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
Description： The progressive myoclonus epilepsies （PME＇s） comprise a large group of genetically determined disorders characterized by myoclonus, generalized tonic-clonic seizures, cerebellar dysfunction and variab...Description： The progressive myoclonus epilepsies （PME＇s） comprise a large group of genetically determined disorders characterized by myoclonus, generalized tonic-clonic seizures, cerebellar dysfunction and variable degrees of cognitive impairment.展开更多
Objective To investigate the difference in interictal perfusion patterns between refractory and non-refractory temporal lobe epilepsies evaluated with flow-sensitive alternating inversion recovery (FAIR) magnetic reso...Objective To investigate the difference in interictal perfusion patterns between refractory and non-refractory temporal lobe epilepsies evaluated with flow-sensitive alternating inversion recovery (FAIR) magnetic resonance (MR) sequence. Methods Nine patients with refractory temporal lobe epilepsy, 21 patients with non-refractory temporal lobe epilepsy, and 13 normal volunteers underwent FAIR MR scanning. The relative cerebral blood flow (rCBF) in bilateral hemispheres and mesial temporal lobes were measured. And we also calculated the asymmetry index (AI) values. Results The AI values of bilateral hemispheres in refractory and non-refractory epilepsy patients were both significantly different from those of volunteers (P=0.012 and 0.029, respectively). There was significant difference in AI values of bilateral mesial temporal lobes between non-refractory epilepsy patients and volunteers (P=0.049), while no significant difference between refractory epilepsy patients and volunteers. Conclusions The hypoperfusion pattern of interictal refractory temporal lobe epilepsy patients is different from that of non-refractory patients. Although the hypoperfusion tends to extend out of temporal lobes in all patients, the refractory epilepsy patients have a preference of bilateral mesial temporal hypoperfusion, which may be valuable for evaluating prognosis.展开更多
The multiple PDZ domain crumbs cell polarity complex component gene(MPDZ;MIM:603785),is highly expressed in the brain across the whole lifespan.It encodes the multiple PDZ domain protein,which is a member of the NMDAR...The multiple PDZ domain crumbs cell polarity complex component gene(MPDZ;MIM:603785),is highly expressed in the brain across the whole lifespan.It encodes the multiple PDZ domain protein,which is a member of the NMDAR signaling complex that may play a role in the control of AMPAR potentiation and synaptic plasticity in excitatory synapses."Previously,MPDZ variants have been demonstrated to be associated with autosomal recessive congenital hydrocephalus-2(HYC2;MIM:615219)which is commonly complicated by brain abnormalities and developmental delay.Seizures were reported in only one case.The association between MPDz and epilepsy requires clarification.展开更多
The genetic generalized epilepsies(GGEs)have been proved to generate from genetic impact by twin studies and family studies.The genetic mechanisms of generalized epilepsies are always updating over time.Although the g...The genetic generalized epilepsies(GGEs)have been proved to generate from genetic impact by twin studies and family studies.The genetic mechanisms of generalized epilepsies are always updating over time.Although the genetics of GGE is complex,there are always new susceptibility genes coming up as well as copy number variations which can lead to important breakthroughs in exploring the problem.At the same time,the development of ClinGen fades out some of the candidate genes.This means we have to fgure out what accounts for a reliable gene for GGE,in another word,which gene has sufcient evidence for GGE.This will improve our understanding of the genetic mechanisms of GGE.In this review,important up-to-date genetic mechanisms of GGE were discussed.展开更多
目的探讨局灶性癫痫围发作期心率变异性变化特点。方法收集2014年9月至2019年9月在首都医科大学附属北京天坛医院癫痫中心进行术前评估并完成手术的癫痫患者102例,选择局灶性发作198次,手动测量相邻两个心电活动的RR间期,计算心率变异...目的探讨局灶性癫痫围发作期心率变异性变化特点。方法收集2014年9月至2019年9月在首都医科大学附属北京天坛医院癫痫中心进行术前评估并完成手术的癫痫患者102例,选择局灶性发作198次,手动测量相邻两个心电活动的RR间期,计算心率变异性时域参数-相邻正常心跳间期差值平方和的均方根(RMSSD),比较发作前60 s、发作期、终止后60 s RMSSD差异,并比较不同心率变化类型、不同发作类型、不同发作前状态以及不同致痫灶部位和侧别RMSSD差异。结果发作期和发作前60 s及终止后60 s RMSSD相比差异有统计学意义(P<0.001),提示发作期RMSSD降低;心率增快类型癫痫发作期RMSSD降低(P<0.001);复杂部分性癫痫发作期RMSSD降低(P<0.001);颞叶内侧癫痫发作期RMSSD降低(右颞叶内侧P<0.001;左颞叶内侧P<0.001);心率无变化(P=0.556)和心率减慢(P=0.983)类型癫痫发作、单纯部分性癫痫(P=0.869)、颞叶外侧癫痫(右颞叶外侧P=0.204;左颞叶外侧P=0.849)和颞叶外癫痫(右颞外P=0.188;左颞外P=0.068)发作期RMSSD无降低。发作期和发作前60 s RMSSD差值在睡眠期更明显(P=0.039)。结论心率增快类型癫痫发作、复杂部分性癫痫、颞叶内侧癫痫发作期易发生心率变异性下降,提示癫痫发作期副交感活性下降;睡眠期状态下发生的癫痫发作期心率变异性下降相比清醒期显著,提示睡眠期癫痫发作副交感活性下降更加明显。展开更多
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Description： The progressive myoclonus epilepsies （PME＇s） comprise a large group of genetically determined disorders characterized by myoclonus, generalized tonic-clonic seizures, cerebellar dysfunction and variable degrees of cognitive impairment.
文摘Objective To investigate the difference in interictal perfusion patterns between refractory and non-refractory temporal lobe epilepsies evaluated with flow-sensitive alternating inversion recovery (FAIR) magnetic resonance (MR) sequence. Methods Nine patients with refractory temporal lobe epilepsy, 21 patients with non-refractory temporal lobe epilepsy, and 13 normal volunteers underwent FAIR MR scanning. The relative cerebral blood flow (rCBF) in bilateral hemispheres and mesial temporal lobes were measured. And we also calculated the asymmetry index (AI) values. Results The AI values of bilateral hemispheres in refractory and non-refractory epilepsy patients were both significantly different from those of volunteers (P=0.012 and 0.029, respectively). There was significant difference in AI values of bilateral mesial temporal lobes between non-refractory epilepsy patients and volunteers (P=0.049), while no significant difference between refractory epilepsy patients and volunteers. Conclusions The hypoperfusion pattern of interictal refractory temporal lobe epilepsy patients is different from that of non-refractory patients. Although the hypoperfusion tends to extend out of temporal lobes in all patients, the refractory epilepsy patients have a preference of bilateral mesial temporal hypoperfusion, which may be valuable for evaluating prognosis.
基金funded by the National Natural Science Foundation of China(No.82201609)Shandong Medical and Health Science and Technology Development Plan(China)(No.202106010271)+2 种基金Scientific Research Project of Hunan Provincial Health Commission(China)(No.D202303077290)Guangdong Basic and Applied Basic Research Foundation(China)(No.2021A1515111064)Science and Technology Project of Guangzhou,Guangdong,China(No.202102021059,202201020106,202235395).
文摘The multiple PDZ domain crumbs cell polarity complex component gene(MPDZ;MIM:603785),is highly expressed in the brain across the whole lifespan.It encodes the multiple PDZ domain protein,which is a member of the NMDAR signaling complex that may play a role in the control of AMPAR potentiation and synaptic plasticity in excitatory synapses."Previously,MPDZ variants have been demonstrated to be associated with autosomal recessive congenital hydrocephalus-2(HYC2;MIM:615219)which is commonly complicated by brain abnormalities and developmental delay.Seizures were reported in only one case.The association between MPDz and epilepsy requires clarification.
基金Funding This work was supported by the National Natural Science Foundation of China(No.82071686)the Grant from Science and Technology Bureau of Sichuan province(No.2021YFS0093)+1 种基金the Grant from Research Fund of West China Second University Hospital(No.KL115,KL072)Graduate Education and Teaching Reform research project of Sichuan University(GSSCU2021156).
文摘The genetic generalized epilepsies(GGEs)have been proved to generate from genetic impact by twin studies and family studies.The genetic mechanisms of generalized epilepsies are always updating over time.Although the genetics of GGE is complex,there are always new susceptibility genes coming up as well as copy number variations which can lead to important breakthroughs in exploring the problem.At the same time,the development of ClinGen fades out some of the candidate genes.This means we have to fgure out what accounts for a reliable gene for GGE,in another word,which gene has sufcient evidence for GGE.This will improve our understanding of the genetic mechanisms of GGE.In this review,important up-to-date genetic mechanisms of GGE were discussed.
文摘目的探讨局灶性癫痫围发作期心率变异性变化特点。方法收集2014年9月至2019年9月在首都医科大学附属北京天坛医院癫痫中心进行术前评估并完成手术的癫痫患者102例,选择局灶性发作198次,手动测量相邻两个心电活动的RR间期,计算心率变异性时域参数-相邻正常心跳间期差值平方和的均方根(RMSSD),比较发作前60 s、发作期、终止后60 s RMSSD差异,并比较不同心率变化类型、不同发作类型、不同发作前状态以及不同致痫灶部位和侧别RMSSD差异。结果发作期和发作前60 s及终止后60 s RMSSD相比差异有统计学意义(P<0.001),提示发作期RMSSD降低;心率增快类型癫痫发作期RMSSD降低(P<0.001);复杂部分性癫痫发作期RMSSD降低(P<0.001);颞叶内侧癫痫发作期RMSSD降低(右颞叶内侧P<0.001;左颞叶内侧P<0.001);心率无变化(P=0.556)和心率减慢(P=0.983)类型癫痫发作、单纯部分性癫痫(P=0.869)、颞叶外侧癫痫(右颞叶外侧P=0.204;左颞叶外侧P=0.849)和颞叶外癫痫(右颞外P=0.188;左颞外P=0.068)发作期RMSSD无降低。发作期和发作前60 s RMSSD差值在睡眠期更明显(P=0.039)。结论心率增快类型癫痫发作、复杂部分性癫痫、颞叶内侧癫痫发作期易发生心率变异性下降,提示癫痫发作期副交感活性下降;睡眠期状态下发生的癫痫发作期心率变异性下降相比清醒期显著,提示睡眠期癫痫发作副交感活性下降更加明显。
