青少年肌阵挛性癫痫的研究动态

青少年肌阵挛性癫痫(juvenile myoclonic epilepsy,JME)是一种特发性全身性癫痫综合征,以肌阵挛发作为突出表现.Herpin于1867年首次描述了1个JME病例,该病例为一13岁的男孩,开始表现为上身抽搐,3个月后进展为"完全的癫痫发作".     

31例青少年肌阵挛性癫痫临床表现脑电图特点及误诊分析

目的 回顾性分析31例青少年肌阵挛性癫痫(JME)患者的临床、脑电图特点及误诊原因.方法 收集2008年9月～2011年1月在我院癫痫诊治中心诊治的31例JME患者,对其临床表现、脑电图改变及药物治疗疗效进行总结性分析.结果 31例患者表现单纯肌阵挛发作者12例;肌阵挛伴全身强直-阵挛发作者15例;肌阵挛伴失神发作者4例.长程录像脑电图检查,24例患者于监测过程中出现肌阵挛发作,脑电见与发作同步的对称性、泛化性多棘慢波、棘慢波爆发.既往就诊中诊断为全身强直-阵挛发作者17例,抽动症者8例,部分性发作者4例,正常者2例.依据发作类型给予治疗后肌阵挛症状1w内消失者13人;2w内消失者11人;1个月内消失者6人,每月内均有3～4次肌阵挛发作者1人.继发的全身强直-阵挛性发作,半年内消失者20例;1年内消失者11例.结论 青少年肌阵挛性癫痫,以短暂的、无节律性、不规则的肌阵挛抽动为特点,由于症状不典型容易造成误诊,长程录像脑电图检查,附加闪光刺激、睡眠剥夺等诱发试验,提高阳性诊断率,对症治疗效果好.     

青少年肌阵挛性癫癎临床特点分析

青少年肌阵挛性癫癎（juvenile myoclonic epilepsy,JME）是一种常见的特发性全身性癫癎综合征,以肌阵挛发作为突出临床表现,约占全部癫癎患者的5%～10%.我们回顾性分析1995-2005年经我院确诊的87例JME患者临床和脑电图资料,报道如下。     

青少年肌阵挛失神性癫痫（附14例临床分析）

青少年肌阵挛失神性癫痫（附１４例临床分析）张丹红周祥琴青少年肌阵挛失神性癫痫国外有较多的研究，但国内报道尚少。我们自１９９０年２月以来共收治１４例，现报告如下。临床资料一、一般资料：本组男８例，女６例，年龄７～３２岁，平均１８．６±５．４岁，发作年龄...     

良性成人家族性肌阵挛癫痫三家系临床特点分析

对三个良性家族性肌阵挛癫痫(BAFME)家系中的31例存活患者的临床资料进行回顾性分析.31例患者年龄为16-83岁,平均45.9岁.家系一发病年龄为14～46岁,家系二为15～39岁,家系三为31～50岁.男女发病率无明显差异.所有患者均以皮质震颤、肌阵挛伴或不伴癫痫发作为主要临床表现.28例存活者行脑电图检查,21例显示异常,主要表现为多棘波或棘慢、尖慢复合波的出现.25例存活者行体感诱发电位检查,21例可见巨大电位.丙戊酸钠能有效控制患者的肌阵挛或全身强直-阵挛发作.     

儿童肌阵挛失神癫痫脑电图五例

目的 总结儿童肌阵挛失神癫痫(MAE)的临床表现,视频脑电图(VEEG)特征,治疗方案及预后转归等特点。方法 分析2010年1月至2019年12月于首都医科大学宣武医院收治的5例MAE患儿的临床资料和特点。结果 5例患儿中2例男孩,3例女孩。发病年龄中位数9 (3～11)岁。临床表现中5例患者均以MA为突出表现,其中4例为双上肢节律性肌阵挛抽动,另1例为口轮匝肌及双上肢同时受累。发作具有突发突止的特点且发作频繁,每日可发作数次至10余次。住院期间所有患儿均进行VEEG检查,记录到5例患儿均存在典型的双侧对称同步的3Hz棘慢复合波阵发,同步肌电记录到与肌阵挛有锁时关系的肌电爆发。5例患儿在诊断明确后进行抗癫痫治疗,所有患儿均在治疗后癫痫发作频率减少,随访2～6年,5例患儿均无临床发作,智力运动发育正常,EEG复查均无癫痫样异常放电。结论 MAE以肌阵挛失神为突出表现,EEG特点为双侧对称同步的3Hz棘慢复合波阵发,同步肌电图记录到与肌阵挛有锁时关系的肌电爆发。尽早合理的应用抗癫痫药物可有效的控制患儿发作,改善预后。     

肌阵挛性小脑协调障碍一例报告及文献复习

患者女,32岁,因"四肢抖动5年,发作性四肢抽搐伴青语障碍1年"于2008年6月30号入上海交通大学医学院附属仁济医院神经内科诊治.患者于5年前无明显诱因出现四肢不对称、急速、短时的不自主抽动,常因体位改变、做精细动作、声光刺激、睡眠差、情绪改变时诱发或加剧,曾在外院诊治,服用中药及抗免疫药物(具体不详)无好转.     

Low dose sodium valproate in the treatment of juvenile myoclonic epilepsy

Fourteen patients with juvenile myoclonic epilepsy (JME) were treated with a single low dose of a sustained-release preparation of sodium valproate (VPA, 500 mg daily). The mean age of the onset of the low dose treatment was 19.2 years (range 14–26). Before this treatment, six patients had been treated with high dose VPA for a period of more than 2 years, three patients for 1 to 2 years, three patients less than 1 year and two patients initiated the treatment from the begining with a low dose. The mean duration of low dose treatment is 35.6 months (range 25–59 months). (All patients are still under medication). Generalized tonic-clonic and absence seizures were controlled in all patients. Myoclonic jerks relapsed only in one patient, a young mother who was looking after her newly born baby and was deprived of sleep. No adverse reactions have been reported. We suggest that JME patients can effectively be treated with single low VPA dose (500 mg daily), while at the same time seizure precipitating factors, such as sleep deprivation and alcohol ingestion, should be avoided. Received: 26 January 2001, Received in revised form: 30 July 2001, Accepted: 3 August 2001     

Phenotypic analysis of juvenile myoclonic epilepsy in Indian families

OBJECTIVES: Phenotypic analysis of juvenile myoclonic epilepsy (JME) is presented to document the variations in disease expression. MATERIAL AND METHODS: Information on seizure type and frequency, seizure precipitating factors, electro-encephalographic (EEG) data, response to antiepileptic drugs (AEDs) and family history was collected on 500 Indian probands and 61 relatives with JME. RESULTS: The overall clinical features, EEG characteristics, and familial occurrence were similar to other reports. JME probands and relatives having absences (56 of 561, 10%), those with only myoclonic jerks (MJ) or MJ with one generalized tonic clonic seizure (GTCS) in remission without treatment (five of 561, 1%) and those who required valproic acid (VPA) and another AED for seizure control (19 of 561, 3%) are examples of differential disease expression within JME. Seizures among those having photoparoxysmal response (PPR) on EEG responded very well to VPA alone while those with all three seizure types (MJ, GTCS and absences) were poor responders. CONCLUSIONS: Recognition of clinical 'subtypes' among JME could have therapeutic implications and help improve JME phenotypic characterization for molecular studies.     

Reflex writing seizures in two siblings with juvenile myoclonic epilepsy

We report on two siblings who presented with juvenile myoclonic epilepsy, and in whom myoclonic jerks of the right arm and hand were also triggered by writing tasks. Both patients underwent intensive video-electroencephalography monitoring, with simultaneous neuropsychological tests. In both patients, reflex epileptic myoclonus was more easily triggered by writing that required a higher degree of concentration. Conversely, other cognitive tasks, such as reading, typing, thinking, or calculation never elicited any seizures or myoclonus. Valproate was effective in controlling both spontaneous and reflex epileptic seizures. The results of this study further support the notion that 'praxis-induced' reflex epilepsy precipitated by specific stimuli occurs in the context of idiopathic generalized epilepsy. Our results also illustrate that writing tasks are more effective in eliciting seizures when they require higher levels of concentration and mental elaboration.     

Hirayama disease with juvenile myoclonic epilepsy: A case report

Hirayama disease (HD) is rare, but benign anterior horn cell disease, predominantly affecting young men. One of the symptoms, besides weakness, is abnormal movement in the hand. Juvenile myoclonic epilepsy (JME) is one of the most common types of generalized epilepsies and can be recognized by a myoclonic jerk and electroencephalography (EEG) features. We report the case of a 19-year-old male who had HD, with unilateral abnormal movement in the hand, which was diagnosed as JME. We should consider performing an EEG in patients with HD, who present with atypical hand movements, in order to differentiate it from seizure.     

Clinical genetic study in juvenile myoclonic epilepsy

PurposeTo evaluate clinical features of probands with juvenile myoclonic epilepsy (JME) and affected members of their families in order to study clinical genetics of JME.MethodThirteen unrelated families with at least two members with history of seizures were identified; clinical and genealogic data were collected from JME probands and family members.ResultsAll probands had myoclonic and generalized tonic–clonic seizures (GTCS), while absences occurred in 25% of them. The average age of seizure onset was 13 years. Totally 22 members from 13 families had history of seizures with average age of seizure onset at 18 years. Ten family members had JME, three had epilepsy with GTCS, two had juvenile absence epilepsy, one had adult onset myoclonic epilepsy and six of the affected individuals had unclassified type of epilepsy. In five families, JME was the solely clinical feature. JME dominated among siblings, while phenotypic heterogeneity was observed in second and third degree relatives. In three multi-generation families, members with adult onset genetic generalized epilepsies (GGE) were identified.ConclusionWe found phenotypic heterogeneity regarding epilepsy type and age of seizure onset. Using pedigree analysis, we found no evidence for preferential maternal or any other distinctive inheritance pattern. Further study is needed to confirm and clarify the results.     

Motor responses to afferent stimulation in juvenile myoclonic epilepsy

PURPOSE: To document whether the mechanisms responsible for myoclonic jerks in juvenile myoclonic epilepsy (JME) are similar to those causing other forms of myoclonus. METHODS: We studied somatosensory evoked potentials, the conditioning effect of cutaneous afferents on motor potentials evoked by transcranial magnetic stimulation (TMS), and intracortical inhibition and facilitation in response to paired TMS in a group of nine patients with JME and 20 normal controls. RESULTS: Intracortical inhibition was abnormal, whereas cortical somatosensory evoked potentials and TMS conditioned by cutaneous afferents were unaltered in JME patients. CONCLUSIONS: Abnormal processing of cutaneous afferents would not appear to contribute to myoclonus in JME.     

青少年肌阵挛性癫(癎)的临床特点及误诊原因分析

目的研究青少年肌阵挛性癫痫（JME）的临床特点及导致误诊的主要原因。方法对61例JME患者的临床和脑电图（EEG）资料进行回顾性分析。结果肌阵孪是最常见的首发症状，其次为肌阵挛加全身强直一阵孪发作（GTCS）。导致误诊最常见的原因是医师对肌阵挛发作缺乏认识，其次是临床和EEG的非对称性表现。结论JME的正确诊断依赖于医师对此综合征的深刻了解，EEG只能作为辅助诊断工具。     

Treatment of juvenile myoclonic epilepsy

Drug treatment of juvenile myoclonic epilepsy (JME) is mainly based on clinical experience and prospective and retrospective studies, with little evidence from randomized clinical trials. There are almost no head-to-head comparisons between old and new antiepileptic drugs (AEDs). Valproate is the drug of the first choice in men with JME. In women, lamotrigine (LTG) should be preferred regarding teratogenicity and side effects of valproate. Levetiracetam (LEV) is also effective. Recent data suggest that it may soon be used as first line treatment. Some AEDs can aggravate JME. In addition to AEDs, nonpharmacological treatments are important in JME. JME usually requires lifelong treatment because seizures nearly always return after withdrawal of therapy.