Epileptic seizure control and the disappearance of epileptJform discharge are not indicative of the absence of abnormal perfusion foci. Perfusion abnormalities are a major cause of epileptic discharge, and the existen...Epileptic seizure control and the disappearance of epileptJform discharge are not indicative of the absence of abnormal perfusion foci. Perfusion abnormalities are a major cause of epileptic discharge, and the existence of abnormal perfusion loci implies possible relapse. Very little is known about perfusion abnormality repair in epilepsy. The present study selected 43 cases of idiopathic epilepsy under antiepileptic drug control for an average of 24 months. Comparisons between interictal single-photon emission CT (SPECT) images and long-term electroencephalogram (EEG) pre- and post-treatment showed that cases of normal SPECT increased by 48% (12/25) following treatment, with a total number of 15 reduced loci (,36%, 15/41 ). Perfusion foci, Le., region of interest, were altered following treatment. These changes included: normal to abnormal in 3 cases (7%, 3/43; 2 hyperperfusion and 1 hypoperfusion); abnormal to normal in 14 cases (32%, 14/43; 10 pre-treatment hypopeffusion and 4 hyperperfusion); abnormal to abnormal in 7 cases (16%, 7/43; hyperperfusion to hypoperfusion in 5 cases, hypoperfusion to hyperpeffusion in 2 cases). Long-term EEG revealed in an increase in the number of normal cases by 20 (40%, 20/39), and there were 25 fewer cases with epileptiform discharges (66%, 25/38). These findings demonstrate that long-term control of anti-epileptic drugs partially repaired cerebral perfusion abnormalities and reduced epileptiform discharges in idiopathic epilepsy.展开更多
The basal ganglia have been implicated in a modulation role in idiopathic generalized epilepsy (IGE) by an invasive electrophysioigic means. This paper investigates the basal ganglia functional connectivity by using...The basal ganglia have been implicated in a modulation role in idiopathic generalized epilepsy (IGE) by an invasive electrophysioigic means. This paper investigates the basal ganglia functional connectivity by using the region-wise functional connection analysis in resting-state functional magnetic resonance imaging (fMRI) in IGE. The increased functional connectivity within basal ganglia, and between the basal ganglia and the thalamus, and decreased functional connectivity between basal ganglia and motor cortex are found in IGE compared with the controls. These findings not only implicate dysfunctional integration in the motor loop in IGE and the enhanced interaction in the modulated loop, but also suggest that the basal ganglia modulate the generalized epileptic discharges with the influence over thalamus in the corticothalamus network.展开更多
Juvenile myoclonic epilepsy (JME) is characterised by myoclonia during awakening, generalised tonic-clonic seizures, typical absences and usually presents for the first time at the age of 12 to 18 years old. This arti...Juvenile myoclonic epilepsy (JME) is characterised by myoclonia during awakening, generalised tonic-clonic seizures, typical absences and usually presents for the first time at the age of 12 to 18 years old. This article describes the results of a clinical study into JME phenotypes in patients living in the Siberian Federal District. We have shown that the incidence of JME among males was lower than among females (1:1.9) and JME debut age for males was higher than in those women. Classical phenotype of JME (Type I) was dominant and more common in males compared to females—70.4% vs. 58.5%, respectively. The JME phenotype with worse prognosis in terms of achieving stable clinical remission (Type II) occurred 3.5 times more frequently among female patients compared to male (13.2% vs. 3.7% respectively). The findings resulting from this study give a deeper insight into the diagnosis and prognosis of this form of idiopathic generalised epilepsy in predisposed families.展开更多
Juvenile myoclonic epilepsy (JME) is one of the most common types of idiopathic generalised epilepsy. It starts in teenage years, yet it is frequently misdiagnosed or diagnosed very late, thereby resulting in inadequa...Juvenile myoclonic epilepsy (JME) is one of the most common types of idiopathic generalised epilepsy. It starts in teenage years, yet it is frequently misdiagnosed or diagnosed very late, thereby resulting in inadequate therapy plan and worsening of symptoms. Timely diagnosis of JME is crucial for the correct management of symptoms and prevention of disease development. In this case report we describe a case of a 33-year-old woman who did not receive appropriate care due to a late diagnosis of her JME condition.展开更多
Epilepsy is a neurological disease characterized by excessive and abnormal hyper-synchrony of electrical discharges of the brain and a predisposition to generate epileptic seizures resulting in a broad spectrum of neu...Epilepsy is a neurological disease characterized by excessive and abnormal hyper-synchrony of electrical discharges of the brain and a predisposition to generate epileptic seizures resulting in a broad spectrum of neurobiological insults,imposing psychological,cognitive,social and also economic burdens to the sufferer.Voltage-gated sodium channels(VGSCs)are essential for the generation and propagation of action potentials throughout the central nervous system.Dysfunction of these channels has been implicated in the pathogenesis of epilepsy.VGSC inhibitors have been demonstrated to act as anticonvulsants to suppress the abnormal neuronal firing underlying epileptic seizures,and are used for the management and treatment of both genetic-idiopathic and acquired epilepsies.We discuss the forms of idiopathic and acquired epilepsies caused by VGSC mutations and the therapeutic efficacy of VGSC blockers in idiopathic,acquired and pharmacoresistant forms of epilepsy in this review.We conclude that there is a need for better alternative therapies that can be used alone or in combination with VGSC inhibitors in the management of epilepsies.The current anti-seizure medications(ASMs)especially for pharmacoresistant epilepsies and some other types of epilepsy have not yielded expected therapeutic efficacy partly because they do not show subtype-selectivity in blocking sodium channels while also bringing side effects.Therefore,there is a need to develop novel drug cocktails with enhanced selectivity for specific VGSC isoforms,to achieve better treatment of pharmacoresistant epilepsies and other types of epileptic seizures.展开更多
Background:We performed this meta-analysis to investigate the association between GABRG2 rs211037polymorphism and the risk for idiopathic generalized epilepsies(IGEs).Methods:Medline,Embase,Cochrane Library and Chines...Background:We performed this meta-analysis to investigate the association between GABRG2 rs211037polymorphism and the risk for idiopathic generalized epilepsies(IGEs).Methods:Medline,Embase,Cochrane Library and Chinese National Knowledge Infrastructure(CNKI)databases were searched for eligible studies(until May 5,2020)on the association between GABRG2 rs211037 polymorphism and IGE.The odds ratios were calculated using a fixed or random model in STATA 15.0 software.Subgroup analyses for ethnicity,age,source of controls,type of seizure syndrome and therapeutic responses were conducted.Results:We found no significant associations between GABRG2 rs211037 polymorphism and the susceptibility to IGEs.In addition,no significant association was detected between GABRG2 rs211037 polymorphism and drug resistance in IGE patients.The results did not change after stratification by Asian population,healthy controls,children,juvenile myoclonic epilepsy,and childhood absence epilepsy.Conclusion:The current studies indicated that the GABRG2 rs211037 polymorphism was not related to susceptibility or drug resistance of IGE.Further well-designed studies are needed to verify the results.展开更多
文摘Epileptic seizure control and the disappearance of epileptJform discharge are not indicative of the absence of abnormal perfusion foci. Perfusion abnormalities are a major cause of epileptic discharge, and the existence of abnormal perfusion loci implies possible relapse. Very little is known about perfusion abnormality repair in epilepsy. The present study selected 43 cases of idiopathic epilepsy under antiepileptic drug control for an average of 24 months. Comparisons between interictal single-photon emission CT (SPECT) images and long-term electroencephalogram (EEG) pre- and post-treatment showed that cases of normal SPECT increased by 48% (12/25) following treatment, with a total number of 15 reduced loci (,36%, 15/41 ). Perfusion foci, Le., region of interest, were altered following treatment. These changes included: normal to abnormal in 3 cases (7%, 3/43; 2 hyperperfusion and 1 hypoperfusion); abnormal to normal in 14 cases (32%, 14/43; 10 pre-treatment hypopeffusion and 4 hyperperfusion); abnormal to abnormal in 7 cases (16%, 7/43; hyperperfusion to hypoperfusion in 5 cases, hypoperfusion to hyperpeffusion in 2 cases). Long-term EEG revealed in an increase in the number of normal cases by 20 (40%, 20/39), and there were 25 fewer cases with epileptiform discharges (66%, 25/38). These findings demonstrate that long-term control of anti-epileptic drugs partially repaired cerebral perfusion abnormalities and reduced epileptiform discharges in idiopathic epilepsy.
基金supported by the National Natural Science Foundation of China under Grant No. 81071222
文摘The basal ganglia have been implicated in a modulation role in idiopathic generalized epilepsy (IGE) by an invasive electrophysioigic means. This paper investigates the basal ganglia functional connectivity by using the region-wise functional connection analysis in resting-state functional magnetic resonance imaging (fMRI) in IGE. The increased functional connectivity within basal ganglia, and between the basal ganglia and the thalamus, and decreased functional connectivity between basal ganglia and motor cortex are found in IGE compared with the controls. These findings not only implicate dysfunctional integration in the motor loop in IGE and the enhanced interaction in the modulated loop, but also suggest that the basal ganglia modulate the generalized epileptic discharges with the influence over thalamus in the corticothalamus network.
文摘Juvenile myoclonic epilepsy (JME) is characterised by myoclonia during awakening, generalised tonic-clonic seizures, typical absences and usually presents for the first time at the age of 12 to 18 years old. This article describes the results of a clinical study into JME phenotypes in patients living in the Siberian Federal District. We have shown that the incidence of JME among males was lower than among females (1:1.9) and JME debut age for males was higher than in those women. Classical phenotype of JME (Type I) was dominant and more common in males compared to females—70.4% vs. 58.5%, respectively. The JME phenotype with worse prognosis in terms of achieving stable clinical remission (Type II) occurred 3.5 times more frequently among female patients compared to male (13.2% vs. 3.7% respectively). The findings resulting from this study give a deeper insight into the diagnosis and prognosis of this form of idiopathic generalised epilepsy in predisposed families.
文摘Juvenile myoclonic epilepsy (JME) is one of the most common types of idiopathic generalised epilepsy. It starts in teenage years, yet it is frequently misdiagnosed or diagnosed very late, thereby resulting in inadequate therapy plan and worsening of symptoms. Timely diagnosis of JME is crucial for the correct management of symptoms and prevention of disease development. In this case report we describe a case of a 33-year-old woman who did not receive appropriate care due to a late diagnosis of her JME condition.
文摘Epilepsy is a neurological disease characterized by excessive and abnormal hyper-synchrony of electrical discharges of the brain and a predisposition to generate epileptic seizures resulting in a broad spectrum of neurobiological insults,imposing psychological,cognitive,social and also economic burdens to the sufferer.Voltage-gated sodium channels(VGSCs)are essential for the generation and propagation of action potentials throughout the central nervous system.Dysfunction of these channels has been implicated in the pathogenesis of epilepsy.VGSC inhibitors have been demonstrated to act as anticonvulsants to suppress the abnormal neuronal firing underlying epileptic seizures,and are used for the management and treatment of both genetic-idiopathic and acquired epilepsies.We discuss the forms of idiopathic and acquired epilepsies caused by VGSC mutations and the therapeutic efficacy of VGSC blockers in idiopathic,acquired and pharmacoresistant forms of epilepsy in this review.We conclude that there is a need for better alternative therapies that can be used alone or in combination with VGSC inhibitors in the management of epilepsies.The current anti-seizure medications(ASMs)especially for pharmacoresistant epilepsies and some other types of epilepsy have not yielded expected therapeutic efficacy partly because they do not show subtype-selectivity in blocking sodium channels while also bringing side effects.Therefore,there is a need to develop novel drug cocktails with enhanced selectivity for specific VGSC isoforms,to achieve better treatment of pharmacoresistant epilepsies and other types of epileptic seizures.
基金supported by the National Natural Science Foundation of Shandong,China(item number ZR2019PH040)the National Natural Science Foundation of China(item number 81901321).
文摘Background:We performed this meta-analysis to investigate the association between GABRG2 rs211037polymorphism and the risk for idiopathic generalized epilepsies(IGEs).Methods:Medline,Embase,Cochrane Library and Chinese National Knowledge Infrastructure(CNKI)databases were searched for eligible studies(until May 5,2020)on the association between GABRG2 rs211037 polymorphism and IGE.The odds ratios were calculated using a fixed or random model in STATA 15.0 software.Subgroup analyses for ethnicity,age,source of controls,type of seizure syndrome and therapeutic responses were conducted.Results:We found no significant associations between GABRG2 rs211037 polymorphism and the susceptibility to IGEs.In addition,no significant association was detected between GABRG2 rs211037 polymorphism and drug resistance in IGE patients.The results did not change after stratification by Asian population,healthy controls,children,juvenile myoclonic epilepsy,and childhood absence epilepsy.Conclusion:The current studies indicated that the GABRG2 rs211037 polymorphism was not related to susceptibility or drug resistance of IGE.Further well-designed studies are needed to verify the results.