilepsy (FCMTE) type 1 patients in a large Chinese cohort. METHODS: We systematically evaluated 125 FCMTEtype 1 patients carrying the pentanucleotide (TTTCA) repeat expansion in the SAMD12 gene in China. RESULTS: Among the 28 probands, epileptic seizures (96.4%, 27/28) were the most common reason for an initial clinic visit. Ninety-seven (77.6%, 97/125) patients had experienced seizures. The seizures onset age was 36.5 ± 9.0 years, which was 6.9 years later than cortical tremors. The seizures were largely rare (<1/year, 58.8%) and occasional (1-6/year, 37.1%). Prolonged prodromes were reported in 57.7% (56/97). Thirty-one patients (24.8%, 31/125) reported photosensitivity history, and 79.5% (31/39) had a photoparoxysmal response. Interictal epileptiform discharges (IEDs) were recorded in 69.1% (56/81) of patients. Thirty-three patients showed generalized IEDs and 72.7% (24/33) were occipitally dominant, while 23 patients presented with focal IEDs with 65.2% (15/23) taking place over the occipital lobe. Overnight EEG of FCMTE patients displayed paradoxical sleep-wake fluctuation, with a higher average IED index of 0.82 ± 0.88/min during wakefulness and a lower IED index of 0.04 ± 0.06/min during non-rapid eye movement sleep stages I-II. INTERPRETATION: FCMTE type 1 has a benign course of epilepsy and distinct clinical and electrophysiological features. In addition to a positive family history and cortical myoclonus tremor, the seizure prodromes, specific seizure triggers, photosensitivity, distribution of IEDs, and unique fluctuations during sleep-wake cycle are cues for proper genetic testing and an early diagnosis of FCMTE.

Ictal EEG desynchronization during low-voltage fast activity for prediction of surgical outcomes in focal epilepsy.

OBJECTIVE: The authors investigated alterations in functional connectivity (FC) and EEG power during ictal onset patterns of low-voltage fast activity (LVFA) in drug-resistant focal epilepsy. They hypothesized that such changes would be useful to classify epilepsy surgical outcomes. METHODS: In a cohort of 79 patients with drug-resistant focal epilepsy who underwent stereoelectroencephalography (SEEG) evaluation as well as resective surgery, FC changes during the peri-LVFA period were measured using nonlinear regression (h2) and power spectral properties within/between three regions: the seizure onset zone (SOZ), early propagation zone (PZ), and noninvolved zone (NIZ). Desynchronization and power desynchronization h2 indices were calculated to assess the degree of EEG desynchronization during LVFA. Multivariate logistic regression was employed to control for confounding factors. Finally, receiver operating characteristic curves were generated to evaluate the performance of desynchronization indices in predicting surgical outcome. RESULTS: Fifty-three patients showed ictal LVFA and distinct zones of the SOZ, PZ, and NIZ. Among them, 39 patients (73.6%) achieved seizure freedom by the final follow-up. EEG desynchronization, measured by h2 analysis, was found in the seizure-free group during LVFA: FC decreased within the SOZ and between regions compared with the pre-LVFA and post-LVFA periods. In contrast, the non-seizure-free group showed no prominent EEG desynchronization. The h2 desynchronization index, but not the power desynchronization index, enabled classification of seizure-free versus non-seizure-free patients after resective surgery. CONCLUSIONS: EEG desynchronization during the peri-LVFA period, measured by within-zone and between-zone h2 analysis, may be helpful for identifying patients with favorable postsurgical outcomes and also may potentially improve epileptogenic zone identification in the future.

Efficacy of the ketogenic diet in Chinese adults versus children with drug-resistant epilepsy: A pilot study.

OBJECTIVE: We compared the efficacy and safety of ketogenic diet (KD) therapy as a treatment for Chinese adults versus children with drug-resistant epilepsy. METHODS: The classic KD was initiated in 19 adults and 29 children with drug-resistant epilepsy. The KD ratio and the dosage of antiseizure medication (ASM) were delicately modulated by the ketogenic team. RESULTS: At 12 months after diet initiation, 11 adults (8 on a KD ratio of 3:1 and 3 on a ratio of 2:1) and 20 children (9 on a ketogenic diet ratio of 3:1 and 11 on a ratio of 2:1) remained on the diet. The retention rate for adult KD therapy recipients was 79.0% at 6 months and 57.9% at 12 months after diet initiation, which was not significantly different from the retention rate for children (82.8% at 6 months and 68.9% at 12 months; P > 0.05). The efficacy rate of KD therapy (seizure freedom or ≥50% reduction in seizure frequency) did not significantly differ between adults (63.2%) and children (75.8%, P = 0.517). Alleviation of seizure severity was observed in 68.4% of adults and 63.6% of children who were not seizure free on KD therapy. Antiseizure medication was reduced in 34 out of all 48 individuals at the final follow-up. CONCLUSION: Our study demonstrated that KD therapy is a safe and effective treatment for Chinese adults as well as children with drug-resistant epilepsy.

Clinical Characteristics and Prognostic Significance of Subclinical Seizures in Focal Epilepsy: A Retrospective Study.

INTRODUCTION: The aim was to evaluate the clinical characteristics and prognostic significance of subclinical seizures (SCSs) on scalp video-electroencephalogram (VEEG) monitoring with or without intracranial electroencephalogram (IEEG) monitoring in patients who had epilepsy surgery. METHODS: We reviewed 286 epileptic patients who underwent subsequent epilepsy surgery during scalp-VEEG evaluation with or without IEEG monitoring between 2013 and 2020, with a minimum follow-up of 1 year. The prevalence and clinical characteristics of SCSs, as well as their prognostic significance, were analyzed. RESULTS: A total of 286 patients were enrolled for analysis, and 80 patients had IEEG implanted. SCSs were recorded in 9.79% of the patients based on VEEG and 50% based on IEEG. In the VEEG group (n = 286), younger seizure onset (P = 0.004) was associated with the presence of s-SCSs (SCSs detected on scalp VEEG). In the IEEG group (n = 80), temporal lobe epilepsy (P = 0.015) was associated with the presence of i-SCSs (SCSs detected on IEEG). Of 286 patients, 208 (72.73%) were seizure-free in the VEEG group, and 56 0f 80 patients (70%) were seizure-free in the IEEG group through the last follow-up. In the VEEG group, the presence of s-SCSs did not affect seizure outcome; predictors of seizure recurrence were longer epilepsy duration (P = 0.003, OR 1.003, 95% CI 1.001-1.005), history of focal to bilateral tonic-clonic seizure (P = 0.027, OR 1.665, 95% CI 1.060-2.613), nonspecific pathology (P = 0.018, OR 2.184, 95% CI 1.145-4.163), and incomplete resection (P = 0.004, OR 2.705, 95% CI 1.372-5.332). In the IEEG group, i-SCSs were significantly associated with seizure outcome (P = 0.028, OR 0.371, 95% CI 0.153-0.898). CONCLUSION: The rate of SCSs captured on IEEG monitoring was higher than that on VEEG monitoring during presurgical evaluation. SCSs detected on VEEG monitoring were associated with younger seizure onset. SCSs detected on IEEG monitoring were associated with temporal lobe epilepsy and also predicted surgical outcomes in focal epilepsy.

Focal cortical dysplasia links to sleep-related epilepsy in symptomatic focal epilepsy.

OBJECTIVE: In sleep-related epilepsy (SRE), epileptic seizures predominantly occur during sleep, but the clinical characteristics of SRE remain elusive. We aimed to identify the clinical features associated with the occurrence of SRE in a large cohort of symptomatic focal epilepsy. METHODS: We retrospectively included patients with four etiologies, including focal cortical dysplasia (FCD), low-grade tumors (LGT), temporal lobe epilepsy with hippocampal sclerosis (TLE-HS), and encephalomalacia. SRE was defined as more than 70% of seizures occurring during sleep according to the seizure diary. The correlation between SRE and other clinical variables, such as etiology of epilepsy, pharmacoresistance, seizure frequency, history of bilateral tonic-clonic seizures, and seizure localization was analyzed. RESULTS: A total of 376 patients were included. Among them 95 (25.3%) were classified as SRE and the other 281(74.7%) as non-SRE. The incidence of SRE was 53.5% in the FCD group, which was significantly higher than the other three groups (LGT: 19.0%; TLE-HS: 9.9%; encephalomalacia: 16.7%; P < 0.001). The etiology of FCD (p < 0.001) was significantly associated with SRE (OR: 9.71, 95% CI: 3.35-28.14) as an independent risk factor. In addition, small lesion size (p = 0.009) of FCD further increased the risk of SRE (OR: 3.18, 95% CI: 1.33-7.62) in the FCD group. SIGNIFICANCE: Our data highlight that FCD markedly increased the risk of sleep-related epilepsy independently of seizure localization. A small lesion of FCD further increased the risk of sleep-related epilepsy by 2.18 times in the FCD group.

Effect of a Compound Energy Field with Temperature and Ultrasonic Vibration on the Material Properties and Bending Process of TC2 Titanium Alloy.

Due to the low formability and forming quality of titanium alloy, the forming process of a compound energy field (CEF) with temperature and ultrasonic vibration was proposed. Tensile tests were carried out to investigate the effect of the CEF on the true stress-strain curve, yield strength, elastic modulus, and other mechanical properties of the TC2 titanium alloy. Bending tests assisted by CEF were also performed to investigate the effect of different parameters of the CEF on bending force, spring-back, bending fillet radius, and microstructure of TC2 titanium. The results demonstrate that compared to the process under a single-temperature field, the CEF can reduce yield strength, elastic modulus, bending force, bending fillet, and the spring-back angle, which shows that the CEF can further increase the high-temperature softening effect of TC2 titanium. Furthermore, this effect becomes more remarkable when ultrasonic vibration energy increases. As a result, the formability of titanium alloy can be improved.

Distinguishing Focal Cortical Dysplasia From Glioneuronal Tumors in Patients With Epilepsy by Machine Learning.

Purpose: We are aiming to build a supervised machine learning-based classifier, in order to preoperatively distinguish focal cortical dysplasia (FCD) from glioneuronal tumors (GNTs) in patients with epilepsy. Methods: This retrospective study was comprised of 96 patients who underwent epilepsy surgery, with the final neuropathologic diagnosis of either an FCD or GNTs. Seven classical machine learning algorithms (i.e., Random Forest, SVM, Decision Tree, Logistic Regression, XGBoost, LightGBM, and CatBoost) were employed and trained by our dataset to get the classification model. Ten features [i.e., Gender, Past history, Age at seizure onset, Course of disease, Seizure type, Seizure frequency, Scalp EEG biomarkers, MRI features, Lesion location, Number of antiepileptic drug (AEDs)] were analyzed in our study. Results: We enrolled 56 patients with FCD and 40 patients with GNTs, which included 29 with gangliogliomas (GGs) and 11 with dysembryoplasic neuroepithelial tumors (DNTs). Our study demonstrated that the Random Forest-based machine learning model offered the best predictive performance on distinguishing the diagnosis of FCD from GNTs, with an F1-score of 0.9180 and AUC value of 0.9340. Furthermore, the most discriminative factor between FCD and GNTs was the feature "age at seizure onset" with the Chi-square value of 1,213.0, suggesting that patients who had a younger age at seizure onset were more likely to be diagnosed as FCD. Conclusion: The Random Forest-based machine learning classifier can accurately differentiate FCD from GNTs in patients with epilepsy before surgery. This might lead to improved clinician confidence in appropriate surgical planning and treatment outcomes.

Self-healing of damage inside metals triggered by electropulsing stimuli.

The microscopic defects that distributed randomly in metals are not only hard to detect, but also may inevitably cause catastrophic failure. Thus, autonomic probing and healing for damage inside metals continue to be a challenging. Here we show a novel approach for self-healing using electropulsing as a stimulus to trigger repairing of damaged metals. This is achieved via a process that through expelling absolutely currents, the microcrack causes them to be redistributed to form a concentrated and a diluted region around it, thereby inducing an extremely high temperature gradient and a large compressive stress, which drive material flow to close microcracks. Simultaneously, a large enough heat for bonding atoms was produced. That is, the microcrack as an empty cavity can be regarded as a special micro-device to shape a localized microscopic energy field, which in turn activates a healing process. The microstructure and mechanical property verified the extrinsic self-healing of a titanium alloy. The process is performed on a short timescale, is enable to detect automatically and act directly on the internal defects in metals, and to heal damage without any healing agent, long time heating as well as applied high pressure, offering unique advantages over conventional healing approaches.

Clinical value and predictors of subclinical seizures in patients with temporal lobe epilepsy undergoing scalp video-EEG monitoring.

The aim of this study was to determine the clinical importance and predictors of SCSs in a large population of patients with temporal epilepsy (TLE) undergoing video electroencephalographic (VEEG) monitoring. We reviewed the VEEG data of 327 consecutive patients with TLE admitted to our epilepsy center between August 2012 and January 2017. Demographic, electro-clinical, and neuroimaging data were recorded and re-analyzed. To our knowledge, this is the first study assessing SCSs recorded by long-term VEEG monitoring in patients with TLE. Twenty-seven of 327 (8.3%) patients exhibited SCSs during VEEG monitoring. Of these patients, 24 had both SCSs and clinical seizures. The mean duration of the SCSs was 23.18s (range: 5-1307s). Of the 27 patients with SCSs, 24 (88.9%) showed localizing value during the diagnostic process. Seventeen patients exhibited colocalization with clinical seizures, 4 showed useless localization related to clinical seizures, and 3 did not have clinical seizures. Sixteen patients (59.3%) experienced their first SCSs within the first 24h of monitoring and one had the first SCSs within 20min. Multivariate logistic regression analysis showed that age <18years at VEEG monitoring (OR=3.272, 95% CI=1.283-8.343, p=0.013) and bilateral IEDs (OR=4.558, 95% CI=1.982-10.477, p<0.001) were independently associated with the presence of SCSs. Thus, SCSs are not uncommon in patients with TLE, particularly those with age <18years or bilateral IEDs, and should be considered of significant clinical relevance during the diagnostic process.

[Monitoring time of interictal epileptiform discharges by long-term video EEG in patients with epilepsy].

Objective: To optimize the monitoring time of interictal epileptiform discharges (IED) in patients with epilepsy by long-term video electroencephalogram (VEEG). Methods: The cumulative percentages of IED detected by VEEG in 346 epilepsy patients (349 times) with different purposes, different waking sleep states and different MRI findings were retrospectively analyzed. According to the purposes, there were 164 patients (165 times) for clarifying diagnosis, 124 patients (124 times) for preoperative evaluation and 58 patients (60 times) for adjustment of medications. According to MRI results, there were responsible lesions in 98 patients (98 times) and no responsible lesions in 173 patients (174 times). Results: Among 346 patients (349 times), IED was detected within 24 h in 231 patients (times). The percentage of detection in patients with purpose of preoperative evaluation was higher than those with purpose of diagnosis and medication adjustment. The detection of LED was gradually increased in first 8 h with 59.0%, then stably in 24 h. 46.8% IED was recorded during sleep time, particularly in the second stage of sleep. The cumulative percentage of IED in patients with abnormal MRI findings was higher in all periods. It reached 83.7% within 8 h, and then tended to be stable. Conclusion: The study shows that LED should be monitored by VEEG at least 8 hours and should include the second stage of sleep in patients with epilepsy. Patients with refractory epilepsy and with abnormal lesions on MRI should record IED more frequently.

Prevalence and predictors of subclinical seizures during scalp video-EEG monitoring in patients with epilepsy.

OBJECTIVE: This study first aimed to establish the prevalence and predictors of subclinical seizures in patients with epilepsy undergoing video electroencephalographic monitoring, then to evaluate the relationship of sleep/wake and circadian pattern with subclinical seizures. METHODS: We retrospectively reviewed the charts of 742 consecutive patients admitted to our epilepsy center between July 2012 and October 2014. Demographic, electro-clinical data and neuroimage were collected. RESULTS: A total of 148 subclinical seizures were detected in 39 patients (5.3%) during video electroencephalographic monitoring. The mean duration of subclinical seizures was 47.18 s (range, 5-311). Pharmacoresistant epilepsy, abnormal MRI and the presence of interictal epileptiform discharges were independently associated with subclinical seizures in multivariate logistic regression analysis. Subclinical seizures helped localizing the presumed epileptogenic zone in 24 (61.5%) patients, and suggested multifocal epilepsy in five (12.8%). In addition, subclinical seizures occurred more frequently in sleep and night than wakefulness and daytime, respectively, and they were more likely seen between 21:00-03:00 h, and less likely seen between 09:00-12:00 h. Thirty patients (76.9%) had their first subclinical seizures within the first 24 h of monitoring while only 7.7% of patients had their first subclinical seizures detected within 20 min. CONCLUSION: Subclinical seizures are not uncommon in patients with epilepsy, particularly in those with pharmacoresistant epilepsy, abnormal MRI or interictal epileptiform discharges. Subclinical seizures occur in specific circadian patterns and in specific sleep/wake distributions. A 20-min VEEG monitoring might not be long enough to allow for their detection.

Decreased Network Efficiency in Benign Epilepsy with Centrotemporal Spikes.

Purpose To investigate the functional connectome alterations in benign epilepsy with centrotemporal spikes with respect to the occurrence of interictal epileptic discharges (IEDs) during functional magnetic resonance (MR) imaging. Materials and Methods This prospective study was approved by the local institutional review board and was HIPAA compliant. All participants were consecutively enrolled with written informed consent. Forty-three right-handed patients were classified into IED (n = 20, 13 girls and seven boys; mean age ± standard deviation, 9.00 years ± 1.95) and non-IED (n = 23, 11 girls and 12 boys; mean age, 10.22 years ± 2.13) groups on the basis of electroencephalographic data simultaneously recorded during resting-state functional MR imaging at 3.0 T. The functional connectome features (estimated with graph theoretical analysis) in patient groups and control subjects who were matched for sex, age, and education level (n = 28, all right-handed, 13 girls and 15 boys; mean age, 10.00 years ± 2.31) were compared by using one-way analysis of variance. Results Patients with IEDs and those without IEDs showed consistently abnormal global topology in their functional networks (ie, decreased global efficiency; P < .05) relative to that of control subjects, with no differences between the two patient groups (P > .05). Decreased regional efficiency and connectivity strength were observed in the patients with IEDs and those without (mainly in the perirolandic and frontal areas) relative to control subjects (P < .05). Moreover, the altered functional features significantly correlated with clinical characteristics (ie, disease duration and age at symptom onset, P < .05). Conclusion These findings suggest that decreased global and regional efficiency are prominent functional deficits in children with benign epilepsy with centrotemporal spikes and can be readily identified with resting-state functional MR imaging, irrespective of IEDs. © RSNA, 2016 Online supplemental material is available for this article.

Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy.

OBJECTIVE: Familial cortical myoclonic tremor with epilepsy is a rare epilepsy syndrome. Herein, we report on nine Chinese familial cortical myoclonic tremor with epilepsy pedigrees to delineate its clinical and neurophysiological features. METHODS: Detailed clinical and neurophysiological data were obtained. Somatosensory evoked potential amplitudes and clinical profile were analyzed using multilevel statistical models. Age-at-onset anticipation was analyzed using Kaplan-Meier survival analysis. RESULTS: Fifty-five patients were interviewed directly, whose mean age at onset of cortical tremor and generalized tonic-clonic seizures were 31.0 ± 8.3 and 36.0 ± 7.9 years. Giant somatosensory evoked potential was detected in 87.5% (28 of 32) of patients, and long-latency cortical reflex was detected in 93.5% (29 of 31). Cortical tremor severity was significantly higher in patients with longer disease duration of cortical tremor (P = 0.0061). Somatosensory evoked potential amplitudes were significant higher in patients with higher level of cortical tremor severity (P = 0.0003) and those using antiepileptic drugs (P = 0.0150). Age-at-onset anticipation of cortical tremor with paternal transmission was found with statistical significance (P = 0.022). CONCLUSION: We provided the clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy patients. This study is reported for the presentation of this rare disease in a Chinese population with the largest single report on familial cortical myoclonic tremor with epilepsy worldwide. Age-at-onset anticipation of cortical tremor with paternal transmission was statistically significant, which further confirmed a possibility of unstable expanding repeat in the genetic mechanism of familial cortical myoclonic tremor with epilepsy. © 2016 International Parkinson and Movement Disorder Society.

Postictal generalized EEG suppression after generalized convulsive seizures: A double-edged sword.

OBJECTIVE: The aim of this study is to investigate the key facilitating factors for postictal generalized EEG suppression (PGES) in a large cohort of patients with generalized convulsive seizures (GCSs). METHODS: We retrospectively reviewed the data of consecutive patients who had GCSs in the epilepsy monitoring units of two epilepsy centers. Statistical analysis was performed to assess specific variables as potential risk factors for PGES. RESULTS: Among the 208 enrolled patients with 366 seizures, PGES was observed in 109 (51.9%) patients and 168 (45.9%) GCSs. The mean duration of PGES was 33.2 ± 12.0 s (34 s, 3-70 s). PGES or severe PGES (>20 s) was associated with more severe postictal coma and temporal lobe epilepsy. Moreover, PGES was independently associated with a longer tonic duration, shorter total seizure duration, and lower habitual seizure frequency. CONCLUSIONS: PGES is strongly correlated not only with longer tonic duration, but also with shorter total seizure duration and lower habitual seizure frequency. SIGNIFICANCE: PGES may represent a switch-off inhibitory mechanism in seizure termination; moreover, it may indicate the efficacy of a long-lasting inhibitory network that suppresses GCS ictogenesis.

Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family.

Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant epilepsy syndrome. Four loci, including 8q24 (FCMTE1), 2p11.1-q12.2 (FCMTE2), 5p15.31-p15.1 (FCMTE3), and 3q26.32-3q28 (FCMTE4) were previously reported. Herein, we report a new FCMTE1 pedigree from Chinese population with its clinical and genetic study results. Whole genome scan was performed to identify the causative gene region and copy number variants. Whole-exome sequencing was used to identify the causative gene. There were twelve affected members alive in this FCMTE1 pedigree. Nine affected members had both cortical myoclonic tremor and epilepsy, while three affected members had only cortical myoclonic tremor. Electrophysiologic examinations manifested giant somatosensory evoked potentials and long-latency cortical reflex in some affected members. Whole genome scan identified a 20.4 Mb causative gene region at 8q22.3-q24.13. No copy number variants were identified as the causative mutation. Whole-exome sequencing identified a co-segregated mutation (c.206A>T; p.Y69F) in the SLC30A8 gene. However, the evidence supporting this gene as the causative gene of FCMTE1 is not enough. We report the first Chinese FCMTE1 pedigree. No copy number variants, point mutation or small insertion/deletion were detected in the identified region that showed an association with FCMTE1. Further studies could focus on other possible genetic mechanisms while the association between the SLC30A8 and FCMTE1 needs further evidence.

Intrinsic brain activity as a diagnostic biomarker in children with benign epilepsy with centrotemporal spikes.

Benign epilepsy with centrotemporal spikes (BECTS) is often associated with neural circuit dysfunction, particularly during the transient active state characterized by interictal epileptiform discharges (IEDs). Little is known, however, about the functional neural circuit abnormalities in BECTS without IEDs, or if such abnormalities could be used to differentiate BECTS patients without IEDs from healthy controls (HCs) for early diagnosis. To this end, we conducted resting-state functional magnetic resonance imaging (RS-fMRI) and simultaneous Electroencephalogram (EEG) in children with BECTS (n = 43) and age-matched HC (n = 28). The simultaneous EEG recordings distinguished BECTS with IEDs (n = 20) from without IEDs (n = 23). Intrinsic brain activity was measured in all three groups using the amplitude of low frequency fluctuation at rest. Compared to HC, BECTS patients with IEDs exhibited an intrinsic activity abnormality in the thalamus, suggesting that thalamic dysfunction could contribute to IED emergence while patients without IEDs exhibited intrinsic activity abnormalities in middle frontal gyrus and superior parietal gyrus. Using multivariate pattern classification analysis, we were able to differentiate BECTS without IEDs from HCs with 88.23% accuracy. BECTS without epileptic transients can be distinguished from HC and BECTS with IEDs by unique regional abnormalities in resting brain activity. Both transient abnormalities as reflected by IEDs and chronic abnormalities as reflected by RS-fMRI may contribute to BECTS development and expression. Intrinsic brain activity and multivariate pattern classification techniques are promising tools to diagnose and differentiate BECTS syndromes. Hum Brain Mapp 36:3878-3889, 2015. © 2015 Wiley Periodicals, Inc.

Analyzing reliability of seizure diagnosis based on semiology.

This study aimed to determine the accuracy of seizure diagnosis by semiological analysis and to assess the factors that affect diagnostic reliability. A total of 150 video clips of seizures from 50 patients (each with three seizures of the same type) were observed by eight epileptologists, 12 neurologists, and 20 physicians (internists). The videos included 37 series of epileptic seizures, eight series of physiologic nonepileptic events (PNEEs), and five series of psychogenic nonepileptic seizures (PNESs). After observing each video, the doctors chose the diagnosis of epileptic seizures or nonepileptic events for the patient; if the latter was chosen, they further chose the diagnosis of PNESs or PNEEs. The overall diagnostic accuracy rate for epileptic seizures and nonepileptic events increased from 0.614 to 0.660 after observations of all three seizures (p < 0.001). The diagnostic sensitivity and specificity of epileptic seizures were 0.770 and 0.808, respectively, for the epileptologists. These values were significantly higher than those for the neurologists (0.660 and 0.699) and physicians (0.588 and 0.658). A wide range of diagnostic accuracy was found across the various seizures types. An accuracy rate of 0.895 for generalized tonic-clonic seizures was the highest, followed by 0.800 for dialeptic seizures and then 0.760 for automotor seizures. The accuracy rates for myoclonic seizures (0.530), hypermotor seizures (0.481), gelastic/dacrystic seizures (0.438), and PNESs (0.430) were poor. The reliability of semiological diagnosis of seizures is greatly affected by the seizure type as well as the doctor's experience. Although the overall reliability is limited, it can be improved by observing more seizures.