One hundred patients with focal epilepsy were recruited for the present study and their seizures controlled with antiepileptic drugs. The patients then orally received a capsule of tall gastrodis tuber powder, a tradi...One hundred patients with focal epilepsy were recruited for the present study and their seizures controlled with antiepileptic drugs. The patients then orally received a capsule of tall gastrodis tuber powder, a traditional Chinese drug, and underwent single photon emission computed tomography, long-term electroencephalogram, and CT/MRI. Blood drug levels were monitored throughout the study. Before treatment with tall gastrodis tuber, 35 of the 100 cases had abnormal CT/MRI scans; 79 cases had abnormal single photon emission computed tomography images; 86 cases had abnormal electroencephalogram; and a total of 146 abnormal perfusion foci were observed across the 100 subjects. After treatment, the number of patients with normal single photon emission computed tomography images increased by 12; normal electroencephalogram was observed in an additional 27 cases and the number of patients with epileptiform discharge decreased by 29 （34% of 86）; the total number of abnormal perfusion foci decreased by 52 （36%） and changes in abnormal loci were visible in 65 patients. These changes indicate that the administration of tall gastrodis tuber in combination with antiepileptic drugs repairs abnormal perfusion foci in patients with focal epilepsy Our results demonstrate that traditional Chinese drugs can repair abnormal perfusion foci and, as such, are a promising new pathway in the treatment of focal epilepsy.展开更多
Focal epilepsy accounts for 60% of all forms of epilepsy, but the pathogenic mechanism is not well understood. In this study,three novel mutations in NPRL3(nitrogen permease regulator-like 3), c.937_945del, c.1514dup ...Focal epilepsy accounts for 60% of all forms of epilepsy, but the pathogenic mechanism is not well understood. In this study,three novel mutations in NPRL3(nitrogen permease regulator-like 3), c.937_945del, c.1514dup C and 6,706-bp genomic DNA(g DNA) deletion, were identified in three families with focal epilepsy by linkage analysis, whole exome sequencing(WES) and Sanger sequencing. NPRL3 protein is a component of the GATOR1 complex, a major inhibitor of m TOR signaling. These mutations led to truncation of the NPRL3 protein and hampered the binding between NPRL3 and DEPDC5, which is another component of the GATOR1 complex. Consequently, the mutant proteins enhanced m TOR signaling in cultured cells, possibly due to impaired inhibition of m TORC1 by GATOR1. Knockdown of nprl3 in Drosophila resulted in epilepsy-like behavior and abnormal synaptic development. Taken together, these findings expand the genotypic spectrum of NPRL3-associated focal epilepsy and provide further insight into how NPRL3 mutations lead to epilepsy.展开更多
For some patients with drug-resistant focal epilepsy, we usually select conventional surgical resection, which has brought better outcomes. However, others are not eligible for a conventional open surgical resection o...For some patients with drug-resistant focal epilepsy, we usually select conventional surgical resection, which has brought better outcomes. However, others are not eligible for a conventional open surgical resection of the epileptogenic zone because of the proximity of a functional area or the implication of a larger epileptogenic network. Initially, stereoelectroencephalography(SEEG) exploration was a method of electroencephalography recording that was used in the presurgical evaluation of epileptic patients with complex epilepsy. Later, intracerebral electrodes used for SEEG were applied to produce radio frequency thermocoagulation(RF-TC) in epileptic patients. SEEG-guided RF-TC has produced some promising results, especially in the last dacade. Now, it has become popular as a palliative treatment to reduce seizure frequency in patients with drug-resistant focal epilepsy. This article presents a review of SEEG-guided RF-TC.展开更多
Background The TSC1 gene encodes a growth inhibitory protein hamartin,which plays a crucial role in negative regulation of the activity of mTORC1(mechanistic target of rapamycin complex 1).TSC1 has been associated wit...Background The TSC1 gene encodes a growth inhibitory protein hamartin,which plays a crucial role in negative regulation of the activity of mTORC1(mechanistic target of rapamycin complex 1).TSC1 has been associated with tuberous sclerosis complex(TSC).This study aims to investigate the association between TSC1 variants and common epilepsy.Methods Trio-based whole-exome sequencing was performed in epilepsy patients without acquired etiologies from the China Epilepsy Gene 1.0 Project platform.The pathogenicity of the variants was evaluated according to the American College of Medical Genetics and Genomic(ACMG)guidelines.Results Two TSC1 de novo variants,including c.1498 C>T/p.Arg500*and c.2356 C>T/p.Arg786*,were identifed in two patients with developmental and epileptic encephalopathy(DEE).The patients exhibited frequent seizures and neurodevelopmental delay.Additionally,we identifed two heterozygous TSC1 variants that afected four individuals with focal epilepsy from two unrelated families.The four probands did not present any typical symptom of TSC and had normal brain MRI fndings.The four variants were absent in the Genome Aggregation Database(gnomAD)and were predicted to be damaging with a in silico prediction tool.Based on the ACMG guidelines,the four variants were evaluated to be“pathogenic”or“likely pathogenic”.Of the patients in the China Epilepsy Gene 1.0 Project,22 patients carried TSC1 variants and were diagnosed with TSC.The ratio of patients carrying TSC1 variants with or without TSC is about 5:1.Conclusions TSC1 is potentially associated with common epilepsy without tuberous sclerosis.展开更多
Background and objective: Generating and characterizing primate models of epileptic seizures are important for understanding pathophysiology of diseases and establishing preclinical efficacy of novel therapies like De...Background and objective: Generating and characterizing primate models of epileptic seizures are important for understanding pathophysiology of diseases and establishing preclinical efficacy of novel therapies like Deep Brain Stimulation. A focal motor epilepsy model is described here. Method: Seizures were obtained after intracortical penicillin injection into the motor strip through a cannula in two awake monkeys and electrocorticograms were recorded by epidural screws. Seizures were analyzed and compared for number, average duration of each seizure and total duration of ictal activity. Pharmaco-resistance for antiepileptic drug was tested by administration of Diazepam during seizures. Results: A motor status with seizures mimicking those seen in Kojevnikov’s syndrome was easily generated several minutes after penicillin injection and lasted 24 h on an average. The model thus characterized appears stable and consistent. There is no significant variation between experiments in individual primate as well as between two specimens. Diazepam though reduced the total duration of seizures, failed to abolish behavioural seizures. Conclusion: This model represents a good alternative model for preclinical research aiming at testing novel therapies because seizures are obtained on demand, last up to 24 h after a single penicillin injection, are stable and resistant to Diazepam.展开更多
Background:To evaluate the efficacy and safety of the first cohort of people in China treated with a responsive neurostimulation system(Epilcure^(TM),GenLight MedTech,Hangzhou,China)for focal drug-resistant epilepsy i...Background:To evaluate the efficacy and safety of the first cohort of people in China treated with a responsive neurostimulation system(Epilcure^(TM),GenLight MedTech,Hangzhou,China)for focal drug-resistant epilepsy in this study.Methods:This multicenter,before-and-after self-controlled study was conducted across 8 centers from March 2022 to June 2023,involving patients with drug-resistant epilepsy who were undergoing responsive neurostimulation(RNS).The study was based on an ongoing multi-center,single-blind,randomized controlled study.Efficacy was assessed through metrics including median seizure count,seizure frequency reduction(SFR),and response rate.Multivariable linear regression analysis was conducted to explore the relationships of basic clinical factors and intracranial electrophysiological characteristics with SFR.The postoperative quality of life,cognitive function,depression,and anxiety were evaluated as well.Results:The follow-up period for the 19 participants was 10.7±3.4 months.Seizure counts decreased significantly 6 months after device activation,with median SFR of 48%at the 6th month(M6)and 58%at M12(P<0.05).The average response rate after 13 months of treatment was 42%,with 21%(n=4)of the participants achieving seizure freedom.Patients who have previously undergone resective surgery appear to achieve better therapeutic outcomes at M11,M12 and M13(β<0,P<0.05).No statistically significant differences were observed in patients’scores of quality of life,cognition,depression and anxiety following stimulation when compared to baseline measurements.No serious adverse events related to the devices were observed.Conclusions:The preliminary findings suggest that Epilcure TM exhibits promising therapeutic potential in reducing the frequency of epileptic seizures.However,to further validate its efficacy,larger-scale randomized controlled trials are required.Registration:Chinese Clinical Trial Registry(No.ChiCTR2200055247)展开更多
Temporal lobe epilepsy(TLE)is the most common form of focal epilepsy in adults,with approximately 30%of patients developing drug resistance and requiring surgical evaluation[1].Epilepsy surgery achieves seizure-freedo...Temporal lobe epilepsy(TLE)is the most common form of focal epilepsy in adults,with approximately 30%of patients developing drug resistance and requiring surgical evaluation[1].Epilepsy surgery achieves seizure-freedom in a substantial proportion of cases[2].However,complex presentations of TLE remain difficult to manage surgically due to incongruent or indeterminate presurgical findings,which complicate delineation of the epileptogenic zone(EZ)and increase the likelihood of treatment failure.展开更多
Objective To summarize theclinical and electrophysiological characteristics of epilepsy patients with fixation-off sensitivity(FOS).Methods Using“fixation-off sensitivity"”and“epilepsy”as search terms,data we...Objective To summarize theclinical and electrophysiological characteristics of epilepsy patients with fixation-off sensitivity(FOS).Methods Using“fixation-off sensitivity"”and“epilepsy”as search terms,data were retrievedd from the Electroencephalogram Monitoring Center Database of Xijing Hospital,Air Force Military Medical University.Information was collected on epilepsy patients with FOS who were seen at the Xijing Hospital Electroencephalogram Monitoring Center from March 2019 to May 2023.A retrospective analysis of video electroencephalograms and clinical information was conducted,along with follow-up.Single factor analysis and multi-factor Logistic regression analysis were used to analyze the risk factors affecting the prognosis of the patients.Results A total of 78 patients met the inclusion criteria,including 43 females and 35 males;the age at first epilepsy onset was 12.00(8.00,15.25)years.Among these 78 patients,46 were diagnosed with genetic generalized epilepsy,11 with self-limited focal epilepy,9 with familial cortical myoclonic tremor with epilepsy,7 with developmental and epileptic encephalopathy,3 with symptomatic epilepsy,and 2 with progressive myoclonic epilepsy.The fixation-off induction trial most commonly triggered seizures in epilepsy with eyelid myoclonia(EEM)patients,with eyelid myoclonia being the most common type of seizure.Twenty-five epilepsy patients with FOS showed a positive photoparoxysmal response,of whom 6 experienced photo-convulsive response.Sixtyeight patients completed follow-up with comprehensive clinical data.At the last follow-up,45 patients had been free from tonic-clonic seizures for at least one year.A history of febrile seizures(OR=20.559,95%CI 2.179-193.997,P=0.008)and cognitive decline(0R=3.752,95%CI 1.118-12.588,P=0.032)were identified as risk factors for poor prognosis in epilepsy patients with FOS.The age of first epilepsy onset,the number of antiseizure medications,and the intermittent photo stimulation trial results had no correlation with prognosis.Conclusion FOS is more common in female epilepsy patients and can be observed in both generalized and focal epilepsy syndromes.EEM patients are prone to seizures during fixation-off induction trial,and the most common type of seizures is eyelid myoclonus seizure.Patients with epilepsy with FOS who have a history of febrile seizures and cognitive impairment tend to have poor prognosis.展开更多
Recently,a novel workflow known as the virtual epileptic patient(VEP)has been proposed by a research team from Aix Marseille Universitéin their papers published in Lancet Neurology,Science Translational Medicine ...Recently,a novel workflow known as the virtual epileptic patient(VEP)has been proposed by a research team from Aix Marseille Universitéin their papers published in Lancet Neurology,Science Translational Medicine and Epilepsia.This method involves creating an individualized virtual brain model based on computational modelling,which can facilitate clinical decision-making by estimating the epileptogenic zone and performing the virtual surgery.Here,we summarize brief workflow,strengths,and limitations of VEP,as well as its performance in a retrospective study of 53 patients with drug-resistant focal epilepsy who underwent stereoelectroencephalography.A large-scale clinical trial(NCT03643016)is underway to further assess VEP,which is expected to enroll 356 patients prospectively.As supporting evidence accumulates,the clinical application of VEP has the potential to improve clinical practice,leading to better outcomes and qualities of life of patients.展开更多
Background In the new International League Against Epilepsy(ILAE)classification of seizure types,generalized seizures such as absence seizures(ASs)may originate from a focal point and rapidly spread to the bilaterally...Background In the new International League Against Epilepsy(ILAE)classification of seizure types,generalized seizures such as absence seizures(ASs)may originate from a focal point and rapidly spread to the bilaterally distributed brain network.Increasing evidence from animal and clinical studies has indicated that focal changes may occur prior to ASs;however,the relationship of ASs with epileptogenic lesions remains unclear.Methods We retrospectively collected and analyzed the clinical,imaging,and electrophysiological data of 16 patients who had ASs and structural lesions with seizure-free outcomes after lesion resection.Results In semiology analysis,nine patients displayed focal onset;only two patients showed simple ASs,and seizure types other than ASs were observed in the remaining patients.On ictal electroencephalography(EEG),four patients showed bilateral synchronous symmetric 3 Hz generalized spike-wave discharges(GSWDs),and the remaining patients showed bilateral 1.5–2.5 Hz GSWDs.Moreover,most patients(13/16,81.3%)exhibited focal features in addition to ASs,while interictal EEG was the same in 12 patients.Furthermore,on stereoelectroencephalogram(SEEG),2/5 patients showed focal discharges before bilateral burst GSWDs.Additionally,all patients had structural lesions on imaging.In four typical AS patients,the lesions were located in deep brain regions.Notably,in 9 patients(9/16,56%),the lesions were located in the posterior cortex.All patients underwent lesion resection and had seizure-free outcomes during follow-up,and intelligence quotient(IQ)also improved by 10.71±3.90 one year after surgery.Conclusions Patients with lesion-related epilepsy may present with ASs that have a focal onset and are associated with good surgical outcomes.展开更多
基金funded by the Key Project of Gansu Province, No.2GS054-A43-014-19
文摘One hundred patients with focal epilepsy were recruited for the present study and their seizures controlled with antiepileptic drugs. The patients then orally received a capsule of tall gastrodis tuber powder, a traditional Chinese drug, and underwent single photon emission computed tomography, long-term electroencephalogram, and CT/MRI. Blood drug levels were monitored throughout the study. Before treatment with tall gastrodis tuber, 35 of the 100 cases had abnormal CT/MRI scans; 79 cases had abnormal single photon emission computed tomography images; 86 cases had abnormal electroencephalogram; and a total of 146 abnormal perfusion foci were observed across the 100 subjects. After treatment, the number of patients with normal single photon emission computed tomography images increased by 12; normal electroencephalogram was observed in an additional 27 cases and the number of patients with epileptiform discharge decreased by 29 （34% of 86）; the total number of abnormal perfusion foci decreased by 52 （36%） and changes in abnormal loci were visible in 65 patients. These changes indicate that the administration of tall gastrodis tuber in combination with antiepileptic drugs repairs abnormal perfusion foci in patients with focal epilepsy Our results demonstrate that traditional Chinese drugs can repair abnormal perfusion foci and, as such, are a promising new pathway in the treatment of focal epilepsy.
基金supported by the National Natural Science Foundation of China (32270663, 31871262, U20A20355,32022035)Shanghai Municipal Science and Technology Major Project(2018SHZDZX05)the Ministry of Science and Technology of China STI2030-Major Projects (2021ZD0203202)。
文摘Focal epilepsy accounts for 60% of all forms of epilepsy, but the pathogenic mechanism is not well understood. In this study,three novel mutations in NPRL3(nitrogen permease regulator-like 3), c.937_945del, c.1514dup C and 6,706-bp genomic DNA(g DNA) deletion, were identified in three families with focal epilepsy by linkage analysis, whole exome sequencing(WES) and Sanger sequencing. NPRL3 protein is a component of the GATOR1 complex, a major inhibitor of m TOR signaling. These mutations led to truncation of the NPRL3 protein and hampered the binding between NPRL3 and DEPDC5, which is another component of the GATOR1 complex. Consequently, the mutant proteins enhanced m TOR signaling in cultured cells, possibly due to impaired inhibition of m TORC1 by GATOR1. Knockdown of nprl3 in Drosophila resulted in epilepsy-like behavior and abnormal synaptic development. Taken together, these findings expand the genotypic spectrum of NPRL3-associated focal epilepsy and provide further insight into how NPRL3 mutations lead to epilepsy.
基金Supported by Tsinghua University Initiative Scientific Research Program(No.2015THZ01)
文摘For some patients with drug-resistant focal epilepsy, we usually select conventional surgical resection, which has brought better outcomes. However, others are not eligible for a conventional open surgical resection of the epileptogenic zone because of the proximity of a functional area or the implication of a larger epileptogenic network. Initially, stereoelectroencephalography(SEEG) exploration was a method of electroencephalography recording that was used in the presurgical evaluation of epileptic patients with complex epilepsy. Later, intracerebral electrodes used for SEEG were applied to produce radio frequency thermocoagulation(RF-TC) in epileptic patients. SEEG-guided RF-TC has produced some promising results, especially in the last dacade. Now, it has become popular as a palliative treatment to reduce seizure frequency in patients with drug-resistant focal epilepsy. This article presents a review of SEEG-guided RF-TC.
基金supported by the National Natural Science Foundation of China(82271505)Guangzhou Medical University Student Innovation Ability Promoting Program(2022A045).
文摘Background The TSC1 gene encodes a growth inhibitory protein hamartin,which plays a crucial role in negative regulation of the activity of mTORC1(mechanistic target of rapamycin complex 1).TSC1 has been associated with tuberous sclerosis complex(TSC).This study aims to investigate the association between TSC1 variants and common epilepsy.Methods Trio-based whole-exome sequencing was performed in epilepsy patients without acquired etiologies from the China Epilepsy Gene 1.0 Project platform.The pathogenicity of the variants was evaluated according to the American College of Medical Genetics and Genomic(ACMG)guidelines.Results Two TSC1 de novo variants,including c.1498 C>T/p.Arg500*and c.2356 C>T/p.Arg786*,were identifed in two patients with developmental and epileptic encephalopathy(DEE).The patients exhibited frequent seizures and neurodevelopmental delay.Additionally,we identifed two heterozygous TSC1 variants that afected four individuals with focal epilepsy from two unrelated families.The four probands did not present any typical symptom of TSC and had normal brain MRI fndings.The four variants were absent in the Genome Aggregation Database(gnomAD)and were predicted to be damaging with a in silico prediction tool.Based on the ACMG guidelines,the four variants were evaluated to be“pathogenic”or“likely pathogenic”.Of the patients in the China Epilepsy Gene 1.0 Project,22 patients carried TSC1 variants and were diagnosed with TSC.The ratio of patients carrying TSC1 variants with or without TSC is about 5:1.Conclusions TSC1 is potentially associated with common epilepsy without tuberous sclerosis.
基金supported by“Fondation de l’avenir”and Medtronic Europe.
文摘Background and objective: Generating and characterizing primate models of epileptic seizures are important for understanding pathophysiology of diseases and establishing preclinical efficacy of novel therapies like Deep Brain Stimulation. A focal motor epilepsy model is described here. Method: Seizures were obtained after intracortical penicillin injection into the motor strip through a cannula in two awake monkeys and electrocorticograms were recorded by epidural screws. Seizures were analyzed and compared for number, average duration of each seizure and total duration of ictal activity. Pharmaco-resistance for antiepileptic drug was tested by administration of Diazepam during seizures. Results: A motor status with seizures mimicking those seen in Kojevnikov’s syndrome was easily generated several minutes after penicillin injection and lasted 24 h on an average. The model thus characterized appears stable and consistent. There is no significant variation between experiments in individual primate as well as between two specimens. Diazepam though reduced the total duration of seizures, failed to abolish behavioural seizures. Conclusion: This model represents a good alternative model for preclinical research aiming at testing novel therapies because seizures are obtained on demand, last up to 24 h after a single penicillin injection, are stable and resistant to Diazepam.
基金supported by the Beijing Municipal Health Commission(No.2022-2-2011)National Natural Science Foundation of China(No.82030037)the Translational and Application Project of Brain-inspired and Network Neuroscience on Brain Disorders(No.11000023T000002036286).
文摘Background:To evaluate the efficacy and safety of the first cohort of people in China treated with a responsive neurostimulation system(Epilcure^(TM),GenLight MedTech,Hangzhou,China)for focal drug-resistant epilepsy in this study.Methods:This multicenter,before-and-after self-controlled study was conducted across 8 centers from March 2022 to June 2023,involving patients with drug-resistant epilepsy who were undergoing responsive neurostimulation(RNS).The study was based on an ongoing multi-center,single-blind,randomized controlled study.Efficacy was assessed through metrics including median seizure count,seizure frequency reduction(SFR),and response rate.Multivariable linear regression analysis was conducted to explore the relationships of basic clinical factors and intracranial electrophysiological characteristics with SFR.The postoperative quality of life,cognitive function,depression,and anxiety were evaluated as well.Results:The follow-up period for the 19 participants was 10.7±3.4 months.Seizure counts decreased significantly 6 months after device activation,with median SFR of 48%at the 6th month(M6)and 58%at M12(P<0.05).The average response rate after 13 months of treatment was 42%,with 21%(n=4)of the participants achieving seizure freedom.Patients who have previously undergone resective surgery appear to achieve better therapeutic outcomes at M11,M12 and M13(β<0,P<0.05).No statistically significant differences were observed in patients’scores of quality of life,cognition,depression and anxiety following stimulation when compared to baseline measurements.No serious adverse events related to the devices were observed.Conclusions:The preliminary findings suggest that Epilcure TM exhibits promising therapeutic potential in reducing the frequency of epileptic seizures.However,to further validate its efficacy,larger-scale randomized controlled trials are required.Registration:Chinese Clinical Trial Registry(No.ChiCTR2200055247)
基金supported by the Beijing Municipal Science&Technology Commission(Z231100004823035)the Capital Medical University Cultivation Project(PYZ24128)CAAE Epilepsy Research Fund(CU-2024-010).
文摘Temporal lobe epilepsy(TLE)is the most common form of focal epilepsy in adults,with approximately 30%of patients developing drug resistance and requiring surgical evaluation[1].Epilepsy surgery achieves seizure-freedom in a substantial proportion of cases[2].However,complex presentations of TLE remain difficult to manage surgically due to incongruent or indeterminate presurgical findings,which complicate delineation of the epileptogenic zone(EZ)and increase the likelihood of treatment failure.
文摘Objective To summarize theclinical and electrophysiological characteristics of epilepsy patients with fixation-off sensitivity(FOS).Methods Using“fixation-off sensitivity"”and“epilepsy”as search terms,data were retrievedd from the Electroencephalogram Monitoring Center Database of Xijing Hospital,Air Force Military Medical University.Information was collected on epilepsy patients with FOS who were seen at the Xijing Hospital Electroencephalogram Monitoring Center from March 2019 to May 2023.A retrospective analysis of video electroencephalograms and clinical information was conducted,along with follow-up.Single factor analysis and multi-factor Logistic regression analysis were used to analyze the risk factors affecting the prognosis of the patients.Results A total of 78 patients met the inclusion criteria,including 43 females and 35 males;the age at first epilepsy onset was 12.00(8.00,15.25)years.Among these 78 patients,46 were diagnosed with genetic generalized epilepsy,11 with self-limited focal epilepy,9 with familial cortical myoclonic tremor with epilepsy,7 with developmental and epileptic encephalopathy,3 with symptomatic epilepsy,and 2 with progressive myoclonic epilepsy.The fixation-off induction trial most commonly triggered seizures in epilepsy with eyelid myoclonia(EEM)patients,with eyelid myoclonia being the most common type of seizure.Twenty-five epilepsy patients with FOS showed a positive photoparoxysmal response,of whom 6 experienced photo-convulsive response.Sixtyeight patients completed follow-up with comprehensive clinical data.At the last follow-up,45 patients had been free from tonic-clonic seizures for at least one year.A history of febrile seizures(OR=20.559,95%CI 2.179-193.997,P=0.008)and cognitive decline(0R=3.752,95%CI 1.118-12.588,P=0.032)were identified as risk factors for poor prognosis in epilepsy patients with FOS.The age of first epilepsy onset,the number of antiseizure medications,and the intermittent photo stimulation trial results had no correlation with prognosis.Conclusion FOS is more common in female epilepsy patients and can be observed in both generalized and focal epilepsy syndromes.EEM patients are prone to seizures during fixation-off induction trial,and the most common type of seizures is eyelid myoclonus seizure.Patients with epilepsy with FOS who have a history of febrile seizures and cognitive impairment tend to have poor prognosis.
基金This work was supported by the National Key R&D Program of China(No.2022YFC2503800)the National Natural Science Foundation of China(No.82071454)Beijing Municipal Science&Technology Commission(No.Z211100002921032).
文摘Recently,a novel workflow known as the virtual epileptic patient(VEP)has been proposed by a research team from Aix Marseille Universitéin their papers published in Lancet Neurology,Science Translational Medicine and Epilepsia.This method involves creating an individualized virtual brain model based on computational modelling,which can facilitate clinical decision-making by estimating the epileptogenic zone and performing the virtual surgery.Here,we summarize brief workflow,strengths,and limitations of VEP,as well as its performance in a retrospective study of 53 patients with drug-resistant focal epilepsy who underwent stereoelectroencephalography.A large-scale clinical trial(NCT03643016)is underway to further assess VEP,which is expected to enroll 356 patients prospectively.As supporting evidence accumulates,the clinical application of VEP has the potential to improve clinical practice,leading to better outcomes and qualities of life of patients.
基金The National Natural Science Foundation of China supported this work(82171448,82201613).
文摘Background In the new International League Against Epilepsy(ILAE)classification of seizure types,generalized seizures such as absence seizures(ASs)may originate from a focal point and rapidly spread to the bilaterally distributed brain network.Increasing evidence from animal and clinical studies has indicated that focal changes may occur prior to ASs;however,the relationship of ASs with epileptogenic lesions remains unclear.Methods We retrospectively collected and analyzed the clinical,imaging,and electrophysiological data of 16 patients who had ASs and structural lesions with seizure-free outcomes after lesion resection.Results In semiology analysis,nine patients displayed focal onset;only two patients showed simple ASs,and seizure types other than ASs were observed in the remaining patients.On ictal electroencephalography(EEG),four patients showed bilateral synchronous symmetric 3 Hz generalized spike-wave discharges(GSWDs),and the remaining patients showed bilateral 1.5–2.5 Hz GSWDs.Moreover,most patients(13/16,81.3%)exhibited focal features in addition to ASs,while interictal EEG was the same in 12 patients.Furthermore,on stereoelectroencephalogram(SEEG),2/5 patients showed focal discharges before bilateral burst GSWDs.Additionally,all patients had structural lesions on imaging.In four typical AS patients,the lesions were located in deep brain regions.Notably,in 9 patients(9/16,56%),the lesions were located in the posterior cortex.All patients underwent lesion resection and had seizure-free outcomes during follow-up,and intelligence quotient(IQ)also improved by 10.71±3.90 one year after surgery.Conclusions Patients with lesion-related epilepsy may present with ASs that have a focal onset and are associated with good surgical outcomes.
