Analysis of the optimal target node to reduce seizure-like discharge in networks

Network approaches have been widely accepted to guide surgical strategy and predict outcome for epilepsy treatment.This study starts with a single oscillator to explore brain activity,using a phenomenological model capable of describing healthy and epileptic states.The ictal number of seizures decreases or remains unchanged with increasing the speed of oscillator excitability and in each seizure,there is an increasing tendency for ictal duration with respect to the speed.The underlying reason is that the strong excitability speed is conducive to reduce transition behaviors between two attractor basins.Moreover,the selection of the optimal removal node is estimated by an indicator proposed in this study.Results show that when the indicator is less than the threshold,removing the driving node is more possible to reduce seizures significantly,while the indicator exceeds the threshold,the epileptic node could be the removal one.Furthermore,the driving node is such a potential target that stimulating it is obviously effective in suppressing seizure-like activity compared to other nodes,and the propensity of seizures can be reduced 60%with the increased stimulus strength.Our results could provide new therapeutic ideas for epilepsy surgery and neuromodulation.

Mental retardation,seizures and language delay caused by new SETD1B mutations:Three case reports

BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1B gene.Three individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were analyzed.This article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment approach.Among the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had epilepsy.Antiepileptic treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat delayed.Whole exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(p.Arg1825trp),c.4120C>T(p.Gln1374*,593),c.14_15insC(p.His5Hisfs*33).CONCLUSION Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language delay.Although the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of life.Furthermore,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development.

Clinical efficacy of Baijin pills in the treatment of generalized tonicclonic seizure epilepsy with cognitive impairment

BACKGROUND The generalized tonic-clonic seizure(GTCS)is the most usual variety of epileptic seizure.It is mainly characterized by strong body muscle rigidity,loss of consciousness,a disorder of plant neurofunction,and significant damage to cognitive function.The effect of antiepileptic drugs on cognition should also be considered.At present,there is no effective treatment for patients with epilepsy,but traditional Chinese medicine has shown a significant effect on chronic disease with fewer harmful side effects and should,therefore,be considered for the therapy means of epilepsy with cognitive dysfunction.AIM To investigate the clinical efficacy of Baijin pills for treating GTCS patients with cognitive impairment.METHODS This prospective study enrolled patients diagnosed with GTCS between January 2020 and December 2023 and separate them into two groups(experimental and control)using random number table method.The control group was treated with sodium valproate,and the experimental group was Baijin pills and sodium valproate for three months.The frequency and duration of each seizure,the Montreal Cognitive Assessment Scale(MoCA),and the Quality of Life Rating Scale(QOLIE-31)were recorded before and after treatment.RESULTS There were 85 patients included(42 in the control group and 43 in the experimental group).After treatment,the seizure frequency in the experimental group was significantly reduced(P<0.05),and seizure duration was shortened(P<0.01).The total MoCA score in the experimental group significantly increased compared to before treatment(P<0.01),and the sub-item scores,except naming and abstract generalization ability,significantly increased(P<0.05),whereas the total MoCA score in the control group significantly decreased after treatment(P<0.05).The QOLIE-31 score of the experimental group increased significantly after treatment compared to before treatment(P<0.01).CONCLUSION Baijin pills have a good clinical effect on epilepsy with cognitive dysfunction.

Neuroimaging features in a patient with non-ketotic hyperglycaemic seizures: A case report

BACKGROUND Non-ketotic hyperglycaemic(NKH)seizures are a rare neurological complication of diabetes caused by hyperglycaemia in non-ketotic and non-hyperosmotic states.The clinical characteristics of NKH seizures are atypical and lack unified diagnostic criteria,leading to potential misdiagnoses in the early stages of the disease.CASE SUMMARY This report presents a rare case of NKH seizures in a 52-year-old male patient with a history of type 2 diabetes mellitus.We performed comprehensive magnetic resonance imaging(MRI)studies at admission,12 d post-admission,and 20 d post-discharge.The imaging techniques included contrast-enhanced head MRI,T2-weighted imaging(T2WI),fluid-attenuated inversion recovery(FLAIR),diffusion-weighted imaging,susceptibility-weighted imaging,magnetic reso-nance spectroscopy(MRS),and magnetic resonance venography.At the time of admission,T2WI and FLAIR of the cranial MRI showed that the left parieto-occipital cortex had gyrus-like swelling and high signal,and subcortical stripes had low signal.MRS showed a reduced N-acetylaspartate peak and increased creatine and choline peaks in the affected areas.A follow-up MRI 20 d later showed that the swelling and high signal of the left parieto-occipital cortex had disappeared,and the low signal of the subcortex had disappeared.CONCLUSION This case study provides valuable insights into the potential pathogenesis,diagnosis,and treatment of NKH seizures.The comprehensive MRI findings highlight the potential utility of various MRI sequences in diagnosing and characterizing NKH seizures.

Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures

Certain amino acids changes in the human Na^(+)/K^(+)-ATPase pump,ATPase Na^(+)/K^(+)transporting subunit alpha 1(ATP1A1),cause Charcot-Marie-Tooth disease type 2(CMT2)disease and refractory seizures.To develop in vivo models to study the role of Na^(+)/K^(+)-ATPase in these diseases,we modified the Drosophila gene homolog,Atpα,to mimic the human ATP1A1 gene mutations that cause CMT2.Mutations located within the helical linker region of human ATP1A1(I592T,A597T,P600T,and D601F)were simultaneously introduced into endogenous Drosophila Atpαby CRISPR/Cas9-mediated genome editing,generating the Atpα^(TTTF)model.In addition,the same strategy was used to generate the corresponding single point mutations in flies(Atpα^(I571T),Atpα^(A576T),Atpα^(P579T),and Atpα^(D580F)).Moreover,a deletion mutation(Atpα^(mut))that causes premature termination of translation was generated as a positive control.Of these alleles,we found two that could be maintained as homozygotes(Atpα^(I571T)and Atpα^(P579T)).Three alleles(Atpα^(A576T),Atpα^(P579)and Atpα^(D580F))can form heterozygotes with the Atpαmut allele.We found that the Atpαallele carrying these CMT2-associated mutations showed differential phenotypes in Drosophila.Flies heterozygous for Atpα^(TTTF)mutations have motor performance defects,a reduced lifespan,seizures,and an abnormal neuronal morphology.These Drosophila models will provide a new platform for studying the function and regulation of the sodium-potassium pump.

Primary Multiple Cerebral Hydatid Cyst in 8 Year-Old Girl: A Rare Cause of Childhood Seizure

Background: Cystic echinococcosis is a zoonotic infection that occurs worldwide. Humans are infected through ingestion of parasite eggs in contaminated food, water or through direct contact with infected dogs, which are the definite host. Humans serve accidentally as intermediate host, and occurrences are common in children and young adults. Cystic echinococcosis is endemic in Mediterranean, South American, Middle Eastern, Central Asia, East Africa countries and Australia. Multiple cerebral hydatid cysts are very rare with only a few reports in the literature. Case Description: We present the case of an 8-year-old girl who presented with focal seizures, hemiparesis, headache, vomiting and bilateral optic atrophy. Diagnostic workup was performed, and magnetic resonance imaging revealed multiple intracranial cysts predominantly in the right frontal region with significant mass effect. A total of 11 intracranial cysts were removed surgically, and the child recovered uneventfully. Conclusion: Neurosurgeons should keep hydatidosis in the list of differentials when evaluating patients with cystic diseases of the brain. Although the removal of such cysts is challenging, outcomes are excellent when cysts are evacuated without rupture and patients show complete resolution of symptoms.

Lights for epilepsy:can photobiomodulation reduce seizures and offer neuroprotection?

Epilepsy is synonymous with individuals suffering repeated“fits”or seizures.The seizures are triggered by bursts of abnormal neuronal activity,across either the cerebral cortex and/or the hippocampus.In addition,the seizure sites are characterized by considerable neuronal death.Although the factors that generate this abnormal activity and death are not entirely clear,recent evidence indicates that mitochondrial dysfunction plays a central role.Current treatment options include drug therapy,which aims to suppress the abnormal neuronal activity,or surgical intervention,which involves the removal of the brain region generating the seizure activity.However,~30%of patients are unresponsive to the drugs,while the surgery option is invasive and has a morbidity risk.Hence,there is a need for the development of an effective non-pharmacological and non-invasive treatment for this disorder,one that has few side effects.In this review,we consider the effectiveness of a potential new treatment for epilepsy,known as photobiomodulation,the use of red to near-infrared light on body tissues.Recent studies in animal models have shown that photobiomodulation reduces seizure-like activity and improves neuronal survival.Further,it has an excellent safety record,with little or no evidence of side effects,and it is non-invasive.Taken all together,this treatment appears to be an ideal treatment option for patients suffering from epilepsy,which is certainly worthy of further consideration.

Ocimum sanctum extract preserves neuronal echotexture and controls seizure in lithium-pilocarpine induced status epilepticus rats

Objective:To investigate the effect of Ocimum sanctum hydroalcoholic extract(OSHE)on seizure control and neuronal injury in rats with lithium-pilocarpine-induced status epilepticus(SE).Methods:SE was induced by administering lithium chloride followed by pilocarpine 24 h later.OSHE was administered either alone or in combination with valproate(VPA)3 days before SE induction until 14 days post-SE induction.Seizure parameters were recorded on day 1(0-3 h),day 1-3 and day 4-14 post-SE.On day 14 post-SE,neurobehavioural tests(elevated plus maze and passive avoidance)were done followed by total antioxidant capacity,neuron-specific enolase,immunohistochemistry,and electron microscopic assessment in the hippocampus and cortex tissue.Results:OSHE+VPA provided more significant seizure protection(75%)than VPA(62.5%),OSHE(62.5%),or SE control(12.5%)(overall P=0.003).The latency to stage-3/4 seizures was increased and the number of stage-3/4 seizures was reduced in all treatment groups compared to the SE control group(P=0.002 and<0.001,respectively).The OSHE+VPA group also had better memory retention than other treatment groups(P<0.001)in the passive avoidance test.Total antioxidant capacity level was significantly higher and neuron-specific enolase was lower in the OSHE and OSHE+VPA groups compared to the SE control group.Electron microscopic study showed significant myelin sheath damage(67.5%,P<0.05)and axonal degeneration(51.8%,P<0.001)in the hippocampus of the SE control group,which were alleviated by OSHE or OSHE+VPA treatment.In immunohistochemical analysis,the OSHE,OSHE+VPA,and VPA groups had a significantly higher number of viable neurons and less neuronal loss compared to the SE control in the hippocampus(P<0.001).Conclusions:OSHE either alone or in combination with VPA shows better seizure control by preservation of neuronal echotexture and reducing oxidative stress in the hippocampus.

Feature Selection with Deep Belief Network for Epileptic Seizure Detection on EEG Signals

The term Epilepsy refers to a most commonly occurring brain disorder after a migraine.Early identification of incoming seizures significantly impacts the lives of people with Epilepsy.Automated detection of epileptic seizures(ES)has dramatically improved the life quality of the patients.Recent Electroencephalogram(EEG)related seizure detection mechanisms encountered several difficulties in real-time.The EEGs are the non-stationary signal,and seizure patternswould changewith patients and recording sessions.Further,EEG data were disposed to wide noise varieties that adversely moved the recognition accuracy of ESs.Artificial intelligence(AI)methods in the domain of ES analysis use traditional deep learning(DL),and machine learning(ML)approaches.This article introduces an Oppositional Aquila Optimizer-based Feature Selection with Deep Belief Network for Epileptic Seizure Detection(OAOFS-DBNECD)technique using EEG signals.The primary aim of the presented OAOFS-DBNECD system is to categorize and classify the presence of ESs.The suggested OAOFS-DBNECD technique transforms the EEG signals into.csv format at the initial stage.Next,the OAOFS technique selects an optimal subset of features using the preprocessed data.For seizure classification,the presented OAOFS-DBNECD technique applies Artificial Ecosystem Optimizer(AEO)with a deep belief network(DBN)model.An extensive range of simulations was performed on the benchmark dataset to ensure the enhanced performance of the presented OAOFS-DBNECD algorithm.The comparison study shows the significant outcomes of the OAOFS-DBNECD approach over other methodologies.In addition,the result of the suggested approach has been evaluated using the CHB-MIT database,and the findings demonstrate accuracy of 97.81%.These findings confirmed the best seizure categorization accuracy on the EEG data considered.

A Review of the Surgical Procedures for the Treatment of Drug-Resistant Epilepsy and Their Seizure Control Outcomes

Background: Drug-resistant epilepsy can be defined as the existence of seizures within 6 months, despite adequate therapy regimens with one or more antiepileptic drugs. Epilepsy surgery has been the standard therapy to help those patients who suffer from drug-resistant epilepsy. The goal of this surgery is to halt or reduce the intensity of seizures. This literature review aims to provide an overview of existing surgical procedures for the treatment of drug-resistant epilepsy and the degree of seizure control they provide based on available literature. Methods: Data were collected from medical journal databases, aggregators, and individual publications. The most used databases were PubMed, Medline and NCBI. Some of the keywords used to search these databases include: “drug resistant epilepsy”, “seizure control”, and “neurosurgery”. Results: Epileptic surgery is divided into resective and non-resective procedures. Studies have shown that a full resection of the epileptogenic brain area increases the probability of seizure eradication, however, the risks of postoperative impairments grow as the resection area is extended. On the other hand, patients who are unsuitable for seizure focus removal by resective surgery, such as those with multifocal seizures or overlapping epileptogenic zone with a functional cortex, may benefit from non-resective surgical options such as Vagus Nerve Stimulation and Responsive Neurostimulation. Conclusion: This literature review discusses the comprehensive treatment of epilepsy, especially the surgical treatment of drug-resistant epilepsy. The reviewed studies have shown that epilepsy surgery has promising outcomes in achieving seizure freedom/reducing seizure frequency with minimal adverse effects when performed correctly with the appropriate choice of surgical candidates.

Neonatal Seizures: Epidemiological, Diagnostic Aspects and Short-Term Outcome at Issaka Gazoby Maternity Hospital of Niamey, Niger

Introduction: Neonatal seizures are one of the most challenging situations for paediatricians. The objective of this work was to study the epidemiological and diagnostic aspects and short-term outcomes of neonatal seizures at Issaka Gazoby Maternity Hospital in Niamey. Patients and Methods: This was a prospective study from November 2020 to April 2021 in the neonatology department of Issaka Gazoby Maternity Hospital. All newborns aged 0 to 28 days hospitalized for seizures and/or having convulsions during hospitalization were included. Neonatal characteristics, diagnostic aspects, and their outcomes were studied. Data were analyzed using SPSS version 20 software. Results: Of the 3.068 newborns admitted, 69 cases of neonatal seizures were recorded (2.24%). The sex ratio was 1.22, and 94.2% of neonates were born at term. Generalized crises were found in 50.7%. The main etiologies were perinatal asphyxia (46.4%) and early-onset neonatal infection (40.6%). The death rate was 20.3%. Neonates died between one (1) and three (3) days of age in 42.9%. The main death causes were perinatal asphyxia (50%) and early-onset neonatal infection (21.4%). Conclusion: Neonatal seizures are uncommon frequent, with a semiology dominated by generalized seizures. Mortality is high. The reinforcement of preventive measures is necessary.

Epileptic Seizures in Neonates Treated with Hypothermia for Hypoxo-Ischemic Encephalopathy in Brazzaville, Congo: Types and Evolution

Background: Moderate to severe hypoxic-ischemic encephalopathy (HIE) in neonates is often treated with hypothermia. However, some neonates may experience epileptic seizures during therapeutic hypothermia (TH). Data on the electrophysiologic and evolutionary aspects of these seizures are scarce in African countries. Objectives: To determine the types of epileptic seizures caused by HIE in neonates in Brazzaville;to describe the evolution of background EEG activities during TH and rewarming;to report the evolution of epileptic seizures. Methods: This was a cross-sectional, descriptive study conducted from January 2020 to July 2022. It took place in Brazzaville in the Neonatology Department of the Blanche Gomez Mother and Child Hospital. It focused on term neonates suffering from moderate or severe HIE. They were treated with hypothermia combined with phenobarbital for 72 hours. Results: Among 36 neonates meeting inclusion criteria, there were 18 boys and 18 girls. Thirty-one (86.1%) neonates had grade 2 and 5 (13.9%) grade 3 HIE. In our neonates, HIE had induced isolated electrographic seizures (n = 11;30.6%), electroclinical seizures (n = 25;69.4%), and 6 types of background EEG activity. During TH and rewarming, there were 52.8% of patients with improved background EEG activity, 41.7% of patients with unchanged background EEG activity, and 5.5% of patients with worsened background EEG activity. At the end of rewarming, only 9 (25%) patients still had seizures. Conclusion: Isolated electrographic and electroclinical seizures are the only pathological entities found in our studied population. In neonates with moderate HIE, the applied therapeutic strategy positively influences the evolution of both seizures and background EEG activity. On the other hand, in neonates with severe HIE, the same therapeutic strategy is ineffective. .

Audiogram Bone-Conduction Testing Induced Seizure in Patient with Traumatic Brain Injury

In this case report, we discuss a patient who presented with Tullio’s phenomenon, who also experienced bone-conduction induced seizures on two occasions. Tullio’s phenomenon refers to sound induced vestibular symptoms, including disequilibrium oscillopsia, and vertical nystagmus. We were ultimately able to rule out some of the more common pathologies associated with Tullio’s phenomenon for this patient based on imaging findings. However, given the specific nature of her chronic symptoms, as well as her seizure like activity in clinic, we performed a literature search to investigate other less common pathologies associated with Tullio’s phenomenon. Given her past medical history of mixed psychogenic non-epileptic seizures (PNES), there is likely a somatic component to her presentation. However, given the specific and unexpected nature of these events, we propose that her symptoms may also be related to a unique inner ear pathology. Specifically, we feel that she may have exhibited symptoms of vestibular atelectasis, a relatively new otologic diagnosis characterizing the pathologic collapse of the ampulla and utricle, such that the membranous labyrinth contacts the stapes. In this way, loud sounds or changes in pressure may induce vestibular symptoms. Dizzy patients can be a difficult demographic to diagnose and manage, especially when their presentation is complicated by other functional neurologic disorders. Ultimately, we believe that this case report offers helpful insights into a new disease process associated with Tullio’s phenomenon.

Improving control effects of absence seizures using single-pulse alternately resetting stimulation (SARS) of corticothalamic circuit

Presently,we develop a simplified corticothalamic(SCT)model and propose a single-pulse alternately resetting stimulation(SARS)with sequentially applying anodic(A,“+”)or cathodic(C,“−”)phase pulses to the thalamic reticular(RE)nuclei,thalamus-cortex(TC)relay nuclei,and cortical excitatory(EX)neurons,respectively.Abatement effects of ACC-SARS of RE,TC,and EX for the 2 Hz-4 Hz spike and wave discharges(SWD)of absence seizures are then concerned.The m∶n on-off ACC-SARS protocol is shown to effectively reduce the SWD with the least current consumption.In particular,when its frequency is out of the 2 Hz-4 Hz SWD dominant rhythm,the desired seizure abatements can be obtained,which can be further improved by our proposed directional steering(DS)stimulation.The dynamical explanations for the SARS induced seizure abatements are lastly given by calculating the averaged mean firing rate(AMFR)of neurons and triggering averaged mean firing rates(TAMFRs)of 2 Hz-4 Hz SWD.

Epileptic seizure detection using EEG signals and extreme gradient boosting

The problem of automated seizure detection is treated using clinical electroencephalograms(EEG) and machine learning algorithms on the Temple University Hospital EEG Seizure Corpus(TUSZ).Performances on this complex data set are still not encountering expectations.The purpose of this work is to determine to what extent the use of larger amount of data can help to improve the performances.Two methods are explored:a standard partitioning on a recent and larger version of the TUSZ,and a leave-one-out approach used to increase the amount of data for the training set.XGBoost,a fast implementation of the gradient boosting classifier,is the ideal algorithm for these tasks.The performances obtained are in the range of what is reported until now in the literature with deep learning models.We give interpretation to our results by identifying the most relevant features and analyzing performances by seizure types.We show that generalized seizures tend to be far better predicted than focal ones.We also notice that some EEG channels and features are more important than others to distinguish seizure from background.

Needs of exploring the burden of recent onset seizures due to neurocysticercosis and challenges in southeast Asia focusing on scenario in Malaysia

Seizures due to neurocysticercosis(NCC) is a neglected human-to-human transmitted disorder and an emerging problem worldwide.A substantial portion of recent onset seizures is known to be attributed to NCC in Taenia solium(T.solium) endemic areas where populations which neither raise pigs nor eat pig meat are also at risk.High prevalence of NCC causing epilepsy has been reported in the underdeveloped areas of Southeast Asia(SEA) however,only fragmentary information on its incidence is available in countries like Malaysia.In Malaysia T.solium infection was previously thought to be infrequent due to Muslim population majority and the religious prohibition of consuming pork,but it is not totally absent There is an evident lack of knowledge and awareness of the actual burden,routes of transmission,and the impact of NCC in this region.The problem is assumed to be more prevalent particularly in cities because of the frequent inflow of possibly T.solium infected individuals or carriers among those who migrate from neighboring endemic countries to Malaysia.The issue of imported cases that are likely to be emerging in Malaysia is highlighted here.An accurate quantification of regional burdens of epilepsy due to NCC in Malaysia is warranted considering the disease emergence in its neighboring countries.It is suggested that the importance of NCC be recognized through quantification of its burden,and also to collect epidemiological data for its subsequent elimination in line of World Health Organization's mission for control of cysticercosis as a neglected tropical disease.In this review the need as well as a strategy for neurc-care center screening of epilepsy cases,and various issues with possible explanations are discussed.It is also proposed that NCC be declared as a reportable disease which is one of the eradicable public health problems in SEA.

Regulating absence seizures by tri-phase delay stimulation applied to globus pallidus internal

In this paper,a reduced globus pallidus internal(GPI)-corticothalamic(GCT)model is developed,and a tri-phase delay stimulation(TPDS)with sequentially applying three pulses on the GPI representing the inputs from the striatal D_(1)neurons,subthalamic nucleus(STN),and globus pallidus external(GPE),respectively,is proposed.The GPI is evidenced to control absence seizures characterized by 2 Hz–4 Hz spike and wave discharge(SWD).Hence,based on the basal ganglia-thalamocortical(BGCT)model,we firstly explore the triple effects of D_(1)-GPI,GPE-GPI,and STN-GPI pathways on seizure patterns.Then,using the GCT model,we apply the TPDS on the GPI to potentially investigate the alternative and improved approach if these pathways to the GPI are blocked.The results show that the striatum D_(1),GPE,and STN can indeed jointly and significantly affect seizure patterns.In particular,the TPDS can effectively reproduce the seizure pattern if the D_(1)-GPI,GPE-GPI,and STN-GPI pathways are cut off.In addition,the seizure abatement can be obtained by well tuning the TPDS stimulation parameters.This implies that the TPDS can play the surrogate role similar to the modulation of basal ganglia,which hopefully can be helpful for the development of the brain-computer interface in the clinical application of epilepsy.

Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population

This study sought to analyze the genotype and gene mutations of human seizure-related gene 6 in 98 patients with idiopathic generalized epilepsy （non-febrile seizures）, who were selected from three generations of the Chinese Han population living in Shanghai, Zhejiang Province, Wuxi of Jiangsu Province, and Jiangxi Province of Southern China. Twenty-six patients＇ parents were available as a first-degree relatives group and 100 biologically unrelated healthy controls were collected as the control group. Based on the age of onset and seizure type, the patients were divided into six subgroups. Polymerase chain reaction and DNA direct sequencing analysis showed that the most frequent mutations c. 1249dupC （p.Gly418Argfx31 ） and c.1636A 〉 G （p.Thr546Ala） were detected in some idiopathic generalized epilepsy patients and tl^eir asymptomatic first-degree relatives （30.6% vs. 19.2% and 11.2% vs. 26.9%）. A novel mutation c.1807G 〉A （p.Val603Met） was found in a patient with late-onset idiopathic generalized epilepsy. There was no significant difference in the incidence of these three mutations among the different subgroups of idiopathic generalized epilepsy and controls. Thus, further analysis of a larger population is needed to confirm the assumption that human seizure-related gene 6 is a susceptibility gene for idiopathic generalized epilepsy with various sub-syndromes.

Fuzzy-Based Automatic Epileptic Seizure Detection Framework

Detection of epileptic seizures on the basis of Electroencephalogram(EEG)recordings is a challenging task due to the complex,non-stationary and non-linear nature of these biomedical signals.In the existing literature,a number of automatic epileptic seizure detection methods have been proposed that extract useful features from EEG segments and classify them using machine learning algorithms.Some characterizing features of epileptic and non-epileptic EEG signals overlap;therefore,it requires that analysis of signals must be performed from diverse perspectives.Few studies analyzed these signals in diverse domains to identify distinguishing characteristics of epileptic EEG signals.To pose the challenge mentioned above,in this paper,a fuzzy-based epileptic seizure detection model is proposed that incorporates a novel feature extraction and selection method along with fuzzy classifiers.The proposed work extracts pattern features along with time-domain,frequencydomain,and non-linear analysis of signals.It applies a feature selection strategy on extracted features to get more discriminating features that build fuzzy machine learning classifiers for the detection of epileptic seizures.The empirical evaluation of the proposed model was conducted on the benchmark Bonn EEG dataset.It shows significant accuracy of 98%to 100%for normal vs.ictal classification cases while for three class classification of normal vs.inter-ictal vs.ictal accuracy reaches to above 97.5%.The obtained results for ten classification cases(including normal,seizure or ictal,and seizure-free or inter-ictal classes)prove the superior performance of proposed work as compared to other state-of-the-art counterparts.

Seizure-related 6,a brain-specific expression gene,is highly expressed in the human cerebellum

Epilepsy is a complex, Mendelian disease, and most cases are sporadic. Genomic comparisons of tissue from identified monogenic epilepsies with multigenic and acquired syndromes could ultimately reveal crucial molecular neuropathology for an epileptic phenotype. In the present study, a novel gene, human seizure-related （hSEZ）-6, was isolated from a human brain cDNA library. hSEZ-6 comprises 17 exons and spans a region of at least 55.6 kb, which was localized to 17q 12 by radiation hybridization, hSEZ-6 exhibits two isoform types, hSEZ-6A and hSEZ-6B, which encode 996 and 995 amino acids, respectively. The two putative hSEZ-6 proteins contain similar motifs and share 82% and 84% identity with mouse SEZ-6A protein, whose expression level increased in mouse cerebral cortex-derived cells treated with a convulsant drug, pentylentetrazole. Northern blot analysis demonstrated that hSEZ-6 is expressed highly in the cerebellum and in nucleus of the extrapyramidal system, such as the caudate nucleus and putamen. Reverse transcription polymerase chain reaction revealed that hSEZ-6 is expressed in neurons rather than gliocytes, which suggests that hSEZ-6 is a seizure-related gone.