67例青少年肌阵挛临床与VEEG的局灶性特征分析

目的总结青少年肌阵挛癫痫(juvenile myoclonic epilepsy,JME)的临床与VEEG的局灶性特征。方法回顾性分析厦门大学附属中山医院就诊的67例JME患者临床症状与24小时长程视频脑电图的局灶性特征。结果 67例患者中,11.94%的肌阵挛发作(MJ)存在一侧或不对称肌阵挛抽动,13.11%的全面强直-阵挛发作(CTCS)出现不对称体征;24 h VEEG监测到的发作中,46.80%的MJ及66.67%的GTCS出现不对称或及局灶症状;发作间期的不对称及局灶性EEG占44.7%。局灶性EEG的棘波、棘慢波最常出现在额区。31例患者服药后复查VEEG,不对称及局灶EEG比例增加至64.52%。结论 JME有高度的临床异质性,临床医生应警惕其临床及EEG的局灶性特征,避免误诊。     

青少年肌阵挛性癲痫20例临床特点分析

目的 研究青少年肌阵挛性癫痫患者(juvenile myoclonic epilepsy,JME)的临床及脑电图特点,探讨JME诊断要点.方法 回顾性分析在宣武医院癫痫门诊就诊的20例JME患者,总结其一般特点、发作类型及脑电图特点.结果 20例患者均有肌阵挛发作,部分合并全面强直一阵挛发作或典型失神发作.16例患者的脑电图可见全导爆发出现的棘慢波或多棘慢波,其中4例合并局灶性的异常.导致漏诊的最主要因素是肌阵挛发作的病史询问欠详.结论 JME的正确诊断主要依据其临床特点,询问肌阵挛发作的病史以得到诊断的关键信息,脑电图只是辅助的诊断工具.     

青少年肌阵挛癫痫和睡眠肌阵挛的比较研究

目的比较分析青少年肌阵挛癫痫(JME)和睡眠肌阵挛(SM)的临床和脑电图(EEG)特点.方法对20例JME患者和25例SM进行分析.结果JME多见于青春期发病,有遗传性,男女无差别,常在清醒时表现为双侧单一或反复的不规则无节律的肌阵挛发作,无意识障碍,可伴全身强直阵挛性发作(GTCS),少有失神,易被剥夺睡眠和闪光诱发,EEG示快而弥漫的不规则棘慢波和多棘慢波复合;SM可见于各年龄组,在入睡不久出现肢体或手指不自主、无规律地抽动一下,双侧不同时出现,发作频率和动作幅度不等,EEG监测在肢体抖动时,亦无异常放电.结论JME是一种遗传性、与年龄相关的以肌阵挛发作为主的癫痫综合征,其预后好;SM是一种无需治疗的生理现象.     

青少年肌阵挛癫痫一例

正青少年肌阵挛癫痫(Juvenile myoclonic epilepsy,JME)是一种常见的年龄相关的特发性全身性癫痫综合征,占所有癫痫的2.8%～11.9%~([1]),占儿童特发性全身性癫痫的20%。JME起病年龄在12岁～18岁之间占76%。其典型发作形式是肌阵挛发作,可合并全面性强直-阵挛发作和失神发作,脑电图(EEG)特征为发作间期广泛性棘慢波或多棘慢波发放。治疗上以口服抗癫痫药物(AEDs)为     

伴有光敏感性的青少年肌阵挛癫痫的电临床研究

目的通过对伴有光敏感性的青少年肌阵挛癫痫(juvenile myoclonic epilepsy,JME)患者的临床及脑电生理进行分析,总结伴有光敏感性的JME的电临床特点。方法将2015年9月～2017年5月在我院行长程视频脑电监测中确诊为伴有光敏感性的JME患者纳入此项研究。结果 42例伴有光敏感性的JME患者纳入此项研究,男∶女比例为0. 4∶1; 81%(34/42)的伴有光敏感性的JME的发作形式为全面性强直-阵挛发作(GTCS)+肌阵挛发作(Mjs);所有患者在合眼状态均出现光敏性反应(PPR),且诱发频率多在8～25 Hz。多数光惊厥反应出现在合眼状态,最常见的发作形式为肌阵挛发作。结论伴有光敏感性的JME患者中,女性具有显著发病优势,Mjs是伴有光敏感性的JME患者主要就诊原因,PPR和光惊厥反应最常出现于合眼状态。     

青少年肌阵挛癫痫18例误诊情况分析

青少年肌阵挛癫痫(juvenile myoclonic epilepsy,JME)是特发性全面性癫痫中最常见的类型,其在癫痫总数所占比例为5%~10%[1],但因临床医生对其特征认识不足而其误诊率相当高,我们将本院神经内科癫痫门诊近年来收治的18例JME患者的就诊及误诊情况分析如下,希望能对临床医生充分认识到这一疾病有所帮助。1资料与方法1.1临床资料对本院神经内科癫痫门诊收治的18例JME患者的临床及EEG情况进行回顾性分析。1.2方法按照国际抗癫痫联盟1981年对癫痫发作的分类与1989年癫痫与癫痫综合征的定义,对18例JME患者进行详细的病史分析,包括首次发作的…     

青少年肌阵挛癫痫存在限局性异常

<正>特发性全面性癫痫(IGE)为一组癫痫综合征具有非局限性起源的机制且除遗传敏感性外无可证实的病因。青少年肌阵挛癫痫(JME)为IGE中最常见的亚综合征~[1,2]。德国Janz于1985年首先描述JME[3],1989年国际抗癫痫联盟(ILAE)正式将JME列为独立的综合征~[3,4]。JME的特点为具有肌阵挛发作,全面强直阵挛发作(GTCs)及少见的失神发作。电生理表现为双侧半球异常,神经影像学无异常~[5]。JME肌阵挛发作的特点为以双侧上肢为主,多发生于     

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。     

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.     

成年期确诊的青少年肌阵挛性癫痫的临床特点

目的分析成年期确诊的青少年肌阵挛性癫痫(JME)的临床特点。方法对75例成年期确诊的JME患者进行回顾性分析。结果 75例患者43例有误诊经历,最长误诊时间达26年。75例患者均有肌阵挛发作(MJ),其中2例仅有MJ发作,2例合并失神发作(AS),57例合并全面强直-阵挛发作(GTCS),14例三种发作形式均有。EEG检查75例均发现全导广泛性棘慢或多棘慢复合波,23例有局灶性放电。23例既往曾服用卡马西平、奥卡西平、苯妥英钠或拉莫三嗪出现发作增多现象。随访0.5~4年,51例选择丙戊酸钠、托吡酯或左乙拉西坦单药治疗无发作,8例患者选择两种以上药物方能控制,5例停药后复发。结论JME多见于青少年期,步入成年期后误诊率更高。JME临床表现以MJ为主,常伴有GTCS或AS,EEG为弥漫性3.5~5 Hz棘慢波或多棘慢波,部分有局灶性放电。治疗可选择丙戊酸钠、托吡酯或左乙拉西坦,而卡马西平、奥卡西平、苯妥英钠可加重临床发作。JME患者停药后复发率高,推荐患者终身服药。     

Clinical features, EEG findings and diagnostic pitfalls in juvenile myoclonic epilepsy: a series of 63 patients

Juvenile myoclonic epilepsy (JME) is a common idiopathic generalized epileptic syndrome distinctively characterized by myoclonic jerks often associated to generalized tonic-clonic seizures (GTCS) and typical absence seizures. In spite of typical clinical and EEG profiles, JME is widely underdiagnosed. In the present study we retrospectively revised clinical and EEG data of JME patients referring to our Epilepsy Service. A diagnosis of JME could be made in 63 patients, that is 5.7% of all the epileptic patients referring to our Service and 25.9% of those suffering from an idiopathic generalized epilepsy. General features as well as modality of onset and course of the syndrome of our JME subjects were in accordance with literature. Regarding EEG findings, asymmetries were detected in 38.1% of cases. At referral to our Service only 31.7% of JME patients were correctly diagnosed. Main factors responsible for misdiagnosis were failure in eliciting a history of myoclonic jerks and misinterpretation of myoclonic jerks as simple partial seizures. EEG asymmetries were misleading in 13 patients. In conclusion, a correct JME diagnosis is strictly dependent on the knowledge of the syndrome leading the interviewer to look for and correctly interpret myoclonic jerks whereas EEG is just an ancillary diagnostic tool.     

A study of idiopathic generalised epilepsy in an Irish population.

Idiopathic generalised epilepsy (IGE) is subdivided into syndromes based on clinical and EEG features. PURPOSE: The aim of this study was to characterise all cases of IGE with supportive EEG abnormalities in terms of gender differences, seizure types reported, IGE syndromes, family history of epilepsy and EEG findings. We also calculated the limited duration prevalence of IGE in our cohort. METHODS: Data on abnormal EEGs were collected retrospectively from two EEG databases at two tertiary referral centres for neurology. Clinical information was obtained from EEG request forms, standardised EEG questionnaires and medical notes of patients. RESULTS: two hundred twenty-three patients met our inclusion criteria, 89 (39.9%) male and 134 (60.1%) females. Tonic clonic seizures were the most common seizure type reported, 162 (72.65%) having a generalised tonic clonic seizure (GTCS) at some time. IGE with GTCS only (EGTCSA) was the most common syndrome in our cohort being present in 94 patients (34 male, 60 female), with 42 (15 male, 27 female) patients diagnosed with Juvenile myoclonic epilepsy (JME), 23 (9 male, 14 female) with Juvenile absence epilepsy (JAE) and 20 (9 male, 11 female) with childhood absence epilepsy (CAE). EEG studies in all patients showed generalised epileptiform activity. CONCLUSIONS: More women than men were diagnosed with generalised epilepsy. Tonic clonic seizures were the most common seizure type reported. EGTCSA was the most frequent syndrome seen. Gender differences were evident for JAE and JME as previously reported and for EGTCSA, which was not reported to date, and reached statistical significance for EGTCA and JME.     

Clinical and EEG Asymmetries in Juvenile Myoclonic Epilepsy

Summary: We reviewed records of 85 patients with juvenile myoclonic epilepsy (JME) for significant asymmetries in clinical seizures or the EEG. We noted asymmetries in 26 of 85 patients (30.6%). Only 2 patients had both clinical and EEG asymmetries; 12 had clinical asymmetries and 12 had EEG asymmetries exclusively. Analysis of patients with and without asymmetries showed no statistically significant differences in comparisons of sex, age at seizure onset, family history of epilepsy, seizure type, or response to treatment. The delay in diagnosis was greater in JME patients with asymmetries (9.5 years) than in JME patients with no asymmetries (7.5 years), but this difference was not statistically significant. Fourteen of the 26 patients with asymmetries (53.8%) were initially misdiagnosed as having partial seizures. Asymmetries in JME patients are not only common, but are also a frequent cause of misdiagnosis.     

Clinical aspects of juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy (JME) is a recognizable, frequent epileptic syndrome. The most typical ictal phenomenon is bilateral myoclonia without loss of consciousness (M), with most patients also presenting with generalized tonic-clonic seizures (GTCSs) and some with absence seizures (ASs). The most striking features of JME are its onset around the time of puberty and the fact that seizure episodes occur after awakening from a sleep period or in the evening relaxation period and are facilitated by sleep deprivation and sudden arousal. Photic sensitivity is common in the EEG laboratory but uncommon or unrecognized in daily life. The clinical features of JME make it easy to diagnose. In recent years, awareness of JME has increased, and patients are often accurately diagnosed clinically before confirmation by EEG. The typical circumstance at diagnosis is a first GTCS episode, and one learns during the interview that the patient has had M in the morning for some time before the GTCS episode. There are only few differential diagnoses: the adolescent-onset progressive myoclonus epilepsies, or other forms of idiopathic generalized epilepsies of adolescence. With JME being so common, we propose that a first GTCS episode in a teenager should be considered as revealing JME until proven otherwise.This article is part of a supplemental special issue entitled Juvenile Myoclonic Epilepsy: What is it Really?     

Juvenile myoclonic epilepsy: non-classic electroencephalographical presentation in adult patients.

Although diagnosis of juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, is based on clinical and electroencephalogram (EEG) criteria, at times clinical symptoms may be misleading, like the occurrence of asymmetric myoclonic jerks. Thus EEG assumes an important role in these cases, it can fail to show the classical polyspike and slow wave (PSW) discharges of JME, specially in a routine evaluation in older patients. We analyzed retrospectively EEG results of 35 patients with JME [Commission on Classification and Terminology of the International League Against Epilepsy (ILAE) Epilepsia 1989; 30: 389] aged 12-44 years. (mean 22.7 years) at first medical evaluation. EEG findings of 35 patients (19 females, 16 males) with JME consisted of normal tracings in 22.9 and 54.3% had at least one normal exam. EEG abnormalities present in 27 patients (77.1%) consisted of isolated generalized slowing in two and generalized discharges in 25: irregular spike and wave complexes (SWC) in 76%; PSW in 48%; SWC faster than 3 Hz in 20%; spikes, sharp waves, and irregular slow waves in 24%; asymmetric generalized epileptiform discharges in 40%; and associated focal paroxysms in 12%. Thus JME is classically associated to PSW on EEG, the most frequent abnormality was irregular SWC. Generalized paroxysms could occur in an asymmetric fashion and rarely associated to focal activity.     

Juvenile myoclonic epilepsy: a clinical and sleep EEG study.

Juvenile myoclonic epilepsy (JME) is characterized by myoclonic jerks on awakening, generalized tonic--clonic seizures (GTCS) and is associated with absence seizures in more than one third of cases. Fifteen patients with juvenile myoclonic epilepsy were studied with regard to their clinical profile, EEG data and sleep EEG findings. There was a delay in the diagnosis of JME (mean of 3.5 years) due to various reasons. Sleep deprivation was the most common precipitating factor for triggering seizures, followed by fatigue. Routine EEGs were abnormal in 73.33% of cases only and had misleading findings in 6.66%. Sleep EEGs were abnormal in 100% of cases with generalized spikes, polyspikes and slow wave discharges. Discharge rates on sleep EEGs typically increased significantly during the transition phase (i.e. the asleep to awakening stage) and we consider this to be a specific finding in appropriate clinical setting. Sleep EEGs are a more sensitive and specific tool for the diagnosis of JME while routine awake EEGs may miss or mislead.     

Electroencephalographic studies of family members of patients with juvenile myoclonic epilepsy]

Juvenile myoclonic epilepsy (JME) is a common idiopathic generalized epilepsy (IGE); it has a clinical and probably a strong genetic relation to the other IGE forms. Generalized spike/polyspike-wave discharges (SW/PSW) are typical of all IGEs. The aim of our study was to determine the incidence of epilepsy and SW/PSW in EEG of family members of 12 JME patients. 35 first degree relatives aged over 15 years were examined. 40 min EEG with 5 min HV were recorded. IGE was diagnosed in 3 (8.6%) persons: JME in 2 and childhood absence epilepsy (CAE) in 1 person. Six more relatives (17.1%) had typical SW/PSW traits in EEG. Thus the IGE features were found in 9 (25.7%) individuals--members of 7 out of 12 families (58%). EEG of 7 other relatives (20%) revealed non-specific episodic diffuse or focal abnormalities. The above results reveal higher incidence of different kinds of ICEs and typical EEG traits in families of JME patients. This findings confirm familial susceptibility to IGE and may be helpful in genetical counselling.     

Pitfalls in diagnosis of epilepsy of Janz and its implications

84 patients of juvenile myoclonic epilepsy (JME) of Janz were studied. Diagnosis was confirmed using clinical and electro-encephalographic (EEG) criterias. 58 (78%) patients of JME were referred as 'refractory or uncontrolled seizures'. Ignoring myoclonic episodes and non-use of activation procedures in EEG were important reasons for diagnostic delay. Sodium valproate (VPA) or clonazepam are the drugs of choice while phenobarbitone (PB), carbamazepine (CZ), and phenytoin (PHT) are ineffective. Clinical spectrum of JME is slightly different in India. Family history of epilepsy or JME is not forthcoming and there is gross delay in the diagnosis. Other differences include age of presentation and mild cognitive impairment. All juvenile patients of generalized epilepsy, not responding to more commonly used CZ, PB and PHT should be strongly suspected for JME by carefully searching for myoclonus.     

Neuropsychological EEG activation in patients with juvenile myoclonic epilepsy

We studied the effects of higher mental activity on the EEG, i.e., neuropsychological EEG activation (NPA), in patients with juvenile myoclonic epilepsy (JME). Thirty patients with JME underwent a conventional EEG recording and EEG recording during performance of a battery of twelve neuropsychological tasks, which involved decision making, reading, calculations, constructive activities and drawing. Twenty-three JME patients (76.6%) responded (i.e., showed EEG activation) to at least one neuropsychological task (p = 0.003). Four neuropsychological tasks, two involving the use of the hands and two without manual involvement, were associated with a high frequency of EEG activation (40-60% of JME patients), although statistical analysis did not reveal any one test as the most significant for NPA activation. Neuropsychological EEG activation, using a variety of tasks both manual and non-manual, is a useful tool in evaluating patients with JME.