良性家族性婴儿癫痫的临床特点

目的探讨良性家族性婴儿癫痫(BFIE)的临床特点。方法回顾性分析1例PRRT2基因突变和双侧额区放电的BFIE患者的临床资料,并进行文献复习。结果 BFIE主要临床表现为局灶性癫痫发作,PRRT2为主要致病基因。发作间歇期EEG多无异常,局灶性放电部位多为额区。本病预后良好,多数抗癫痫药物对本病有效。结论婴儿期以局灶性癫痫起病,如丛集性发作,且智力、运动发育正常,需结合基因和EEG检查,考虑BFIE可能。     

难治性癫痫持续状态患者的脑电图特征

目的 探究难治性癫痫持续状态(RSE)患者的脑电图(EEG)特征.方法 将60例全面惊厥性癫痫持续状态(GCSE)患者根据抗癫痫药物(AEDs)疗效分为RSE和非难治性癫痫持续状态(NRSE),比较两组患者EEG模式的差异.结果 所有患者中,与NRSE组比较,RSE组患者发作期EEG呈持续性放电比例更高,差异具有统计学意义(OR=5.44,95%CI=1.24~23.96,P=0.04).50例EGG呈间歇性演变的患者中,与NRSE组比较,RSE组患者发作间歇期EEG呈周期性放电与痫样放电的比例较高,差异有统计学意义(OR=29.75,4.12;95%CI=3.19~277.32,1.09~15.58;P<0.05);而RSE组患者发作后EEG为正常模式的比例较低,差异具有统计学意义(OR=0.11,95%CI=0.01~0.91,P=0.04).结论 GCSE患者如EEG出现持续性放电、周期性放电、发作间期痫样放电,应引起临床的高度重视,给以强化抗惊厥治疗.     

家族性颞叶癫痫的临床与脑电图特征分析

目的探讨家族性颞叶癫痫(FTLE)的临床和脑电图(EEG)特点。方法收集6个 FTLE的家系资料,通过详细的调查,建立较完善的家系谱,并对受累者的临床资料、EEG进行分析总结。结果6个家系共78名家族成员,其中受累者20例,每个家系2-6例受累者不等,2代发病居多。发病年龄0．5-27岁,平均(13．7±10．5)岁。平均发作频率(6．7±8．9)次/月。表现为复杂部分性发作13 例次(76．5％),继发全身强直一阵挛性发作12例次(70．6％),单纯部分性发作4例次(23．5％),强直发作和全身强直一阵挛性发作各1例次;无法分类3例。20例受累者中3例出现复杂视幻觉,1例出现听幻觉。受累者中13例进行发作间期EEG检查,仅1例示颞叶局灶痫性放电(7．7％),2例痫性异常放电, 余未见明显异常;10例进行MRI检查,仅1例示右额颞发育异常(10．0％)。18例受累者疗效观察,3例发作自然缓解,另15例接受抗癫痫药物(AEDs)治疗,14例有效(4例发作控制),仅1例无效。结论 FTLE家庭受累者临床症状呈多样性,发作间期EEG大部分未见局灶异常放电,MRI检查未见异常。 FTLE的正确诊断主要依据患者临床发作特征和家系谱,AEDs治疗疗效良好。     

癫痫患儿不同眼状态间断性闪光刺激光敏性特征及脑电图分析

目的研究癫痫患儿不同眼状态间断性闪光刺激(IPS)光敏性特征及EEG分析。方法选取IPS阳性癫痫患儿,分析不同眼状态下IPS光敏性特征及EEG特征。结果 104例患儿中,背景正常101例(97. 1%),背景活动减慢3例(2. 8%)。间期有癫痫放电99例(95. 1%),其中广泛性放电66例(63. 5%)、局灶放电20例(19. 2%)、广泛性+局灶性放电13例(12. 5%)。IPS广泛性放电96例(92. 3%),局灶性放电8例(7. 7%)。合眼+闭眼+睁眼IPS阳性患儿IPS时临床发作率显著高于其余患儿(χ~2=4. 575,P=0. 032)。光敏感程度随刺激频率增加而逐渐增加,当闪光频率在8～25 Hz时IPS阳性数量呈现峰值。间期广泛性放电患儿IPS均为广泛性放电,65. 0%的间期为局灶性放电患儿IPS为广泛性放电;两者差异有统计学意义(χ~2=20. 684,P 0. 001)。结论 IPS阳性多见于特发性全面性癫痫患儿。合眼、睁眼状态下IPS阳性率高于闭眼状态,且8～25 Hz频段时IPS阳性率最高。当三种眼状态IPS均阳性时,IPS易诱发发作。IPS放电特性与间期EEG及发作类型密切相关。     

全面惊厥性癫痫持续状态患者初始治疗失败的相关因素分析

目的 分析成人全面惊厥性癫痫持续状态(generalized convulsive status epilepticus,GCSE)患者初始静脉输注抗癫痫药物(antiepileptic drugs,AEDs)治疗失败的临床与持续脑电图(continuous electroencephalography,cEEG)监测数据,以便制订更加合理的GCSE治疗方案.方法 汇总2007-2012年先后2个随机对照试验患者的相关数据.将患者分为完全控制和癫痫复发两组,进行比较.记录GCSE患者初始治疗后6h内癫痫复发率、cEEG模式及AEDs血药浓度.结果 癫痫复发组病因、治疗前GCSE持续时间、cEEG模式均与完全控制组存在差异,进一步将3个因素引入多因素Logistic回归方程:仅发作间期癫痫性放电(interietal epileptiform discharges,IEDs)和周期性放电(periodic epileptic discharges,PEDs)和(或)非惊厥性发作持续状态(non-convulsive status epilepticus,NCSE)模式与癫痫复发独立相关(分别为OR=5.486,95％ CI1.708～ 17.621;OR=21.056,95％ CI 3.653 ～ 121.371,均P＜O.05),而病毒性脑炎(OR=10.433,95％ CI 3.223～ 33.769,P＜0.05)和GCSE持续时间＞4h(OR=5.381,95％ CI1.918 ～ 15.096,P＜0.05)又与IEDs模式和PEDs和(或)NCSE模式独立相关.结论 GCSE患者经静脉输注AEDs后须进行cEEG监测,并应成为临床医生判断癫痫是否完全终止的重要手段.临床医生应根据这些相关因素对抗癫痫治疗方案进行个体化调整,以减少癫痫复发.     

探讨儿童部分性癫痫发作发作间期脑电图及与影像学的关系

目的探讨儿童部分性癫痫发作发作间期EEG及与影像学的关系。方法对67例部分性发作的癫痫患儿行长程录像脑电监测(VEEG)及影像学检查,分析发作间期EEG及与影像学的关系。结果与发作间期EEG正常的患儿比较,EEG异常患儿影像学正常率显著降低,影像学异常率显著增高(χ2=5.154,P=0.023)。发作间期异常放电51例患者中,42例(82.4%)间期放电与发作期部位一致,其中20例(47.6%)影像学检查正常,22例(52.4%)影像学检查异常,两者相比差异无统计学意义(P=0.726)。结论发作间期EEG异常部分性癫痫患儿,影像异常率高,大多数患儿发作间期放电与发作期起始放电部位一致。     

疑似奥卡西平加重局灶性癫痫患者临床表现与EEG变化1例报告

正奥卡西平(OXC)是一种新型的抗癫痫药物(AED),是用于局灶性癫痫的一线治疗药物。OXC虽被认为治疗局灶性癫痫有效,但可加重某些患者局灶性癫痫发作,如伴中央颞区棘波的良性儿童癫痫(BECT)。现报道1例局灶性癫痫患者口服OXC期间症状和EEG恶化,疑与OXC有关。1病例患者,男,18岁,因"发作性意识丧失4年"于2016年3月就诊我科。患者4年前出现发作性意识丧失,均发生     

头皮脑电图对结节性硬化患者癫痫手术治疗评估的意义

目的 探讨头皮脑电图(EEG)对结节性硬化患者癫痫手术治疗评估的意义，以及头皮EEG是否为局灶性起始对手术预后的影响。方法 对16例结节性硬化癫痫患者进行头皮长程视频EEG监测，确定其放电部位及发作起始区域。11例患者实施病灶直接切除术，5例患者SEEG植入电极后再行热凝毁损或切除术。结果 16例患者中，有12例患者术后无发作，其中3例患者术前头皮EEG为局灶性起源，9例患者为全面性或半球性起源; 4例患者术后仍有发作，其中2例患者头皮EEG为非局灶性起始，2例患者为局灶性起始。头皮EEG为局灶性起始与非局灶性起始患者的术后无发作率比较，差异无统计学意义(P=0. 547)。结论 头皮EEG表现对结节性硬化患者的癫痫手术评估有指导意义;而头皮EEG是否为局灶性起始对手术预后无明显影响。     

癫痫患者动态脑血流自动调节功能研究

目的 探究癫痫患者的dCA功能。 方法 研究纳入100例癫痫患者和100例年龄、性别相匹配的健康志愿者作为对照组，分别测定其 dCA功能。采用TCD联合无创指尖血压监测法分别连续采集受试者双侧MCA脑血流速度（cerebral blood flow velocity，CBFV）和动脉血压（arterial blood pressure，ABP）信号。将采集的CBFV和ABP信号经 过传递函数法（transfer function analysis，TFA）分析，得出dCA参数（相位差和增益）。 结果 癫痫患者的总体相位差显著低于正常对照组（P =0.046），提示其dCA功能受损。此外，合并 发作间期慢波的患者其相位差更低（P =0.012），dCA功能受损更明显。EEG表现为局灶性放电的患者 与表现为多灶性放电的患者的相位差无显著性差异。同样，在EEG表现为单侧放电的患者中，其放电 侧大脑半球与放电对侧大脑半球的相位差也无显著性差异。通过单因素和多因素回归模型分析临床 因素与dCA参数的关系，发现发作间期慢波与相位差受损独立相关（P =0.016）。 结论 癫痫患者的dCA功能受损，而痫样放电合并发作间期慢波患者dCA受损更明显。dCA功能与癫 痫患者的放电类型、放电部位无关。发作间期慢波是癫痫患者dCA功能受损的独立预测因素。 临床研究注册号 NCT02775682     

2010国际抗癫痫联盟定义耐药性癫痫的相关危险因素分析

目的探讨发展为耐药性癫痫的相关危险因素。方法对2013年3月~2014年7月就诊于苏州大学附属第二医院癫痫专病门诊的230例癫痫患者进行随访观察。依据国际抗癫痫联盟耐药性癫痫定义对纳入患者治疗效果进行评估,对一种抗癫痫药物治疗失败的患者,首选提高药物剂量到50%WHO推荐日剂量以上以达到规范化治疗。对耐药性癫痫的相关因素进行Logistic回归分析,探测相关预测因子。结果多因素Logistic回归分析示MRI阳性(OR=2.214,95%CI:1.011~4.851,P=0.047)、治疗前发作次数≥10次(OR=4.856,95%CI:2.214~10.649,P0.0001)、治疗后EEG癫痫波样异常(OR=3.500,95%CI:1.618~7.571,P=0.001)与耐药性癫痫有显著的相关性。结论 MRI阳性、治疗前发作频率高及治疗后EEG癫痫波样异常的患者易发展为耐药性癫痫。     

The Aspects and Mechanisms of Cognitive Alterations in Epilepsy: The Role of Antiepileptic Medications

Epilepsy is a major health problem. Several studies suggest a significant influence of epilepsy and its treatment on dynamic and functional properties of brain activity. Epilepsy can adversely affect mental development, cognition, and behavior. Epileptic patients may experience reduced intelligence, attention, and problems in memory, language, and frontal executive functions. Neuropsychological, functional, and quantitative neuroimaging studies revealed that epilepsy affect the brain as a whole. Mechanisms of epilepsy‐related cognitive dysfunction are poorly delineated. Cognitive deficits with epilepsy may be transient, persistent, or progressive. Transient disruption of cognitive encoding processes may occur with paroxysmal focal or generalized epileptic discharges, whereas epileptogenesis‐related neuronal plasticity, reorganization, sprouting, and impairment of cellular metabolism are fundamental determinants for progressive cognitive deterioration. Also antiepileptic drugs (AEDs) have differential, reversible, and sometimes cumulative cognitive adverse consequences. AEDs not only reduce neuronal irritability but also may impair neuronal excitability, neurotransmitter release, enzymes, and factors critical for information processing and memory. The present article serves as an overview of recent studies in adult and childhood epilepsy literatures present in PubMed that highlighted cognitive evaluation in epilepsy field (publications till 2008 were checked). We also checked the reference lists of the retrieved studies for additional reports of relevant studies, in addition to our experience in this field. Our search revealed that although the aspects of cognitive dysfunction, risk factors, and consequences have been explored in many studies; however, the mechanisms of contribution of epilepsy‐related variables, including AEDs, to patients' cognition are largely unexplored. In this review, we discussed the differential effect of AEDs in mature and immature brains and the known mechanisms underlying epilepsy and AEDs adverse effects on cognition. The nature, timing, course, and mechanisms of cognitive alteration with epilepsy and its medications are of considerable clinical and research implications.     

癫(癎)患者认知功能障碍及其影响因素的分析

目的 探讨癫(癎)患者认知功能障碍及其影响因素.方法 采用韦氏儿童智力量表及成人智力量表对125例癫(癎)患者的认知功能进行测定,并分析年龄、发作类型、癫(癎)综合征类型、病因、发作频率、严重程度、脑电图改变、服用药物及家族史等因素对其的影响.结果 癫(癎)患者认知功能障碍发生率为18.4%,儿童(27.8%)高于成人(14.6%).癫(癎)组儿童和成人患者总智商(F7Q)、操作智商(PIQ)和言语智商(VIQ)、言语理解因子(VCF)、知觉组织因子(POF)和记忆/注意不分心因子(MF)显著低于相应的正常对照组(均P<0.01).多因素回归分析显示,发作程度越严重、服用药物的数量越多,智商越低,全面发作对智商的影响最明显.结论 癫(癎)患者存在明显的认知功能障碍,发作严重程度、服药数量,发作形式是影响其认知功能的独立危险因素.     

Predictors of neuropsychological impairment in seizure-free epilepsy patients

Persons with epilepsy are at increased risk of cognitive deficits as a result of various factors like etiology, structural brain lesions, seizure frequency, seizure type, age at onset of epilepsy, hereditary factors, psychosocial factors, and possible adverse effects of antiepileptic drugs (AEDs). Despite the fact that the majority of epilepsy patients are seizure-free, previous studies on the relationship between epilepsy-related variables and cognitive function have mainly been conducted on patients with persisting seizures. In this study 158 adults with epilepsy on AED monotherapy and without epileptic seizures for at least 2 years were investigated with a neuropsychological test battery in addition to a neurological examination, MRI and EEG. The major findings were that the group had education and employment status similar to the population mean and neuropsychological function in the normal range. In the patient group without idiopathic generalized epilepsy known cerebral etiology was found to be a highly significant predictor of neuropsychological deficit. For patients with idiopathic generalized epilepsy, early seizure debut at < or =18 years was a powerful predictor of neuropsychological impairment.     

The relative influence of epileptic EEG discharges, short nonconvulsive seizures, and type of epilepsy on cognitive function

PURPOSE: This study addressed whether cognitive impairment in children with epilepsy is caused by disease-related stable factors, such as the type of epilepsy, or by acute effects of paroxysmal epileptic activity such as epileptic EEG discharges. We studied a nonselected group with short nonconvulsive seizures, as these seizures may elude detection and may therefore persist over a longer period. In this group, the diagnostic issue is to differentiate between the combined effects of several epilepsy-related factors on cognition. METHODS: All children were assessed with 32-channel EEG, synchronized with a computerized cognitive test system and a video-monitoring system. Recording time was 2 h. The primary inclusion criteria were unclear seizures and fluctuations in cognitive performance and/or frequent epileptic EEG discharges in a recent EEG. RESULTS: One hundred fifty-two patients met the inclusion criteria; 31 patients appeared not to have a diagnosis of epilepsy and were used as a nonepilepsy control group. Our results show that type of epilepsy has an impact on stable cognitive functions, such as educational achievement. Paroxysmal epileptic activity (acute effects of seizures and epileptic EEG discharges) affects primarily transient mechanistic cognitive processes (alertness, mental speed). CONCLUSIONS: These results suggest that the effects of paroxysmal epileptic activity on transient cognitive mechanisms may accumulate over time and consequently affect the more stable aspects of cognitive function such as educational achievement. The clinical relevance is that early detection of the cognitive impact of seizure-related activity and subsequent treatment may prevent its detrimental impact on cognitive and educational development.     

Relative influence of epileptic seizures and of epilepsy syndrome on cognitive function

Cognitive impairment is frequently observed in children with epilepsy. We aimed at addressing to what extent cognitive function is affected by paroxysmal epileptiform activity with or without clinical seizures or by clinical features characteristic of the epilepsy syndrome. To this purpose, combined electroencephalographic (EEG) recording and cognitive testing (IQ and reaction times) were performed in 28 children. Frequent epileptiform EEG discharges significantly reduced reaction time, as did the occurrence of seizures during cognitive testing. Syndrome-related factors tended to affect cognitive functions as well: children with generalized epilepsy and high average seizure frequency obtained lower scores. Linear regression analysis showed that stable aspects of cognitive function, as reflected in intelligence level, are most closely related to the severity of the epilepsy syndrome (average seizure frequency), whereas transient aspects of cognitive function, such as reaction times, are related to the occurrence of epileptiform EEG discharges. This suggests that seizures have a direct effect on transient cognitive aspects, which can accumulate and result in effects on intelligence level.     

Effect of Seizures and Epileptiform Discharges on Cognitive Function

Summary: Several relationships have been obtained between cognitive impairment and epilepsy-related or treatment-related factors. One of these factors is treatment-related: the central cognitive side effects of the antiepileptic drugs (AEDs). The second and third factors are disease-related factors, i.e., the effect of the seizures and underlying epileptiform discharges in the brain and the localization of the epileptogenic focus in specific areas of the brain. Although most cognitive problems have a multifactorial origin and often several factors combined are responsible for the "make-up" of a cognitive problem, we have attempted to isolate one factor: the effect of seizures and epileptiform EEG discharges on cognitive function. Several studies show the impact of ictal activity, but special attention is required for the postictal and interictal effects of epilepsy on cognitive functions. This may explain substantial cognitive impairments in children with subclinical epileptiform discharges or with infrequent subtle seizures.     

Understanding Lennox–Gastaut syndrome: insights from focal epilepsy patients with Lennox–Gastaut features

To delineate the clinical and EEG features of adults with focal epilepsy associated with a generalized paroxysmal fast activity (GPFA) pattern on EEG who developed refractory seizures, notably drop attacks, but do not fulfill the classical triad for the diagnosis of Lennox–Gastaut syndrome (LGS) and provide further insight into LGS mechanisms. Among 957 patients admitted to video-EEG monitoring between 2002 and 2015, we retrospectively research adult patients with refractory focal epilepsy, drop attacks and GPFA on EEG. We collected demographic, anamnestic, and clinical data from medical records. We reviewed for all patients the interictal and ictal video-EEG recordings. We identified ten patients with focal epilepsy and electro-clinical features of LGS. As compared to classical LGS patients, our patients: (1) began epilepsy later (15.4 ± 8 years); (2) exhibited exclusively focal onset seizures, including drop attacks seizures linked to focal asymmetrical tonic posturing seizures; (3) had a stable cognition over time and (4) evolved favourably with a good secondary response to treatments in 80% of cases. Interestingly, all patients exhibited apparent diffuse interictal and ictal EEG abnormalities but a detailed analysis revealed that 50% had asymmetrical GPFA and 70% secondary bilateral synchrony processes. We may hypothesize here that a process of “secondary LGS” occurred which produced a worsening of seizures with the apparition of drop attacks and GPFA on EEG. This study brings arguments to consider that some cases of LGS could be linked to the development of a “secondary epileptic network” driven by a primary focal epileptic zone.     

The importance of assessing behaviour and cognition in antiepileptic drug trials in children and adolescents

It has long been recognised that uncontrolled childhood epilepsy is detrimental to cognition and behaviour, impacting on a patient’s ability to succeed academically. Patients who experience more frequent and serious seizures are at greater risk for cognitive decline, emphasising the need for more effective epilepsy treatments to bring seizures under control. That said, although more effective antiepileptic drugs (AEDs) have the potential to limit the impact of uncontrolled seizures on cognitive and behavioural function, recently it has been acknowledged that deficits in these functions may be caused by AEDs themselves. The cognitive and behavioural effects of older-generation AEDs have been determined largely from AE reporting rather than from specific assessment. Recently, clinical trials of newer-generation AEDs, such as topiramate, levetiracetam and perampanel, have included standardised neuropsychological tests as outcome measures to assess their impact on cognition and behaviour in children and adolescents. However, to understand how we may limit the cognitive and behavioural side effects of AEDs, it is necessary for us to gain a fuller, more accurate, characterisation of their true impact. Such insight will depend on sophisticated and standardised approaches to the design of AED clinical trials. This review provides a general overview of our current understanding of the impact of both epilepsy and AEDs on cognition and behaviour, before focusing on the AEDs for which more detailed assessment, using standardised cognitive and behavioural measures, has been undertaken. We will then go on to discuss the key elements in the design of future AED clinical trials to address current unmet needs.     

Cognitive Effects of Antiepileptic Drugs

Antiepileptic drugs (AEDs) can adversely affect cognitive function by suppressing neuronal excitability or enhancing inhibitory neurotransmission. The main cognitive effects of AEDs are impaired attention, vigilance, and psychomotor speed, but secondary effects can manifest on other cognitive functions. Although the long-term use of AEDs can obviously elicit cognitive dysfunction in epilepsy patients, their cognitive effects over short periods of up to a year are inconclusive due to methodological problems. In general, the effects on cognition are worse for older AEDs (e.g., phenobarbital) than for placebo, nondrug condition, and newer AEDs. However, topiramate is the newer AED that has the greatest risk cognitive impairment irrespective of the comparator group. Since the cognitive impact of AEDs can be serious, clinicians should be alert to adverse events by evaluating cognitive function using screening tests. Adverse cognitive events of AEDs can be avoided by slow titration to the lowest effective dosage and by avoiding polytherapy.