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It is urgent to effectively monitor the public opinion of the news communication platform. The platform designed in this paper takes microblog public opinion as the research goal, uses MongoDB to build a distributed computing platform for sensitive information of news communication platform, establishes a corpus of sensitive event topics, introduces PageRank algorithm to deal with microblog social relations, obtains the characteristics of sensitive information of news communication platform, and carries out information screening, so as to accurately screen and mine the keywords in high impact information. To ensure the practical application effect of sensitive information mining method of news communication platform based on big data analysis. Finally, the experiment proves that the sensitive information mining method of news communication platform based on big data analysis has the advantages of high timeliness and high accuracy, which fully meets the research requirements. This is fully in line with the requirements of the study. [ABSTRACT FROM AUTHOR]

Objective To investigate the general characteristics and the category of myoclonic epilepsy in infancy (MEI) with or without afebrile generalized tonic-clonic seizures (GTCS). Methods Thirty-three children were retrospectively recruited from approximately 42,814 video-electroencephalogram (VEEG) recordings monitored in our department over last nearly 10 years. Myoclonic seizures (MS) must be identified by VEEG in all patients. The clinical, EEG features and outcome were analyzed among these patients. Results The 33 patients (25 boys and 8 girls) were divided into three groups: 11 patients with typical MEI; 16 patients with MEI experienced afebrile GTCS before MS onset; and 6 patients with MEI presented afebrile GTCS occurring concurrently with MS. No significant differences were found among the three groups, including gender distribution, family history, personal history of febrile seizures, the age at seizure onset and control, the duration of MS, the interval between age at onset and seizure control, the age at EEG normalization, the interval between seizure onset age and EEG normalization age and normal psychomotor development at the end of follow-up. More patients in group two and group three were controlled by two or three kinds of antiepileptic drugs compared with those in group one. Conclusions In this study, three groups of patients had similar clinical, EEG features and outcome. Afebrile GTCS was associated with a stronger cortical hyperexcitability. It was worth considering whether MEI with preceding or concurrent afebrile GTCS should be recognized as subgroups or different epileptic syndromes independent of MEI. [ABSTRACT FROM AUTHOR]

Objective To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification. Methods Forty-two children were retrospectively recruited between January 2006 and June 2015. Results The mean age of seizure onset was 40.5 months. They were divided into 4 groups: myoclonic seizures alone; predominant myoclonus combined with GTCS; predominant myoclonus combined with absences; predominant myoclonus combined with both GTCS and absences. Interictal EEG showed generalized spike- or polyspike-wave discharges at 2–4 Hz. Seizures were controlled in 22 patients at a mean age of 60.5 months. The psychomotor development was normal (30/37) or mildly delayed (7/37). Conclusions We reported a cohort of patients with early childhood myoclonic epilepsy (ECME), with the following characteristics: Seizures started below 5 years old in otherwise normal children; Seizure types included myoclonic seizures alone or combined with GTCS and/or absences; Febrile or afebrile GTCS might appear firstly; Interictal EEG showed generalized spike- or polyspike-wave; Seizures usually were in remission before adolescence with normal development or mild cognitive or behavioral deficits in most. Significance ECME might be an independent epileptic syndrome not established by International League Against Epilepsy (ILAE) previously. [ABSTRACT FROM AUTHOR]

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease. Three Chinese children with PDE were clinically analyzed, followed by treatment and examination of the ALDH7A1 mutations. The seizures of the 3 patients were all resistant to multiple anticonvulsants (2 to 7 types). For case 1, onset of seizures was at the age of 2 months. His seizures were well controlled by intravenous pyridoxine for several days at the age of 3 months 20 days and recurred at intervals of 13, 14 and 38 days after pyridoxine withdrawn for 3 times. At the age of 7 months, symptoms of PDE appeared and uninterrupted oral pyridoxine started. For case 2, her seizures occurred at 8 days after birth. After administration of multiple antiepileptic drugs observed ineffective, high-dose pyridoxine continuous therapy was taken at the age of 10 months and the significant treatment effect induced a diagnostic PDE. Seizure onset in case 3 was at the first day of birth. He experienced inadvertently pyridoxine therapy several times (first time at 2 days after birth) and achieved good therapeutic effect, which was confirmed by physicians until 4 months 10 days. The treatment process in our 3 patients suggested that pyridoxine should be early and purposefully used in patients with early onset seizures. ALDH7A1 gene mutation analysis revealed compound heterozygous mutations in each case: heterozygous c.410G>A (p.G137E) and IVS11+1G>A in case 1, heterozygous c.952G>C (p.A318P) and heterozygous c.965C>T (p.A322V) in case 2, and heterozygous c.902A>T (p.N301I) and IVS11+1G>A in case 3. Only p.N301I was reported previously, all other mutations were novel. This is the first time to report cases of Chinese patients diagnosed with PDE by molecular genetic analysis. [ABSTRACT FROM AUTHOR]

We report a 5-year-old boy with epilepsy and narcolepsy-cataplexy. He developed myoclonic seizures at the age of 4 years, which manifested as head shaking to the left. Approximately 6 months later, narcolepsy-cataplexy with excessive daytime sleepiness occurred. Although a short-time electroencephalography (EEG) and 24-hour ambulatory EEG monitoring found epileptiform discharges, no seizures were determined. Oxcarbazepine was used and led to increased attacks. Video EEG testing finally confirmed the diagnosis of epilepsy; therefore, valproate was given and seizures were controlled completely. Typical cataplexy triggered by laughing, together with the positive multiple sleep latency tests confirmed a diagnosis of narcolepsy-cataplexy. Human leukocyte antigens DQB1*0602 was positive, and the hypocretin level in cerebrospinal fluid was found to be decreased. Combination of valproate, methylphenidate, and clomipramine treatment improved the symptoms of both narcolepsy-cataplexy and seizure. The coexistence of both disorders in this single patient indicated that there might be a common mechanism between epilepsy and narcolepsy-cataplexy. [ABSTRACT FROM PUBLISHER]

Abstract: Objective: Startle epilepsy is one syndrome of reflex epilepsies. We studied its clinical and EEG characteristics. Methods: Analysis of the clinical and EEG characteristics of startle epilepsy. Results: Of 11 patients, five were female. Age of onset ranged from 5months to 7.5years. Abnormal etiologies were found in seven patients, as a result of perinatal and postnatal factors. Neuroimaging showed abnormalities, commonly focal atrophy, in nine patients. Spontaneous seizures preceded or followed the startle seizures and were present in all patients. Startle seizures experienced included tonic, myoclonic, tonic–myoclonic, tonic–atypical absence, asymmetric tonic motor seizure and tonic–clonic seizure. Diffuse electrodecremental pattern was the most common ictal EEG pattern seen. The triggering stimuli of the startle seizures were sound in seven patients, touch in three and both sound and touch in one. Interictal EEG revealed abnormalities in 10 patients including generalized, multifocal or focal discharges. Many different anti-epileptic drugs were often unsatisfactory. Conclusion: Startle epilepsies were often symptomatic reflex epilepsies and there were several types of startle seizure. The ictal EEG often showed a diffuse electrodecremental pattern. This disease has a bad prognosis. Significance: We delineated the clinical and EEG characteristics of startle epilepsy in childhood. [Copyright &y& Elsevier]

The mechanical properties and the topological structure of cross-sections found in Cybister elytra are presented. SEM images show the similar geometric structure in transverse and longitudinal sections. Elytra consist of several layers: a dense, black epicuticle, an exocuticle that is braided by several parallel chitin fiber layers in a helix structure, and many bridge piers formed by the fiber bundles that connect the exocuticle to the endodermis, forming a composite, light-weight biomaterial. The mechanical properties along the edge of elytra are measured using a nano-indenter. The hardness and modulus of fresh cybister elytra is 0.31 GPa and 6.13 GPa, respectively. The ultimate stresses of fresh elytra, measured by using a tensile test machine, are 169.2 MPa and 194.5 MPa in the transverse and longitudinal directions, respectively, which is twice higher than that of the dried one. The difference in the two directions indicates that this bio-material has been topologically optimized during evolution. The results may provide a biological template to inspire lightweight structure design for aerospace engineering. [ABSTRACT FROM AUTHOR]

Abstract: Objective. To investigate the clinical and neurophysiological characteristics, particularly therapeutic considerations, of epileptic negative myoclonus (ENM) in atypical benign partial epilepsy (ABPE) of childhood. Methods. From 1998 to 2006, 14/242 patients with benign children epilepsy with centrotemporal spikes (BECTS) were diagnosed as having ABPE with ENM. In all 14 patients, we performed video-EEG monitoring along with tests with the patient’s arms outstretched; 6/14 patients were also simultaneously underwent surface electromyogram (EMG). ENM manifestations, electrophysiological features, and responses to antiepileptic drugs were analyzed. Results. In all cases, ENM developed after the onset of epilepsy and during antiepileptic drug therapy, and the appearance of ENM were corresponding to EEG findings of high-amplitude spikes followed by a slow wave in the contralateral motor areas with secondary generalization. This was further confirmed by time-locked silent EMG. During ENM occurrence or recurrence, habitual seizures and interictal discharges were exaggerated. In some patients, the changes in antiepileptic drug regimens in relation to ENM appearance included add-on therapy with carbamazepine, oxcarbazepine, and phenobarbital or withdrawal of valproate. ENM was controlled in most cases by administration of various combinations of valproate, clonazepam, and corticosteroids. Conclusion. The incidence of ENM or ABPE in our center was approximately 5.79%. A combination of video-EEG monitoring with the patient’s arms outstretched and EMG is essential to identify ENM. The aggravation of habitual seizures and interictal discharges indicate ENM. Some antiepileptic drugs, such as carbamazepine, oxcarbazepine, and phenobarbital, may be related to ENM occurrence during spontaneous aggravation of ABPE. Various combinations of valproate, benzodiazepines, and corticosteroids are relatively effective for treating ENM that occurs in ABPE. [Copyright &y& Elsevier]

Botnets are a common and serious threat to the Internet. The search for the infected nodes of a P2P botnet is affected by the number of commonly connected nodes, with a lower detection accuracy rate for cases with fewer commonly connected nodes. However, this paper calculates the Mahalanobis distance—which can express correlations between data—between indirectly connected nodes through traffic with commonly connected nodes, and establishes a relationship evaluation model among nodes. An iterative algorithm is used to obtain the correlation coefficient between the nodes, and the threshold is set to detect P2P botnets. The experimental results show that this method can effectively detect P2P botnets with an accuracy of >85% when the correlation coefficient is high, even in cases with fewer commonly connected nodes. [ABSTRACT FROM AUTHOR]

A DDoS (Distributed Denial of Service) attack makes use of a botnet to launch attacks and cause node congestion of wireless sensor networks, which is a common and serious threat. Due to the various kinds of features required in a Peer-to-Peer (P2P) botnet for DDoS attack detection via current machine learning methods and the failure to effectively detect encrypted botnets, this paper extracts the data packet size and the symmetric intervals in flow according to the concept of graphic symmetry. Combined with flow information entropy and session features, the frequency domain features can be sorted so as to obtain features with better correlations, which solves the problem of multiple types of features required for detection. Information entropy corresponding to the flow size can distinguish an encrypted botnet. This method is implemented through machine learning techniques. Experimental results show that the proposed method can detect the P2P botnet for DDoS attack and the detection accuracy is higher than that of traditional feature detection. [ABSTRACT FROM AUTHOR]

A new method for generating frequency-octupling millimeter-wave (mm-wave) vector signals in optical fields via a Sagnac loop is proposed. In this scheme, two orthogonally polarized fourth order sidebands can be obtained through an integrated dual-polarization quadrature phase shift keying (DP-QPSK) modulator. The two optical sidebands are sent into an I/Q modulator-based Sagnac loop. The I/Q modulator is modulated by a 16QAM baseband signal. In the Sagnac loop, one of the sidebands is modulated by the baseband vector signal along one direction, and the other sideband is unmodulated along the opposite direction because the I/Q modulator has the traveling-wave nature. Thanks to this modulation property and the symmetrical structure of the Sagnac loop, a frequency-octupling mm-wave vector signal that is free from interband beating and fiber chromatic dispersion interference can be generated by the photodetector (PD). After simulating a 20 km single-mode fiber (SMF) transmission, the generated frequency-octupling vector signal was good in function. [ABSTRACT FROM AUTHOR]

To investigate electroclinical phenotypes and long-term photosensitivity outcome in a large pediatric cohort of patients with epilepsy with photosensitivity. Patients with epilepsy with photosensitivity with four or more years of follow-up were included. Sustained terminal remission (STR) of photosensitivity (≥3.5 years) and seizure control were investigated, as well as the prognostic factors of photosensitivity. Furthermore, a cluster analysis was used to study the different subgroups of photoparoxysmal responses (PPR). We included 190 individuals with a median age at diagnosis of photosensitivity of 93.1 months (interquartile range [IQR] 62.8 to 120 months) and a median follow-up duration of 68.5 months (IQR 51.8 to 84 months). STR of photosensitivity was achieved in 97 (51.1%) patients, and the mean time from age at diagnosis of photosensitivity onset to STR was 16.5 months. Age at the last follow-up (9 to 18 years [ P = 0.001]), a history of photoconvulsive response (PCR) (P = 0.009), and posterior epileptiform discharges (EDs) of PPRs (P = 0.05) were significantly associated with a lower chance of entering STR according to a Cox proportional hazards model. The subgroup of generalized epilepsy syndrome exhibited 46.2% of eye closure sensitivity and 47.7% of PCR. The rates of focal epilepsy syndrome (cluster 1), generalized epilepsy syndrome (cluster 2), and unclassified epilepsy (cluster 3) were similar and not statistically different in photosensitive outcome (P = 0.527). Age nine to 18 years, a history of PCR, and posterior EDs of PPRs were the adverse factors affecting photosensitivity, suggesting the effect of age-related brain changes in STR. There was no difference in the prognosis of photosensitivity in different epileptic syndromes. [ABSTRACT FROM AUTHOR]

Background: More than 50 loci are associated with spinocerebellar ataxia (SCA), and the most frequent subtypes share nucleotide repeats expansion, especially CAG expansion. Objective: The objective of this study was to confirm a novel SCA subtype caused by CAG expansion. Methods: We performed long‐read whole‐genome sequencing combined with linkage analysis in a five‐generation Chinese family, and the finding was validated in another pedigree. The three‐dimensional structure and function of THAP11 mutant protein were predicted. Polyglutamine (polyQ) toxicity of THAP11 gene with CAG expansion was assessed in skin fibroblasts of patients, human embryonic kidney 293 and Neuro‐2a cells. Results: We identified THAP11 as the novel causative SCA gene with CAG repeats ranging from 45 to 100 in patients with ataxia and from 20 to 38 in healthy control subjects. Among the patients, the number of CAA interruptions within CAG repeats was decreased to 3 (up to 5–6 in controls), whereas the number of 3′ pure CAG repeats was up to 32 to 87 (4–16 in controls), suggesting that the toxicity of polyQ protein was length dependent on the pure CAG repeats. Intracellular aggregates were observed in cultured skin fibroblasts from patients. THAP11 polyQ protein was more intensely distributed in the cytoplasm of cultured skin fibroblasts from patients, which was replicated with in vitro cultured neuro‐2a transfected with 54 or 100 CAG repeats. Conclusions: This study identified a novel SCA subtype caused by intragenic CAG repeat expansion in THAP11 with intracellular aggregation of THAP11 polyQ protein. Our findings extended the spectrum of polyQ diseases and offered a new perspective in understanding polyQ‐mediated toxic aggregation. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

The feature extraction from electroencephalogram (EEG) signals is widely used for computer-aided epileptic seizure detection. However, multiple channels of EEG signals and their correlations have not been completely harnessed. In this article, a novel automatic seizure detection approach is proposed by analyzing the spatiotemporal correlation of multi-channel EEG signals. This approach combines the maximum cross-correlation, robust-principal component analysis, and least square-support vector machine to detect the events. Our proposed method delivers higher detection sensitivity, specificity, and accuracy than the state-of-the-art approaches based on the 19 channels' EEG signals of 37 absence epilepsy patients experiencing 57 seizure events. [ABSTRACT FROM AUTHOR]

Approximately 50% of patients with tuberous sclerosis complex (TSC) present intractable epilepsy, and surgery is an option for those patients. Hereby, we analyze long-term seizure control and neuropsychological outcomes of epilepsy surgery in patients with TSC. Clinical data were retrospectively collected from 66 patients with TSC and epilepsy followed up over 5 years, 51 of whom underwent epilepsy surgery between 2001 and 2011. Reductions in the number of seizures were analyzed at 1-year (1FU), 5-year (5FU), and 10-year (10FU) follow-ups visits after the operation. Influential factors on postoperative seizure free and intelligence quotient (IQ) and quality-of-life (QOL) outcomes were evaluated at 5FU. Resective procedures included 26 tuber resections, 15 lobectomies, and 10 tuber resections and lobectomies. Corpus callosotomies were performed as the adjunctive approach in 11 cases with low IQ. The percentages of seizure-free cases were 74.5% at 1FU, 58.8% at 5FU, and 47.8% at 10FU, and the predictive factor for long-term postoperative seizure freedom was the history of preoperative seizures and preoperative full-scale IQ. Significant improvements were found in performance IQ, full-scale IQ, and QOL in patients from the surgery group, particularly those who were seizure free after the operation. Our study showed that epilepsy surgery in TSC with epilepsy rendered improvements in seizure control, full-scale IQ, and QOL. Satisfactory long-term seizure control was often achieved with an early operation and without mental retardation, and improvements in QOL and IQ were frequently observed in postoperative patients who remained seizure free. [ABSTRACT FROM AUTHOR]

The microstructure of 3D five-directional braided composites (5DBCs) comprises the following three constituents: yarn, matrix and interface. The interface is the bridge between yarn and the matrix, and it controls the mechanical properties of composites. In this paper, a meso-scale finite element (FE) model containing an interface is proposed to analyze the off-axial tensile behavior of 5DBCs. Hashin criteria and maximum stress criteria with a gradual degradation scheme are employed to capture the damage evolution behavior of yarn and the matrix; zero-thickness cohesive elements ruled by a bilinear traction–separation constitutive relation are applied to simulate the interface debonding. These constitutive models are coded into a user-defined material subroutine VUMAT and implemented to attain a numerical solution based on ABAQUS/Explicit solver. The meso-scale FE model is verified with available experimental data in the on-axial loading condition and then utilized to predict the mechanical response in diverse off-axial tensile cases. The damage evolution process of a 5DBC specimen under typical off-axial loading is provided, and the corresponding failure mechanism is analyzed in detail. This work provides a transferable approach for numerical study on the interface and off-axis load problems in other textile composites. [ABSTRACT FROM AUTHOR]

Aims: Vagus nerve stimulation (VNS) is a neuromodulation therapy for children with drug‐resistant epilepsy (DRE). The efficacy of VNS is heterogeneous. A prediction model is needed to predict the efficacy before implantation. Methods: We collected data from children with DRE who underwent VNS implantation and received regular programming for at least 1 year. Preoperative clinical information and scalp video electroencephalography (EEG) were available in 88 children. Synchronization features, including phase lag index (PLI), weighted phase lag index (wPLI), and phase‐locking value (PLV), were compared between responders and non‐responders. We further adapted a support vector machine (SVM) classifier selected from 25 clinical and 18 synchronization features to build a prediction model for efficacy in a discovery cohort (n = 70) and was tested in an independent validation cohort (n = 18). Results: In the discovery cohort, the average interictal awake PLI in the high beta band was significantly higher in responders than non‐responders (p < 0.05). The SVM classifier generated from integrating both clinical and synchronization features had the best prediction efficacy, demonstrating an accuracy of 75.7%, precision of 80.8% and area under the receiver operating characteristic (AUC) of 0.766 on 10‐fold cross‐validation. In the validation cohort, the prediction model demonstrated an accuracy of 61.1%. Conclusion: This study established the first prediction model integrating clinical and baseline synchronization features for preoperative VNS responder screening among children with DRE. With further optimization of the model, we hope to provide an effective and convenient method for identifying responders before VNS implantation. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to comprehensively examine the genetic and phenotypic aspects of GABRB3-related epilepsy and to explore the potential prospects of personalized medicine. Methods: Genetic testing was conducted in all epilepsy patients without acquired factors for epilepsy. Through the collaboration of multicenter in China, we analyzed the genotype–phenotype correlation and antiepileptic therapy of 26 patients with GABRB3-related epilepsy. Results: Thirteen GABRB3 variants were novel, and 25 were de novo. The seizure onset age ranged from 1 to 21 months (median age 3.75 months). Seizure types predominated including focal seizures (92.3%), generalized tonic–clonic seizures (23.1%), and epileptic spasms (15.4%). Clinical features included cluster seizures (80.8%), fever sensitivity (53.8%), and developmental delay (96.2%). Neuroimaging was abnormal in 10 patients, including dysplasia of the cerebral cortex, dysplasia of the frontal and temporal cortex, delayed myelination, and corpus callosum dysplasia. Eleven patients were diagnosed with developmental and epileptic encephalopathy (DEE), four with West syndrome, three with epilepsy of infancy with migrating focal seizures (EIMFS), one with epilepsy with myoclonic-atonic seizures (EMAS), one with Dravet syndrome, and one with febrile seizures plus (FS+). Seizures were controlled in 57.7% of patients by valproate, levetiracetam, or perampanel in the majority. Conclusions: The clinical features of GABRB3-related epilepsy included seizure onset in early infancy, cluster seizures and fever sensitivity. Most patients manifest severe epilepsy phenotypes. Valproate, levetiracetam and perampanel seem to have positive effects on seizure control for patients with GABRB3 variants. [ABSTRACT FROM AUTHOR]

AGO1, as one of the rare genes in neurodevelopmental disorders, is involved in the microRNA‐induced silencing complex. Here, we describe the clinical and genetic features of 18 individuals with de novo AGO1 variants: four new and 14 previously reported. Three variants are identified: two in‐frame deletion variants and one missense variant. The spectrum of AGO1‐related disorders included global development delay (GDD), intellectual disability (ID) with or without epilepsy, autism spectrum disorder, hypotonia and dysmorphisms. Focal seizures are the most common type of seizure, occasionally with atypical absence. Mild deafness may be a new phenotype of AGO1‐releated disease. Gly199Ser may be a hot‐spot variant of AGO1 with the same phenotype: GDD/ID, intractable epilepsy, remarkably with Rolandic discharges, and even reaching electrical status epilepticus during sleep. [ABSTRACT FROM AUTHOR]

Aim: To explore the genotypes and phenotypes of CACNA1A variants in children with epilepsy. Method: Eighteen children (six males, 12 females) with CACNA1A variants were identified using next‐generation sequencing. Results: There were 14 missense variants, two nonsense variants, one frameshift variant, and one splice site variant. Sixteen variants were de novo. Age at seizure onset ranged from 1 day to 8 years; median age was 8 months. Multiple seizure types were observed, including focal, generalized tonic–clonic, myoclonic, and absence seizures, as well as epileptic spasms and tonic seizures. Focal motor status epilepticus occurred in 10 individuals and generalized motor status epilepticus occurred in two individuals. All 18 children showed developmental delay. Focal motor status epilepticus resulted in cerebral atrophy in five individuals, mainly on the contralateral side. Interictal electroencephalogram showed focal discharges in 12 individuals, whereas five individuals had generalized discharges. Three individuals were seizure‐free, whereas 15 still had seizures and five had recurrent status epilepticus at last follow‐up. Interpretation: Most children with epilepsy and CACNA1A variants had early seizure onset and developmental delay. Focal seizure was the most common seizure type. Most patients experienced status epilepticus. Unilateral cerebral atrophy could occur after focal motor status epilepticus. Patients with CACNA1A variants located in the transmembrane region may be at high risk of status epilepticus. [ABSTRACT FROM AUTHOR]

Aim: To further identify and broaden the phenotypic characteristics and genotype spectrum of the dehydrodolichol diphosphate synthase (DHDDS) gene. Method: Pathogenic variants of DHDDS were identified by whole‐exome sequencing; clinical data of 10 patients (six males, four females; age range 2–14y; mean age 5y 9mo, SD 3y 3mo) were collected and analysed. Results: All patients had seizures, and myoclonic seizures could be seen in eight patients, with myoclonic status epilepticus in three. The interictal electroencephalogram (EEG) in four patients at seizure onset showed generalized slow waves, slow wave mixed spikes, and spike and waves. Tremor, ataxia, and hypertonia was observed in six, five, and three patients respectively. The results of short‐latency somatosensory evoked potential in two patients were normal, and the symptom of tremor was captured on EEG without time‐locked discharges in one patient, suggesting that the tremor in both patients was a motor impairment rather than myoclonic seizures. Global developmental delay occurred in all patients, among whom nine showed severe intellectual disability and one moderate. Five DHDDS variants were identified, three of which have not been reported previously. Interpretation: Myoclonic seizure is the most common seizure type in heterozygous DHDDS variants, while myoclonic status epilepticus can also occur. The pattern of interictal EEG discharges is characterized by slow waves rather than spike and waves, and generalized discharges was prominent. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To analyze the electroclinical features of children with childhood absence epilepsy (CAE) and discuss the diagnostic criteria for CAE. Methods: The video-electroencephalogram (VEEG) database in our hospital was searched using “absence seizures” and “3-Hz generalized spike and waves (GSW)” as key-words. Other epileptic syndromes with typical absence seizures were carefully excluded. Children meeting the CAE diagnostic criteria of the International League Against Epilepsy (ILAE) in 1989 were further evaluated with the diagnostic criteria proposed by Panayiotopoulos in 2005. Results: Totally 37 children met the 1989 ILAE criteria of CAE. The onset age of absence seizures ranged from 3 to 11years. All patients had frequent absence seizures (5–60 times per day). Two patients (5.4%) had generalized tonic-clonic seizures. Hyperventilation induced absences in all patients. VEEG confirmed that 7 patients (18.9%) had only simple absences, 25 patients (67.6%) had only complex absences, and 5 patients (13.5%) had both simple and complex absences. Ictal EEG showed 3Hz GSW discharges in all patients. The seizure duration ranged from 3 to 40s. Four patients (10.8%) had two spikes per wave in ictal EEG. GSW fragments were found in 29 patients (78.4%) during sleep. Interictal polyspikes and waves were present in 17 patients (45.9%). Focal discharges predominantly in the anterior regions, were found in 22 patients (56.8%). Only 7 patients (18.9%) met the diagnostic criteria proposed by Panayiotopoulos in 2005. Conclusions: Few patients meeting the 1989 ILAE diagnostic criteria for CAE meet the new diagnostic criteria proposed by Panayiotopoulos in 2005. The new criteria for CAE are too strict to appropriately classify some patients. [ABSTRACT FROM AUTHOR]

To analyze the relationship between the characteristics of burst suppression (BS) pattern and different etiologies in epilepsy. Patients with a BS pattern who were younger than 6 months old were screened from our electroencephalogram (EEG) database. The synchronized and symmetric BS patterns under different etiologies in epilepsy were analyzed. A total of 32 patients had a BS pattern on EEG. The etiologies included genetic disorders (37.5%), cortical malformations (28.1%), inborn errors of metabolism (12.5%), and unknown (21.9%). Twenty-five patients were diagnosed with Ohtahara syndrome, one as early myoclonic encephalopathy, and one as epilepsy of infancy with migrating focal seizure. Five cases could not be classified into any epileptic syndrome. Asynchronous BS pattern was identified in 18 cases, of which 13 (72%) patients had genetic and/or metabolic etiologies. Synchronous BS pattern was identified in 14 cases, of which 8 (57%) patients had structural etiologies. Twenty-three patients had symmetric BS patterns, of which 15 (65%) patients had genetic etiologies. Nine patients had asymmetric BS patterns, of which 8 (89%) patients had structural etiologies. Patients with genetic epilepsies tended to have asynchronous and symmetric BS patterns, whereas those with structural epilepsies were more likely to have synchronous and asymmetric BS patterns. [ABSTRACT FROM AUTHOR]

Aim: To characterize the different phenotypes of GABRB2-related epilepsy and to establish a genotype-phenotype correlation.Method: We used next-generation sequencing to identify GABRB2 variants in 15 patients.Results: Eleven GABRB2 variants were novel and 12 were de novo. The age at the onset of seizures ranged from 1 day to 26 months. Nine patients had multiple seizure types, including focal seizures, generalized tonic-clonic seizures, myoclonic seizures, epileptic spasms, and atonic seizures. Seizures were fever-sensitive in 13 out of the 15 patients. Eleven patients displayed developmental delay, while 11 had abnormal video electroencephalography. Abnormalities in the brain images included dysplasia of the frontal and temporal cortex, dysplasia of the corpus callosum, and delayed myelination in four patients. One patient was diagnosed with febrile seizures, three with febrile seizures plus, three with Dravet syndrome, three with West syndrome, one with Ohtahara syndrome, three with developmental delays and epilepsy, and one with non-specific early-onset epileptic encephalopathy.Interpretation: The most common phenotypes of patients with GABRB2 variants include early onset of seizure and fever sensitivity. Febrile seizures and febrile seizures plus are new phenotypes of GABRB2 variants. The phenotypic spectrum of GABRB2 variants ranges from mild febrile seizures to severe epileptic encephalopathy. [ABSTRACT FROM AUTHOR]

The aim of this report was to refine the genotypes and phenotypes of chromodomain helicase DNA‐binding protein 2 (CHD2)‐related epilepsy. Seventeen patients with CHD2 mutations were enrolled. CHD2 mutations were identified by application of next‐generation sequencing of epilepsy or whole exome sequencing. Sixteen mutations were identified, among which 15 have not yet been reported. Thirteen mutations were de novo. Age at seizure onset ranged from 3 months to 10 years 5 months. Seizures observed were generalized tonic–clonic, myoclonic, atonic, atypical absence, focal, and myoclonic–atonic. Epileptic spasms occurred in two patients. Developmental disability was present in 14 patients. Autism features were observed in seven patients. Video electroencephalogram was abnormal in 15 patients. Five patients were diagnosed with non‐specific epileptic encephalopathy, two with epilepsy with myoclonic–atonic seizures, two with Lennox–Gastaut syndrome, two with febrile seizures plus, and one with West syndrome. Seizures were controlled in nine patients. Q1392TfsX17 may be a hot‐spot mutation of CHD2. West syndrome was observed as a new phenotype of CHD2 mutation. The severity of the phenotypes of CHD2 mutations ranged from mild febrile seizures to severe epileptic encephalopathy. What this paper adds: Q1392TfsX17 maybe the hot‐spot mutation of CHD2.West syndrome could be a new phenotype of CHD2 mutation. What this paper adds: Q1392TfsX17 maybe the hot‐spot mutation of CHD2.West syndrome could be a new phenotype of CHD2 mutation. This article's abstract has been translated into Mandarin. Follow the links from the abstract to view the translations. This article is commented on by Symonds on pages 549–550 of this issue. [ABSTRACT FROM AUTHOR]

Objective: To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations.Methods: Collecting clinical information of 17 patients with pathogenic variants in PIGN, PIGA, and PIGT. Genetic studies were performed on all patients.Results: There were 7 patients with 15 PIGN mutations (one patient carrying 3 mutations), 8 patients with 8 PIGA mutations, and 2 patients with 5 PIGT mutations (one patient carrying 3 mutations). All patients had epilepsy and developmental delay, with 71% of them showed hypotonia. And among these patients' various seizure types, the focal seizure was the most common one. Eighty-two percent patients showed a significant relationship between seizures and fever. Serum ALP was elevated in one patient with PIGN mutations and in two patients with PIGA mutations. Brain MRI showed enlarged subarachnoid space in 56% of patients. Some other different characteristics had also been found in our patients: First, atypical absence seizures presented in three patients with PIGN mutations; Second, diffuse slow waves mixed with focal or multifocal discharges of interictal EEG in 88% cases with PIGA-deficient; Third, phenotypes of seven out of eight patients with PIGA mutations were difficult to be classified as severe or less severe group; Last, mild neurological symptoms and developmental status rather than severe conditions occurred in one patient with PIGT mutations.Conclusion: With epilepsy, developmental delay, and/or hypotonia as common features, the knowledge of MCAHS in terms of phenotype and genotype has been expanded. In cases with PIGN-deficient, we expanded the types of atypical absence seizures, and described one patient with elevated serum ALP. Focal seizures with diffuse slow waves mixed with focal or multifocal discharges on EEG rather than infantile spasms with hypsarrhythmia, which as previously reported were often seen in our patients with PIGA mutations. The classifications of phenotypes caused by PIGA mutations should be more continuous than discrete. The mild phenotype of one patient with PIGT mutations expanded the clinical presentation of MCAHS3. [ABSTRACT FROM AUTHOR]

Aim: To characterize the clinical and genetic characteristics of a large cohort of patients with pyridoxine-dependent epilepsy (PDE).Method: We retrospectively collected clinical and genetic information of 33 (15 males, 18 females; mean [SD] age 4y 11mo [2y 5mo]; 1y 3mo-10y 4mo) patients with PDE from 31 unrelated families at a single centre.Results: There were many types of seizures, with focal seizures in 32 cases. Dravet syndrome was suspected clinically in two patients. Electroencephalogram (EEG) was normal in seven patients at the initial stage and then in 17 patients during pyridoxine maintenance therapy. Genetic studies revealed 26 kinds of variants in ALDH7A1 and four in PLPBP with 18 variants unreported previously, and 48 ALDH7A1 variants were located in exon 11, 12, 14, and 17 or intron 9 and 11. In addition, three patients carried different exons deletion. Among these, seizures could be controlled for several years in one patient by levetiracetam monotherapy. Another patient remained seizure free for up to 7 months without therapy. All patients received oral pyridoxine treatment, with only one case (with exon 8-13 deletion) showing poor control.Interpretation: This study illustrates the range of clinical presentations and genetic causes in PDE, as well as responsiveness to antiepileptic drugs. A relationship between EEG and pyridoxine therapy could be seen in many cases. Seizure control was seen in all with pyridoxine monotherapy except for one patient.What This Paper Adds: There is a parallel relationship between electroencephalogram and pyridoxine therapy in many patients. Patients with pyridoxine-dependent epilepsy may respond well to low-dose pyridoxine. [ABSTRACT FROM AUTHOR]

Aims: The causal agent of Fusarium wilt in faba bean is Fusarium oxysporum f. sp. fabae (FOF), which significantly reduces the yield in continuous cropping systems. We aimed to evaluate the role of wheat in alleviating Fusarium wilt in faba bean. Methods: We assessed the effect of wheat on the occurrence of Fusarium wilt in faba bean and analyzed the differences in the root exudates produced by faba bean in monocropping and intercropping systems before and after infection by FOF. Results: Treatment with FOF increased the incidence and disease index of Fusarium wilt and significantly increased the number of rhizosphere pathogens. Phenolic acids, organic acids, amino acids and sugars exuded from the roots of faba bean increased by 39.1%, 329.0%, 921.7% and 1195.7%, respectively, while intercropping reduced them by 28.04%, 55.69%, 79.10% and 78.75%, respectively. The rhizosphere pathogens of faba bean decreased significantly following intercropping, and the incidence of Fusarium wilt dropped to tolerable levels. Conclusions: This study suggests that the inoculation with FOF stimulated the exudation of phenolic acids, organic acids, amino acids and sugars from faba bean roots. These compounds were closely related to the changes in the disease resistance of faba bean and could also be used as nutrients to promote pathogen proliferation. After intercropping with wheat, the exudates of faba bean decreased significantly, which may imply that the faba bean recovered from stress, reduced the amount of nutrients needed for pathogen growth, limited the proliferation of pathogens and contributed to the alleviation of Fusarium wilt. [ABSTRACT FROM AUTHOR]

To improve the low acceptance ratio and revenue to cost ratio caused by the poor match between the virtual nodes and the physical nodes in the existing virtual network embedding (VNE) algorithms, we established a multi-objective optimization integer linear programming model for the VNE problem, and proposed a novel two-stage virtual network embedding algorithm based on topology potential (VNE-TP). In the node embedding stage, the field theory once used for data clustering was introduced and a node embedding function designed to find the optimal physical node. In the link embedding stage, both the available bandwidth and hops of the candidate paths were considered, and a path embedding function designed to find the optimal path. Extensive simulation results show that the proposed algorithm outperforms other existing algorithms in terms of acceptance ratio and revenue to cost ratio. [ABSTRACT FROM AUTHOR]

Objective. Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA) that leads to severe physiologic and developmental problems. Our study is aimed at elucidating the clinical and genetic characteristics of Chinese MLD patients. Methods. Clinical data of 21 MLD patients was collected. All coding exons of ARSA and their flanking intronic sequences were amplified by polymerase chain reaction and subjected to direct sequencing. Results. All 21 patients were diagnosed with MLD clinically and genetically, out of which 17 patients were late infantile and 4 were juvenile types. A total of 34 ARSA mutations, including 28 novel mutations (22 missense, 1 splicing, 1 nonsense, 3 small insertions, and 1 small deletion mutation) and 6 known mutations (5 missense and 1 small insertion mutation), were identified. Prenatal diagnosis was performed for four pedigrees. One fetus was a patient, two fetuses were carriers, and two were wild type. Conclusions. The present study discovered 28 novel ARSA mutations and widely expanded the mutation spectrum of ARSA. Four successful prenatal diagnoses provided critical information for MLD families. [ABSTRACT FROM AUTHOR]

Aim: To analyze the clinical outcome and neuroimaging over a long duration follow-up in the currently largest series of acute encephalopathy after status epilepticus in patients with Dravet syndrome.Method: Clinical and neuroimaging data of patients with Dravet syndrome with a history of acute encephalopathy (coma >24h) after status epilepticus from February 2005 to December 2016 at Peking University First Hospital were reviewed retrospectively.Results: Thirty-five patients (15 males, 20 females) with a history of acute encephalopathy were enrolled from a total of 624 patients with Dravet syndrome (5.6%). The median onset age of acute encephalopathy was 3 years 1 month. The duration of status epilepticus varied between 40 minutes to 12 hours. Thirty-four patients had a high fever when status epilepticus occurred, and only one had a normal temperature. Coma lasted from 2 to 20 days. Twelve patients died and 23 survived with massive neurological regression. The median follow-up time was 2 years 1 month. Neuroimaging of 20 out of 23 survivors during the recovery phase showed diverse degrees of cortical atrophy with or without subcortical lesions.Interpretation: Acute encephalopathy after status epilepticus is more prone to occur in patients with Dravet syndrome who had a high fever. The mortality rate is high in severe cases. Survivors are left with severe neurological sequelae but often with either no seizure or low seizure frequency.What This Paper Adds: Acute encephalopathy is more prone to occur in patients with Dravet syndrome with a high fever. The mortality rate is high for acute encephalopathy after status epilepticus in patients with Dravet syndrome. Survivors have neurological sequelae. [ABSTRACT FROM AUTHOR]

Objective To investigate high-frequency oscillations (HFOs) in epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) with different etiologies. Methods Twenty-one CSWS patients treated with methylprednisolone were divided into structural group and genetic/unknown group. Comparisons were made between the two etiological groups: selected clinical variables including gender, age parameters, seizure frequencies and antiepileptic drugs; distribution of HFOs in pre-methylprednisolone electroencephalography (EEG) and percentage changes of HFOs and spikes after methylprednisolone treatment. Results There were 7 patients (33%) in structural group and 14 patients (68%) in genetic/unknown group. No significant difference was found between the two groups regarding selected clinical variables. HFOs were found in 12 patients in pre-methylprednisolone EEG. The distribution of HFOs was focal and accordant with lesions in 5 of structural group, and it was also focal but in different brain regions in 7 of genetic/unknown group. The percentage reduction of total HFOs and spikes was 81% (158/195) and 19% (1956/10,037) in structural group, while 98% (315/323) and 55% (6658/12,258) in genetic/unknown group after methylprednisolone treatment. Conclusion The etiologies had no distinct correlation with some clinical characteristics in CSWS. HFOs recorded on scalp EEG might not only be used as makers of seizure-onset zone (SOZ), but also have association with functional disruption of brain networks. Both HFOs and spikes reduced more in genetic/unknown patients than that in structural patients after methylprednisolone treatment and HFOs were more sensitive to treatment than spikes. [ABSTRACT FROM AUTHOR]

Objective Epilepsy-aphasia spectrum (EAS) are a group of epilepsy syndromes denoting an association between epilepsy, speech disorders and the EEG signature of centrotemporal spikes. Mutations in the GRIN2A gene, encoding the NMDA glutamate receptor α2 subunit were reported in focal epilepsy with speech disorder. We aimed to explore the role of GRIN2A mutations in patients with centrotemporal spikes related epileptic syndromes in a Chinese cohort. Methods Patients with Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS), atypical benign partial epilepsy (ABPE), and benign epilepsy with centrotemporal spikes (BECTS) were recruited. GRIN2A mutation screening was performed using PCR and Sanger sequencing. Results 122 patients, including 9 LKS, 26 ECSWS, 42 ABPE and 45 BECTS were enrolled. The mean age of seizure or aphasia onset was 5 years, ranging from 10 months to 11 years. Heterozygous GRIN2A mutations were detected in four patients (G760S, D1385Y, C455Y and C231R) GRIN2A mutation was found in 11.1% (1 out of 9 cases) of LKS, and in 7.1% (3 out of 42 cases) of ABPE, but in none with ECSWS and BECTS. No GRIN2A mutation was found in patients with a family history of febrile seizures or epilepsy. Conclusion GRIN2A mutation is a genetic cause in less than 11% patients with LKS or ABPE. GRIN2A gene is a rare causative gene in Chinese patients with EAS, suggesting the possibility of other gene involved in the pathogenesis. [ABSTRACT FROM AUTHOR]

Objective: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population. Methods: 119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated based on their history, clinical manifestation, laboratory examinations, series of brain MRI with follow-up, genetic etiological tests including chromosomal analysis, multiplex ligation probe amplification, Sanger sequencing, targeted enrichment-based next-generation sequencing and whole exome sequencing. Results: Clinical and genetic features of hypomyelinating disorders were revealed. Nine different hypomyelinating disorders were identified in 119 patients: Pelizaeus-Merzbacher disease (94, 79%), Pelizaeus-Merzbacher-like disease (10, 8%), hypomyelination with atrophy of the basal ganglia and cerebellum (3, 3%), GM1 gangliosidosis (5, 4%), GM2 gangliosidosis (3, 3%), trichothiodystrophy (1, 1%), Pol III-related leukodystrophy (1, 1%), hypomyelinating leukodystrophy type 9 (1, 1%), and chromosome 18q deletion syndrome (1, 1%). Of the sample, 94% (112/119) of the patients were genetically diagnosed, including 111 with mutations distributing across 9 genes including PLP1, GJC2, TUBB4A, GLB1, HEXA, HEXB, ERCC2, POLR3A, and RARS and 1 with mosaic chromosomal change of 46, XX,del(18)(q21.3)/46,XX,r(18)(p11.32q21.3)/45,XX,-18. Eighteen novel mutations were discovered. Mutations in POLR3A and RARS were first identified in Chinese patients with Pol III-related leukodystrophy and hypomyelinating leukodystrophy, respectively. Significance: This is the first report on clinical and genetic features of hypomyelinating disorders with a large sample of patients in Chinese population, identifying 18 novel mutations especially mutations in POLR3A and RARS in Chinese patients, expanding clinical and genetic spectrums of hypomyelinating disorders. [ABSTRACT FROM AUTHOR]

Menkes disease (MD) is a fatal X-linked multisystem disease caused by mutations in ATP7A. In this study, clinical and genetic analysis was performed in 24 male MD patients. Development delay, seizures, kinky coarse hair, and dystonia were found in 24, 22, 24, and 24 patients, respectively. Serum ceruloplasmin/copper tested in 19 patients was low. Abnormal classic features of MD presented in the MRI/MRA of 19 patients. Seventeen mutations of ATP7A were identified in 22 patients. Twelve were novel mutations including three small deletion/insertion, one missense mutation, two nonsense mutations, three splicing-site mutations, and three gross deletions. Twenty-two patients were genetically diagnosed; neither point mutation nor deletion/duplication was found in two of them. c.2179G > A found in five patients might be a hot-spot mutation. Prenatal molecular diagnosis was performed for five unrelated fetuses (1 female and 4 male), which found four fetuses to be wild type and one male carried the same mutation as the proband. This study of the largest sample of Chinese MD patients examined to date discovered the unique phenotype and genotype spectrum in Chinese patients with 12 novel mutations of ATP7A, and that c.2179G > A might be a hot-spot mutation in MD patients. Five successful prenatal diagnosis contributed important information for MD families. [ABSTRACT FROM AUTHOR]

To analyze the clinical and genetic characteristics of Chinese patients with pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency. The clinical presentations and the responses to treatments were analyzed in 4 patients. Blood and urinary metabolic screenings, electroencephalogram (EEG), brain magnetic resonance imaging (MRI) and epilepsy-related genes detection were performed in all patients. Patient 1 and 2 were identical twin brothers, who were born at 35 w gestation with a sign of encephalopathy. Their seizures started within the first day and could not be controlled by pyridoxine or pyridoxal-5′-phosphate (PLP) completely. Patient 3 presented seizures at 5 months, responding well to pyridoxine. Seizures in patient 4 began at 40 days after birth and were controlled by valproic acid and topiramate. EEG showed atypical hypsarrhythmia or multifocal epileptiform discharges in 3 patients, and showed normality in patient 4. MRI showed nonspecific abnormality or normality. Blood metabolic screening showed multiple amino acids level abnormalities in all cases. Urinary metabolic screening showed vanillactic acid prominently elevated in 3 patients. Genetic analysis revealed 5 mutations of PNPO, three of which were novel. The mutation c.445_448del was carried by the twins and patient 3. Assessment of psychomotor development indicated severe delay in 3 patients and borderline to mild delay in patient 3. This is the first time to report patients with PNPO deficiency diagnosed by gene analysis in China. The novel clinical characteristics and novel mutations found here expanded the phenotypes and genotypes of this disease. Further, the frameshift mutation c.445_448del might be high prevalence in PNPO deficiency in Chinese patients. [ABSTRACT FROM AUTHOR]

With the increased continuous cropping of faba bean (Vicia faba L.), the incidence rate of Fusarium wilt in faba bean is increasing. The application of nitrogen fertilizer and intercropping of faba bean and wheat can affect the occurrence of the disease. In the field experiment, the effect of nitrogen fertilizer and faba bean - wheat intercropping on the occurrence of Fusarium wilt in faba bean was explored and the contents of 12 amino acids in the root exudate of faba bean were determined in a hydroponic experiment. Exudation amounts of seven amino acids were affected significantly. These were selected for an indoor culture experiment, and the effects of various concentrations of amino acids on the growth, reproduction, and pathogenicity of F. oxysporum f. sp. fabae (FOF) was studied. At 90 kg N ha−1, wheat-faba bean intercropping increased the content of in the root exudate of faba bean Ser, Glu, Tyr, and Lys which also inhibited the growth and reproduction of FOF while the content of Asp, Val, and Pro was reduced. The latter promoted the growth and reproduction of FOF. These results suggest, that changes in exudation patterns contribute to the observed reduction in the occurrence of Fusarium wilt in faba bean through intercropping and reduction of nitrogen input in the field. Optimum reduced N-applications combined with species mixtures should be identified and included in agricultural management. • In this paper, we explore the role of specific amino acids in the root exudate of faba bean in controlling Fusarium wilt in faba bean in faba bean–wheat intercropping system and appropriate nitrogen supply. • At present, the studies on the intercropping of faba bean and wheat mainly focus on the impact of intercropping on the occurrence of diseases and yield of wheat and those on the occurrence of diseases in faba bean are less. • Moreover, the relationship between the application of nitrogen fertilizer in intercropping system and the occurrence of soil-borne diseases in faba bean is rarely reported. [ABSTRACT FROM AUTHOR]

Objective Epilepsia partialis continua (EPC) was one type of focal status epilepticus. The aim of this study was to analyze the clinical and electroencephalography (EEG) characteristics, and outcome of 57 child-onset patients with EPC according to different etiologies, and further explore the electro-clinical-etiological associations. Methods We retrospectively reviewed 57 children diagnosed with EPC in our department over last ten years. Etiology, clinical and EEG data, and outcome were categorized and analyzed. Results For the 57 child-onset patients, EPC was caused by different etiologies, including immune-related disease (43.9%), focal lesions (17.5%), inborn errors of metabolism (24.6%), and unknown (14.0%). EEG background abnormalities showed generalized slowing in 45 patients (78.9%) and focal slowing in two patients (3.5%). Nineteen patients (33.3%) presented clear correlation of ictal EEG/EMG and the remaining 38 patients (66.7%) showed no clear correlation of ictal EEG/EMG. Both EEG background activity and ictal EEG/EMG correspondence among different etiologies had statistical significance ( P < 0.05). The ictal patterns without clear EEG/EMG correspondence in immune-related disease and the ictal patterns with clear EEG/EMG correspondence in focal lesions were more prominent ( P < 0.05). Conclusion This is the first study of child-onset EPC with a large series in a pediatric epilepsy center in China. The most common cause for EPC was immune-related disease. The EEG background activity and the EEG/EMG correspondence might be influenced by the etiologies of EPC to some degree. These findings might guide the direction of EPC diagnosis in conjunction with other examinations. [ABSTRACT FROM AUTHOR]

Objective To study the atonic elements combined or uncombined with epileptic spasms in infantile spasms. Methods The demographic data, clinical characteristics, electroencephalogram (EEG), and polyelectromyography (PEMG) features were analyzed in 12 infantile spasm patients with atonic elements. Results A total of 29 EEGs were recorded. Hypsarrhythmia or hypsarrhythmia variants were identified during interictal EEG. Insular or clustered epileptic spasms occurred in all. Three subtypes of atonic elements combined or uncombined with epileptic spasms (spasm-atonic, pure atonic, and atonic-spasm seizures) were observed electroclinically, which could present insularly or in cluster or altered with epileptic spasms in the same cluster. The ictal EEG showed generalized high-amplitude slow waves presenting alone or combined with other patterns. The corresponding PEMG showed an obvious electrical silence alone or preceding or following a crescendo-decrescendo pattern generated from myoelectric burst. Conclusions Atonic elements combined or uncombined with epileptic spasms was a newly noticed phenomenon in infantile spasms, which was artificially divided into three subtypes here. It might be a variant of epileptic spasms or a unique seizure type. Significance Atonic elements combined or uncombined with epileptic spasms was a previously ignored phenomenon in infantile spasms, which should be seriously considered in clinical practice. [ABSTRACT FROM AUTHOR]

Hierarchical TiO 2 /SnO 2 photocatalysts were successfully synthesized through inducing of Galla Chinensis pollen. Hierarchical morphologies (nanoparticles, nanosheets and nanobelts) were obtained by adjusting NaOH aqueous concentrations. The hierarchical TiO 2 /SnO 2 photocatalysts were characterized by X-ray diffraction, field emission scanning electron microscopy and nitrogen adsorption-desorption isotherms. The results indicate that hierarchical TiO 2 /SnO 2 nanobelts exhibit high photo-catalytic properties for reduction of Cr(VI). It is anticipated that our work could provide an efficient synthetic approach to design a large variety of hierarchical photocatalysts for diverse photocatalytic applications. [ABSTRACT FROM AUTHOR]

Objective Hyperphosphatasia mental retardation syndrome (Mabry syndrome) is an autosomal recessive disorder. We aim to analyze two Chinese patients diagnosed as Mabry syndrome. Methods The clinical manifestations, diagnosis and treatment were observed in two patients. Genetic analysis including PIGV and PIGO was examined. Results Two patients were diagnosed as Mabry syndrome clinically and genetically. Developmental delay, hyperphosphatasia and seizures were presented in both of them. Typical facial dysmorphism and hypoplastic terminal phalanges were only found in one. Some novel presentations including congenital laryngeal cartilage softening, inguinal hernia, broken palmprint, optic atrophy and skeleton dysplasia such as carpal age delay and metaphysis anomalies were observed in two patients. Molecular genetic analysis revealed compound heterozygous mutations of PIGV or PIGO in our patients, including c.615C > G (p.Asn205Lys) and c.854A > G (p.Tyr285Cys) of PIGV in patient 1, and c.458T > C (p.Phe153Ser) and c.1355_1356del (p.Ala452Glyfs*52) of PIGO in patient 2. Additionally, a heterozygous c.2926G > A (Asp976Asn) of PCDH19 was identified in patient with PIGV mutations, the causative gene of Epilepsy and mental retardation limited to females (EFMR). Conclusion To our best knowledge, this is the first time to report Chinese patients diagnosed as Mabry syndrome. For the PCDH19 mutation in our patient carrying PIGV mutations, due to lacking characteristics of EFMR and the ambiguity results in pathogenicity analysis, we were not sure how much pathogenic role PCDH19 mutation shared with PIGV mutations in this disease. The novel mutations of PIGV and PIGO, and novel clinical manifestations reported here might expand the genotype and phenotype spectrum of Mabry syndrome. [ABSTRACT FROM AUTHOR]

Objective To investigate how high-frequency oscillations (HFOs) were affected by methylprednisolone treatment and the clinical significance of HFOs in patients with atypical benign partial epilepsy (ABPE). Methods In 14 ABPE patients with methylprednisolone treatment, we measured interictal HFOs and spikes during sleep in pre- and post-methylprednisolone scalp electroencephalography (EEG). Patients with benign childhood epilepsy with centrotemporal spikes (BECTS) were taken as control. Results Before methylprednisolone treatment, 10/14 ABPE patients had HFOs, with a mean value of 85.79 per 60 s per patient, while 2/14 BECTS patients had HFOs with a mean value of 1.86 per 60 s per patient ( p = 0.006). The 10 ABPE patients with HFOs tended to have more frequent epileptic negative myoclonus/atypical absences than the other 4 ABPE patients without HFOs. Rates reduced by methylprednisolone treatment were statistically significant for both spikes ( p = 0.027) and HFOs ( p = 0.005). The percentage of reduction was 41.8% (4653/11,133) and 95% (1141/1202) for spikes and HFOs, respectively. Conclusion Proportion and rates of HFOs in ABPE were more prevalent than in BECTS. HFO rates reduced by methylprednisolone treatment might be more significant than spike rates. Significance Prevalence of HFOs reflected at least some aspect of epileptic severity of ABPE. HFOs were more sensitive to methylprednisolone treatment than spikes. [ABSTRACT FROM AUTHOR]

Purpose Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by mutations of the ALDH7A1 gene. We aimed to analyze the relations between the clinical diagnosis and treatment of PDE and ALDH7A1 gene mutations in Chinese PDE patients. Methods The clinical manifestations, diagnosis and treatment were observed in a cohort of PDE patients with early onset of seizure. Video-electroencephalogram (VEEG) and magnetic resonance imaging (MRI) were performed. The mutation of ALDH7A1 gene was analyzed. Results Of eight patients, six were males and two were females. Age of seizure onset ranged from 1 to 100 days and 75% patients presented with seizures in the neonatal period. All patients showed different degrees of developmental delay. EEGs showed focal or multifocal discharges, or were normal. Molecular analysis revealed 10 ALDH7A1 mutations, including 2 splice site mutations. Five patients had mutation at IVS11+1G>A site, six patients had missense mutations, one with nonsense mutation and another patient had 9-bp genomic deletion mutation. Among them, two mutations were first time reported. Conclusions Seizure onset was in neonatal or early infantile period in our PDE patients. Early recognition and diagnosis of the disease is necessary for early intervention and improve cognitive development in the later life. In this study, on the molecular level, we also identified the splice site mutation IVS11+1G>A as a high prevalence mutation site with a frequency of 31.25% (5 of 16 alleles) in Chinese PDE patients. [ABSTRACT FROM AUTHOR]

Sodium/iodide symporter (NIS) acts as a vital role in regulation of iodide uptake in thyroid cancer. However, the efficient approach to increase NIS expression and the mechanism of NIS-mediated iodide uptake in thyroid cancer remain unclear. Small activating RNA (saRNA) was used to promote NIS expression. And the cell viability, apoptosis, and autophagy were detected using Cell count-kit 8 (CCK-8), Annexin V-FITC/PI double staining, and GFP-LC3 immunofluorescence assays, respectively. The protein levels of caspase 3, Bax, Bcl-2, ATG5, ATG12, LC3B Ⅱ to LC3B Ⅰ, Beclin 1, P62, AMPK, mTOR, P70S6K, actin, and phosphorylation of AMPK, mTOR, P70S6K were determined by western blotting. Moreover, a nude murine node with transplanted NC-dsRNA or NIS-482-transfected SW579 cells was used to examine the effect of NIS-mediated autophagy in vivo. And the levels of caspase 3 and ki67 were examined by immunohistochemical staining assay. saRNA mediated NIS mRNA and protein upregulated in SW579 cells. saRNA-mediated NIS expression inhibited cell proliferation, induced apoptosis and autophagy, and promoted iodide uptake in SW579 cells. Moreover, the effects of NIS on cells were enhanced by autophagy activator Rapamycin whereas reversed by autophagy inhibitor 3-Methyladenine (3-MA). For mechanism analysis, we found that NIS upregulation exerted the effects on cell proliferation, apoptosis, autophagy, and iodide uptake via regulating AMPK/mTOR pathway. We also demonstrated that saRNA-mediated NIS expression promoted iodide uptake in vivo. saRNA-mediated NIS expression acted as a critical role in increasing iodide uptake via AMPK/mTOR pathway in thyroid cancer. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To summarize the electroclinical features and prognosis of epilepsy in children with methylmalonic acidemia (MMA). Methods: The medical records of hospitalized MMA patients associated with epilepsy were retrospectively reviewed. The clinical manifestations, laboratory examination results, and treatment modalities were analyzed. Results: From 63 pediatric inpatients diagnosed as MMA in Peking University First Hospital from June 1996 to December 2009, 27 children (42.9%) associated with epilepsy were enrolled in this study. These 27 patients were also accompanied with other neurological manifestations including mental retardation or regression (n =22), lethargy (n =10), increased muscle tone (n =8), muscle hypotonia (n =8), recurrent vomiting (n =4), tremor (n =2), ataxia (n =2), and abnormal posture (n =1).The onset age of seizure ranged from 8days to 11years. The seizure types included partial seizure (n =21), generalized tonic-clonic seizure (n =5), tonic seizure (n =3), myoclonic seizure (n =3), and epileptic spasms (n =2). Five patients had two or three seizure types. Nine patients (33.3%) had a history of status epilepticus. EEG showed slow background activity in 17 patients, focal or multifocal paroxysmal discharges in 16 patients, generalized paroxysmal discharges in four patients, hypsarrythmia in two patients, and suppression-burst pattern in one patient. Cranial MRI scans showed bilateral cerebral atrophy (n =14), increased T2 signal intensities in white matter (n =12), agenesis of corpus callosum (n =2), bilateral increased T2 signal intensities or necrosis in basal ganglia (n =2), and cerebellar atrophy (n =1). Twenty one patients were MMA combined with homocysteinemia. Seventeen patients were confirmed with cobalamin C disease and one with partial mutase deficiency (mut−). Vitamin B12-responsive patients had a better outcome compared with vitamin B12-unresponsive patients. Conclusions: Epilepsy is a common manifestation of patients with MMA. Partial seizure is more common than other seizure types. Urine organic acid analysis should be performed for children with unknown cause of epilepsy combined with other neurological manifestations, so as to promptly identify the etiology and improve the prognosis. [Copyright &y& Elsevier]

Abstract: Nitric oxide (NO), as a neurotransmitter, exerts various physiological and pathological effects on the brain. Excess NO is toxic to neurons and may cause neuronal apoptosis. However, the cascade of NO-mediated apoptosis is not fully understood. We utilized a recurrent febrile seizures (FS) rat model and found that plasma NO was increased, neuronal apoptosis was evident, the expression of glucose-regulated protein78 (GRP78, a well-established marker of ER stress) was elevated, and caspase-12 (an ER stress-specific proapoptosis molecule) was activated in the hippocampus in a time-dependent manner after recurrent FS. Administration of sodium nitroprusside (SNP, an NO donor) enhanced neuronal apoptosis, down-regulated the expression of GRP78, and increased that of caspase-12 in FS+SNP groups compared with FS groups. In contrast, treatment with NG-nitrol-l-arginine methyl ester (l-NAME, a competitive NO synthase inhibitor) inhibited neuronal apoptosis, up-regulated the expression of GRP78, and decreased that of caspase-12 in FS+ l-NAME groups compared with FS groups. These results suggest that NO mediates neuronal apoptosis caused by recurrent FS, and that the ER stress pathway is involved in NO-mediated neuronal apoptosis. [Copyright &y& Elsevier]

Abstract: Hydrogen sulfide (H2S) is recognized as a new neuromodulator in regulating various brain functions. Some of our recent studies showed that H2S alleviates the hippocampal damage induced by recurrent febrile seizures (FS). In the present study, we used a rat model of recurrent FS and found that sodium sulfhydrate (NaHS, a donor of H2S) down-regulated the expression of c-fos and increased the expression of gamma-aminobutyric acid B receptor subunits 1 (GABABR1) and 2 (GABABR2). Hydroxylamine (an inhibitor of cystathionine b-synthase) up-regulated the expression of c-fos and down-regulated the expression of GABABR2, but did not change the expression of GABABR1. These results suggest that H2S plays a regulatory role through modulating GABABR function in the pathogenesis of recurrent FS. [Copyright &y& Elsevier]

Abstract: The aim of the present study was to investigate the possible role of hydrogen sulfide (H2S) in the pathogenesis of recurrent febrile seizures (FS) in rats. On a rat model of recurrent FS, the ultrastructure of hippocampal neurons, the plasma level of H2S, the expressions of cystathionine b-synthase (CBS) and c-fos, and the development of mossy fiber sprouting (MFS) in hippocampus were examined after treatment with NaHS, a donor of H2S, or hydroxylamine (HA), an inhibitor of CBS. We found that the plasma level of H2S increased significantly, the expressions of CBS and c-fos increased markedly, and MFS was evident in hippocampus in FS group. NaHS alleviated the neuronal damage of recurrent FS rats, decreased the expression of c-fos, and inhibited MFS obviously. HA aggravated the neuronal damage of recurrent FS rats, further increased the expression of c-fos, and enhanced the mossy fiber outgrowth. The results showed that endogenous H2S system was involved in the development of FS. Exogenous H2S may exert beneficial effect on the pathogenesis of FS-related brain damage. [Copyright &y& Elsevier]

CSNK2B, which encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Variants in CSNK2B associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported in five cases only. Among the 816 probands suspected hereditary epilepsy whose initial report of trio-based whole exome sequencing (WES) were negative, 10 de novo pathogenic or likely pathogenic variants of CSNK2B in nine probands were identified after reanalysis of their raw Trio-WES data. Six of the nine epileptic patients had ID/DD. The age of seizure onset of these nine patients with CSNK2B variants ranged from 2–12 months. Eight patients had age of seizure onset of less than 6 months. The epilepsy of most probands (8/9) was generalized tonic-clonic seizure and clustered (6/9). Most patients had normal electroencephalogram (5/9) and brain magnetic resonance image (7/9) results. Most patients (7/9) had easy-to-control seizures. Levetiracetam was the most commonly used drug in seizure-free patients (5/7). The variants detected in five patients (5/9, 55.6%) were located in the zinc-binding domain. In summary, our research provided evidence that variants in CSNK2B are associated with epilepsy with or without ID/DD. CSNK2B-related epilepsy is relatively easy to be controlled. The zinc-binding domain appears to be the hotspot region for mutation. [ABSTRACT FROM AUTHOR]

The aim of this report was to refine the genotypes and phenotypes of chromodomain helicase DNA-binding protein 2 (CHD2)-related epilepsy. Seventeen patients with CHD2 mutations were enrolled. CHD2 mutations were identified by application of next-generation sequencing of epilepsy or whole exome sequencing. Sixteen mutations were identified, among which 15 have not yet been reported. Thirteen mutations were de novo. Age at seizure onset ranged from 3 months to 10 years 5 months. Seizures observed were generalized tonic-clonic, myoclonic, atonic, atypical absence, focal, and myoclonic-atonic. Epileptic spasms occurred in two patients. Developmental disability was present in 14 patients. Autism features were observed in seven patients. Video electroencephalogram was abnormal in 15 patients. Five patients were diagnosed with non-specific epileptic encephalopathy, two with epilepsy with myoclonic-atonic seizures, two with Lennox-Gastaut syndrome, two with febrile seizures plus, and one with West syndrome. Seizures were controlled in nine patients. Q1392TfsX17 may be a hot-spot mutation of CHD2. West syndrome was observed as a new phenotype of CHD2 mutation. The severity of the phenotypes of CHD2 mutations ranged from mild febrile seizures to severe epileptic encephalopathy. WHAT THIS PAPER ADDS: Q1392TfsX17 maybe the hot-spot mutation of CHD2. West syndrome could be a new phenotype of CHD2 mutation. [ABSTRACT FROM AUTHOR]