To quantify the ictal subdural electroencephalogram (EEG)- changes using spectral analysis, and to delineate the quantitatively defined ictal onset zones on high- resolution 3D MR images in children with intractable n...To quantify the ictal subdural electroencephalogram (EEG)- changes using spectral analysis, and to delineate the quantitatively defined ictal onset zones on high- resolution 3D MR images in children with intractable neocortical epilepsy. Fourteen children with intractable neocortical epilepsy (age: 1- 16 years) who had subsequent resective surgery were retrospectively studied. The subjects underwent a high- resolution MRI and prolonged subdural EEG recording. Spectral analysis was applied to 3 habitual focal seizures. After fast Fourier transformation of the EEG epoch at ictal onset, an amplitude spectral curve (square root of the power spectral curve) was created for each electrode. The EEG magnitude of ictal rhythmic discharges was defined as the area under the amplitude spectral curve within a preset frequency band including the ictal discharge frequency, and calculated for each electrode. The topography mapping of ictal EEG magnitude was subsequently displayed on a surface- rendered MRI. Finally, receiver operating characteristic (ROC) analysis was performed to evaluate the consistency between quantitatively and visually defined ictal onset zones. The electrode showing the maximum of the averaged ictal EEG magnitude was part of the visually defined ictal onset zone in all cases. ROC analyses demonstrated that electrodes showing >30% of the maximum of the averaged ictal EEG magnitude had a specificity of 0.90 and a sensitivity of 0.74 for the concordance with visually defined ictal onset zones. Quantitative ictal subdural EEG analysis using spectral analysis may supplement conventional visual inspection in children with neocortical epilepsy by providing an objective definition of the onset zone and its simple visualization on the patient’ s MRI.展开更多
We report a 36-year-old woman with the occurrence of painful focal seizures of her left hand and the left leg. She also had focal motor seizures at the left corner of her mouth. The duration and frequency of the episo...We report a 36-year-old woman with the occurrence of painful focal seizures of her left hand and the left leg. She also had focal motor seizures at the left corner of her mouth. The duration and frequency of the episodes increased over four days from a few seconds once a day to frequent intervals lasting more than four hours at a time. The symptoms appeared one day after start of the treatment with fluvastatin (40 mg) administered in order to diminish the endothelial activation induced by antiphospholipid antibo dies (aPL). The patient suffered from severe manifestations of the antiphospholi pid syndrome (APS)including Catastrophic Antiphospholipid Syndrome (CAPS, Ashers on’s syndrome). In this case a single 40 mg dose of oral fluvastatin was linked to seizures. After discontinuation of this treatment, the seizures immediately disappeared and the patient fully recovered without evidence of permanent neurol ogical damage. This data links statins to seizures in patients with compromised blood brain barrier such as APS.展开更多
目的探讨K C N T 1基因变异相关婴儿癫痫伴游走性局灶性发作(EIMFS)的临床特征及基因变异特点。方法回顾分析3例K C N T 1基因变异相关EIMFS患儿的临床资料,并复习相关文献。结果2例女性患儿分别于3、6月龄起病,1例男性患儿于2月龄起病...目的探讨K C N T 1基因变异相关婴儿癫痫伴游走性局灶性发作(EIMFS)的临床特征及基因变异特点。方法回顾分析3例K C N T 1基因变异相关EIMFS患儿的临床资料,并复习相关文献。结果2例女性患儿分别于3、6月龄起病,1例男性患儿于2月龄起病。3例均以抽搐起病,经基因检测证实为KCNT 1基因新发错义变异,分别为c.862 G>A(p.Gly 288 Ser)、c.2813 A>G(p.Tyr 938 Cys)及c.1283 G>A(p.Arg 428 Gln)。1例患儿头颅磁共振示髓鞘化延迟,胼胝体膝部薄;2例视频脑电图示局灶性癫痫持续状态,其中1例伴高度失律。3例均予多种抗癫痫药物治疗,2例予激素治疗,发作仍不能有效控制,并出现运动发育落后。结论KCNT 1可能是EIMFS主要致病基因,导致癫痫起病年龄早,常合并发育迟缓,多种抗癫痫药物及激素治疗效果欠佳,预后差。展开更多
回顾性分析2例婴儿癫痫伴游走性局灶性发作(epilepsy of infancy with migrating focal seizures,EIMFS)患儿,分析其临床、头颅影像学及视频脑电图特点,采用二代测序癫痫基因检测包分析EIMFS的基因突变筛查结果,总结2例KCNT1基因突变致E...回顾性分析2例婴儿癫痫伴游走性局灶性发作(epilepsy of infancy with migrating focal seizures,EIMFS)患儿,分析其临床、头颅影像学及视频脑电图特点,采用二代测序癫痫基因检测包分析EIMFS的基因突变筛查结果,总结2例KCNT1基因突变致EIMFS的临床特点及基因特征。2例EIMFS患儿,均为男性,发作起病年龄为均在3个月内,2例均以游走性局灶性发作为主要发作类型,伴自主神经性发作。2例患儿均有频繁癫痫持续状态发生。视频脑电图特点:背景活动慢;发作间期主要表现为大量多灶性放电。头颅磁共振成像(magnetic resonance imaging,MRI)检查均伴异常。基因检测结果:1例为KCNT1基因c.862G>A(p.G288S)杂合突变,来源于母亲,1例为新发突变,c.1283G>A(p.R428Q);2例均应用多种抗癫痫药治疗,1例应用丙种球蛋白针治疗,效果欠佳。EIMFS起病年龄早,发作类型均以游走性局灶性发作为主;多种抗癫痫药物治疗效果差。视频脑电图特征为发作间期大量多灶性放电,发作期为游走性多灶性放电。遗传性因素为该病主要病因,基因检测可协助诊断及指导遗传咨询,KCNT1基因突变为该病热点突变之一。展开更多
The authors assessed whether magnetoencephalography/magnetic source imaging (MEG/MSI) identified epileptogenic zones in patients with tuberous sclerosis complex (TSC). In six TSC children with focal seizures, ictal vi...The authors assessed whether magnetoencephalography/magnetic source imaging (MEG/MSI) identified epileptogenic zones in patients with tuberous sclerosis complex (TSC). In six TSC children with focal seizures, ictal video-EEG predicted the region of resection with 56%sensitivity, 80%specificity, and 77%accuracy (p = 0.02), whereas interictal MEG/MSI fared better (100%, 94%, and 95%, respectively; p < 0.0001). Interictal MEG/MSI seems to identify epileptogenic zones more accurately in children with TSC and focal intractable epilepsy.展开更多
文摘To quantify the ictal subdural electroencephalogram (EEG)- changes using spectral analysis, and to delineate the quantitatively defined ictal onset zones on high- resolution 3D MR images in children with intractable neocortical epilepsy. Fourteen children with intractable neocortical epilepsy (age: 1- 16 years) who had subsequent resective surgery were retrospectively studied. The subjects underwent a high- resolution MRI and prolonged subdural EEG recording. Spectral analysis was applied to 3 habitual focal seizures. After fast Fourier transformation of the EEG epoch at ictal onset, an amplitude spectral curve (square root of the power spectral curve) was created for each electrode. The EEG magnitude of ictal rhythmic discharges was defined as the area under the amplitude spectral curve within a preset frequency band including the ictal discharge frequency, and calculated for each electrode. The topography mapping of ictal EEG magnitude was subsequently displayed on a surface- rendered MRI. Finally, receiver operating characteristic (ROC) analysis was performed to evaluate the consistency between quantitatively and visually defined ictal onset zones. The electrode showing the maximum of the averaged ictal EEG magnitude was part of the visually defined ictal onset zone in all cases. ROC analyses demonstrated that electrodes showing >30% of the maximum of the averaged ictal EEG magnitude had a specificity of 0.90 and a sensitivity of 0.74 for the concordance with visually defined ictal onset zones. Quantitative ictal subdural EEG analysis using spectral analysis may supplement conventional visual inspection in children with neocortical epilepsy by providing an objective definition of the onset zone and its simple visualization on the patient’ s MRI.
文摘We report a 36-year-old woman with the occurrence of painful focal seizures of her left hand and the left leg. She also had focal motor seizures at the left corner of her mouth. The duration and frequency of the episodes increased over four days from a few seconds once a day to frequent intervals lasting more than four hours at a time. The symptoms appeared one day after start of the treatment with fluvastatin (40 mg) administered in order to diminish the endothelial activation induced by antiphospholipid antibo dies (aPL). The patient suffered from severe manifestations of the antiphospholi pid syndrome (APS)including Catastrophic Antiphospholipid Syndrome (CAPS, Ashers on’s syndrome). In this case a single 40 mg dose of oral fluvastatin was linked to seizures. After discontinuation of this treatment, the seizures immediately disappeared and the patient fully recovered without evidence of permanent neurol ogical damage. This data links statins to seizures in patients with compromised blood brain barrier such as APS.
文摘目的探讨K C N T 1基因变异相关婴儿癫痫伴游走性局灶性发作(EIMFS)的临床特征及基因变异特点。方法回顾分析3例K C N T 1基因变异相关EIMFS患儿的临床资料,并复习相关文献。结果2例女性患儿分别于3、6月龄起病,1例男性患儿于2月龄起病。3例均以抽搐起病,经基因检测证实为KCNT 1基因新发错义变异,分别为c.862 G>A(p.Gly 288 Ser)、c.2813 A>G(p.Tyr 938 Cys)及c.1283 G>A(p.Arg 428 Gln)。1例患儿头颅磁共振示髓鞘化延迟,胼胝体膝部薄;2例视频脑电图示局灶性癫痫持续状态,其中1例伴高度失律。3例均予多种抗癫痫药物治疗,2例予激素治疗,发作仍不能有效控制,并出现运动发育落后。结论KCNT 1可能是EIMFS主要致病基因,导致癫痫起病年龄早,常合并发育迟缓,多种抗癫痫药物及激素治疗效果欠佳,预后差。
文摘回顾性分析2例婴儿癫痫伴游走性局灶性发作(epilepsy of infancy with migrating focal seizures,EIMFS)患儿,分析其临床、头颅影像学及视频脑电图特点,采用二代测序癫痫基因检测包分析EIMFS的基因突变筛查结果,总结2例KCNT1基因突变致EIMFS的临床特点及基因特征。2例EIMFS患儿,均为男性,发作起病年龄为均在3个月内,2例均以游走性局灶性发作为主要发作类型,伴自主神经性发作。2例患儿均有频繁癫痫持续状态发生。视频脑电图特点:背景活动慢;发作间期主要表现为大量多灶性放电。头颅磁共振成像(magnetic resonance imaging,MRI)检查均伴异常。基因检测结果:1例为KCNT1基因c.862G>A(p.G288S)杂合突变,来源于母亲,1例为新发突变,c.1283G>A(p.R428Q);2例均应用多种抗癫痫药治疗,1例应用丙种球蛋白针治疗,效果欠佳。EIMFS起病年龄早,发作类型均以游走性局灶性发作为主;多种抗癫痫药物治疗效果差。视频脑电图特征为发作间期大量多灶性放电,发作期为游走性多灶性放电。遗传性因素为该病主要病因,基因检测可协助诊断及指导遗传咨询,KCNT1基因突变为该病热点突变之一。
文摘The authors assessed whether magnetoencephalography/magnetic source imaging (MEG/MSI) identified epileptogenic zones in patients with tuberous sclerosis complex (TSC). In six TSC children with focal seizures, ictal video-EEG predicted the region of resection with 56%sensitivity, 80%specificity, and 77%accuracy (p = 0.02), whereas interictal MEG/MSI fared better (100%, 94%, and 95%, respectively; p < 0.0001). Interictal MEG/MSI seems to identify epileptogenic zones more accurately in children with TSC and focal intractable epilepsy.
