良性家族性新生儿惊厥的临床特征

目的 探讨良性家族性新生儿惊厥(BFNC)的临床特征及遗传学特点。方法 对3个BFNC家系的遗传方式、临床表现、辅助检查及预后进行总结分析。结果 3家系共20例患者，遗传方式均呈常染色体显性遗传；于出生后2～10d发病，表现为部分性或全身性惊厥发作，1例有发作后嗜睡；无论治疗与否，惊厥发作于18d～18个月完全消失，智能发育正常；1例发作后脑电图表现为弥漫性波幅降低，1例发作时可见癫痫波发放，2例发作间期正常；体格检查、血生化检查、神经影像学检查及染色体核型分析均正常；5例行抗癫痫治疗，均有较好疗效。结论 BFNC为常染色体显性遗传性癫痫综合征，具有遗传异质性，临床特点为新生儿期出现的、可自行消失的、预后良好的惊厥发作，可有发作后嗜睡，血生化及神经影像学检查正常，发作间期脑电图正常，对抗癫痫药物反应较好。诊断主要依靠家族史及临床表现。     

剥夺睡眠脑电图在儿童非癫痫性发作的价值

目的比较非癫痫性发作、疑似癫痫及正常儿童对剥夺睡眠脑电图检查诊断的敏感性及实用价值。方法选择临床表现酷似癫痫发作38例（男13例，女25例；年龄4～12岁，平均8．1岁），有明确诱发因素，行常规EEG及剥夺或部分剥夺睡眠——睡眠EEG诱发试验，作自身对照，除脑电异常放电者。同时随机抽取有反复发作疑似癫痫、且常规脑电图检查正常102例（男63例，女39例；年龄3～12岁，平均7．3岁）与106例（男57例，女49例；年龄3～12岁，平均7．6岁）无癫痫临床发作史的对照组，以同样方法的诱发试验作比较。结果所有病例脑电图的背景电活动频率均明显变慢。非癫痫发作组38例睡眠EEG诱发试验均为阴性，因其诱发试验前后数据一致，故该组无统计意义；拟诊癫痫组脑电图有棘／尖慢复合波等癫痫样放电者57例（55．9％）；对照组诱发后脑电图异常出现2例（1．9％）癫痫样放电者，3组比较有非常显著差异（X^2=97．3 P〈0．01）。结论剥夺睡眠后脑电图出现癫痫样电活动的敏感性高于常规脑电图检查，拟诊癫痫的敏感性高。该检查对非癫痫样发作排除癫痫有实用价值。     

全面性癫痫伴热性惊厥附加症一家系随访分析

目的探讨全面性癫痫伴热性惊厥附加症（GEFS^＋）的临床意义。方法回顾性分析GEFS^＋一家系的临床发作情况，作详细体格检查。进行脑电图、24h动态脑电监测，部分患者作头颅CT检查。结果先证者Ⅳ12以抽搐频发3d入院，生后8个月开始高热惊厥（FS）。此次发作为无热性频发全面性强直一阵挛发作。该家系5代共36人。其中有14例患者；男8例，女6例；年龄4岁5个月～82岁，除Ⅰ2发作类型不详外，Ⅱ2、Ⅲ1、Ⅲ4、Ⅲ6、Ⅳ1、Ⅳ11、Ⅳ17、Ⅴ2为FS，Ⅳ2、Ⅳ12、Ⅳ13、Ⅳ14为FS^＋，Ⅴ1为FS^＋和失神发作。除Ⅳ13、Ⅳ14。目前予丙戊酸镁治疗外，其他患者已减量停药或未用药，均无发作。全家系成员智能发育、全身及神经系统检查均正常。3例行头颅CT检查，均正常。结论GEFS^＋为常染色体显性遗传性疾病，具有显著遗传异质性和表型异质性。认识该综合征对诊断和鉴别诊断儿童时期癫痫具有重要的临床意义。     

儿童偏头痛与癫痫相关性的研究

目的 探讨儿童偏头痛与癫痫的相关性及鉴别诊断。方法 对32例偏头痛患儿（其中9例并临床癫痫发作）进行脑电图及临床分析。结果 32例中脑电图异常18例，其中14例为偏头痛，异常率为43.75%,4例枕叶癫痫，3例普通型头痛伴癫痫发作，脑电图3次复查正常，2例复杂型偏头痛伴临床癫痫发作，脑电图均表现异常。结论 儿童偏头痛常常表现脑电图非特异性异常，甚至痫样放电，但以脑电图异常不能代替临床诊断，头痛性癫痫的诊断必须结合临床表现和脑电图检查结果综合判定，并与偏头痛进行鉴别。某些偏头痛可以伴癫痫发作，两者交叉重叠。极易混淆，对头痛性癫痫的诊断应慎重。     

三个家族性高胆固醇血症样表型纯合子家系遗传异质性及其系谱分析

目的对3个纯合子型家族性高胆固醇血症（FH）样表型家系进行基因检测及系谱分析，初步探讨FH异质性的分子基础。方法对3个先证者及家系成员进行血脂测定、心电图、心脏及大血管彩色多普勒超声检查，采用聚合酶链反应（PCR）-变性高效液相色谱（DHPLC）法结合扩增产物直接序列分析检测低密度脂蛋白受体（LDL-R）、载脂蛋白（apoB）、枯草溶菌素9（PCSK9）基因，结果与GenBank比对，并进行家系分析。结果先证者3例初诊时年龄均〈16岁，血浆胆固醇水平〉258mg／dL，出生时即有黄色瘤，之后多处出现黄色瘤并有角膜环，可确诊为纯合子型FH。1例出现早发冠心病，多次发生心绞痛。LDL-R基因发现313＋1G→A纯合突变。检查3家系3代共86例，根据血脂和临床表现确诊17例杂合子FH患者，系谱分析家系1、2遗传方式符合常染色体显性遗传规律，家系3符合常染色体隐性遗传规律。结论证实3个家族性高胆固醇血症样表型系谱，系谱分析可初步明确FH遗传方式，结合基因检测可对FH异质性的诊断和治疗提供依据。     

家族性周期性麻痹8例报告和文献复习

目的报告8例儿童家族性周期性麻痹(FPP)病例,复习相关文献,以提高对其认识。方法回顾性总结8例FPP儿童的家系遗传特性、临床特征、辅助检查结果及治疗,分析其病因和诊断。结果6例为家族性低血钾型周期性麻痹,具有常染色体显性遗传的特征;发作时血清钾1.9~2.8 mmol/L,平均2.4 mmol/L;心电图出现U波等低血钾改变;其中1例血糖减低。另2例属于家族性正常血钾型周期性麻痹,也有常染色体显性遗传特性;发作时血清钾正常;1例血糖降低。8例甲状腺功能、肾功能和肌电图均正常。结论FPP为一组少见遗传性的骨髂肌离子通道病,根据家系遗传学特征、临床表现和相关辅助检查可确诊。     

小儿夜间发作额叶癫痫的正电子发射扫描与视频脑电图对照研究

目的探讨小儿夜间发作额叶癫痫的正电子发射扫描（PET）与视频脑电图（VEEG）的特征及治疗后VEEG改变。方法收集2005年6月--2008年6月本院儿科确诊的夜间发作额叶癫痫患儿37例（实验组），其他类型的夜间发作的癫痫患儿60例（对照组）。记录二组患儿性别、发病年龄、发作频率、癫痫家族史。实验组予卡马西平或奥卡西平治疗，有过敏者予丙戊酸钠或托吡酯治疗。均行头颅PET检查，治疗前、治疗3个月行VEEG检查，实验组30例及对照组所有患儿行头颅MR／检查。结果实验组患儿PET存在额叶异常者24例（64．9％）；实验组17例患儿PET为单侧异常，其中16例患儿VEEG痫性放电为单侧。实验组和对照组患儿PET与VEEG完全一致、部分一致、完全不一致的差异无统计学意义（P〉0．05）。19例PET正常或轻度异常患儿，VEEG清醒期有痂性放电8例，睡眠期放电8例，清醒和睡眠均放电3例；7例PET重度异常患儿，清醒期及睡眠期均有痫性放电6例，PET结果与VEEG痫性放电时期呈正相关（r=0．461 P〈0．05）。治疗后原7例PET正常患儿中5例VEEG为轻度异常；而7例PET重度异常患儿4例VEEG中度异常，3例重度异常，其PET结果与治疗后VEEG的异常程度呈正相关（r=0．410P〈0．05）。结论夜间发作额叶癫痫患儿存在额叶异常，其PET检查结果与患儿的VEEG痫性放电的时间和部位相符、相关，PET重度异常的患儿治疗后VEEG仍较差。     

病灶多变的家族性部分性癫(癎)家系的临床研究

目的 探讨病灶多变的家族性部分性癫(FPEVF)家系的临床特征.方法 收集2008-2010年就诊于本院小儿神经专科门诊的2个FPEVF家系资料,建立家系系谱图,对先证者家系成员的临床特征、脑电图(EEG)、头颅MRI等进行总结分析.结果 1.FPEVF 2个家系共48名成员,存活44名,受累患者达21例(1例死亡).男12例,女9例;平均发病年龄5岁,起病年龄:家系A:1～7岁,家系B:2～10岁.2.发作前无明显诱发因素,白天夜间均有发作,临床表现为单纯部分性发作10例,复杂部分性发作6例,局灶继发全面性发作3例,亚临床发作2例,其中1例伴热性惊厥史.3.EEG检查19例,均有样放电,表现为频发尖波、棘波、尖慢波或棘慢波,其中起源于颞区、额颞区各5例,额区、额顶区各4例,颞枕区1例.4.存活患者20例的神经系统检查均正常,1例双侧海马异常,余MRI均正常.5.自行缓解6例,2例先证者经丙戊酸钠、托吡酯治疗,发作和EEG均有明显改善.结论 1.FPEVF是一种少见的家族性部分性癫综合征,呈常染色体不完全显性遗传,昼夜均可发作,临床多见部分性发作.2.具有明显的表型异质性和遗传异质性,临床易误诊为其他家族性部分性癫,家族史调查是诊断FPEVF的关键.3.不同家系成员脑电图部分性样放电起源于不同脑区,多见于额颞区,且大脑结构无异常.     

腹型癫痫47例

对发作性腹部剧痛１２９例病儿进行了脑电图检查，确认为腹型癫痫４７例（３６．４％）。认为脑电图对诊断本病有重要意义，常规记录正常者，诱发试验可显著提高阳性率，对儿童期发作性腹痛应想到本病，诱发试验可显著提高间歇期脑电图诊断率。     

儿童癫痫标准过度换气量化脑电图研究

目的：研究标准过度换气量化脑电图对小儿癫痫诊断的临床价值。方法：应用“FLY－2”型神经生理信息工作站，分析40例癫痫患儿及40例正常儿童过度换气前后不同时段脑电图样本，计算脑电图信号的功率谱密度，进行统计分析，比较两组间的差异。结果：（1）过度换气3min时癫痫患儿其慢波（δ，θ）较正常儿童明显增多（P＜0．05），全导α2波较正常对照组减少，停止换气后30s时，正常儿童脑电图已恢复至换气前水平，癫痫患儿EEG慢波（δ，θ波）仍多于对照组，结论：过度换气使癫痫患儿脑电图明显慢波化，对脑电图无棘波发放的癫痫患儿有辅助诊断的作用。     

Benign familial infantile convulsions: a clinical study of seven Dutch families.

Benign familial infantile convulsions (BFIC) is a recently identified partial epilepsy syndrome with onset between 3 and 12 months of age. We describe the clinical characteristics and outcome of 43 patients with BFIC from six Dutch families and one Dutch-Canadian family and the encountered difficulties in classifying the syndrome. Four families had a pure BFIC phenotype; in two families BFIC was accompanied by paroxysmal kinesigenic dyskinesias; in one family BFIC was associated with later onset focal epilepsy in older generations. Onset of seizures was between 6 weeks and 10 months, and seizures remitted before the age of 3 years in all patients with BFIC. In all, 29 (67%) of the 43 patients had been treated with anti-epileptic drugs for a certain period of time. BFIC is often not recognized as (hereditary) epilepsy by the treating physician. Seizures often remit shortly after the start of anti-epileptic drugs but, because of the benign course of the syndrome and the spontaneous remission of seizures, patients with low seizure frequency do not necessarily have to be treated. If prescribed, anti-epileptic drugs can probably be withdrawn after 1 or 2 years of seizure freedom.     

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??Abstract??Objective To summarize the electroclinical features and outcome of benign infantile epilepsy??BIE??. Methods BIE patients were collected in Pediatric Department of Peking University First Hospital.The clinical and EEG data of patients were analyzed.The treatment effects and outcome of patients were followed up.Results In 49 BIE patients??21 were male and 28 were female. The seizure onset age ranged from 3 months to 13 months.Partial seizures were observed in 26 patients??53.1%????secondarily generalized seizures in 23 patients??46.9%????39 patients ??76.9%?? had a history of cluster seizures.No patients had history of status epilepticus??24 patients had a family history of seizures??15 patients had a family history of benign familial infantile epilepsy.The interictal EEG was normal in 33 ??67.3%?? cases.The interictal discharges were recorded in 16 cases.Ten of sixteen cases had interictal discharges in lateral or bilateral Rolandic area. Ictal video EEG was recorded in 4 patients.Ictal discharges originated from temporal region in three patients and from occipital region in one patient.Five patients were not treated with antiepileptic drugs??and 44 patients accepted antiepileptic monotherapy. Treatment time ranged from 2 months to 24 months ???12.5??9.9?? months??.All patients were followedup over two years ??and no one had seizure relapse. Conclusion The features of BIE include the onset age before one year old??manifesting partial seizures or secondarily generalized seizures??and usually a cluster of seizures??normal interictal EEG or small spikes in Rolandic area??good response to antiepileptic drugs and benign outcome.     

良性家族性婴儿惊厥家系KCNQ2基因新突变

目的 分析电压门控钾离子通道基因KCNQ2与1个良性家族性婴儿惊厥（benign familial infantile convulsions,BFIC）家系的关系,探讨BFIC的分子遗传机制。方法 1个中国陕西地区4代BFIC家系,采集41名家系成员及家系外75名健康对照的血样,采用PCR扩增、DNA直接测序技术进行KCNQ2基因突变分析,采用多聚酶链反应-单链构象多态性进行基因型和表型共分离研究。结果 PCR—DNA直接测序在先证者第5号外显子发现KCNQ2基因杂合突变G812T,导致KCNQ2蛋白孔区一个甘氨酸被缬氨酸替代（G271V）,这个位置的甘氨酸在KCNQ家族进化上高度保守。此突变与以前发现的良性家族性新生儿惊厥（benign familial neonatal convulsion,BFNC）家系KCNQ3突变（G3IOV）是同一位置相同的氨基酸改变。家系中其他患儿均检出与先证者相同的突变,而家系内参加本研究的健康人和家系外75名健康对照未出现这种突变。结论 KCNQ2基因突变可能是部分BFIC的分子发病机制,KCNQ2基因G812T突变是国内外未曾报道过的新突变,进一步开展G812T突变的功能研究有助于理解BnC及其他原发件癫痫的分子发病机理．     

肌阵挛失张力癫(癎)的临床和脑电图特点

目的 总结肌阵挛失张力癫(癎)(MAE)的临床和脑电图特点.方法 分析MAE患儿的临床和视频脑电图及同步肌电图资料,并对治疗效果进行随访.结果 收集MAE患儿共47例,其中25例有热性惊厥史,20例有热性惊厥和(或)癫(癎)家族史,发病前智力运动发育均正常.起病年龄1.4～5.8岁,首次发作为无热的全面强直-阵挛发作(GTCS)41例(87.2%),肌阵挛发作4例,失张力发作2例.病程中均有多种发作类型,包括GTCS46例(97.9%)、肌阵挛失张力发作34例(72.3%)、肌阵挛发作47例(100%)、失张力发作32例(68.1%)、不典型失神36例(76.6%)和强直发作3例(6.4%).出现多种类型的发作时脑电图背景均为弥漫性慢波或顶区为主的θ节律,发作间期呈全导1～4 Hz(以2～3 Hz为主)棘慢波、多棘慢波发放.所有患儿均首选抗癫(癎)药物(AEDs)治疗,41例(87.2%)应用AEDs发作控制,其中37例单用或合用丙戊酸,26例联合应用拉莫三嗪.10例(21.3%)发病后出现智力落后.结论 MAE的临床特点包括:发病前发育正常,多数以GTCS起病,病程中具有多种全面性癫(癎)发作类型,肌阵挛失张力发作是其特征性发作类型;脑电图呈全导棘慢波、多棘慢波发放.早期明确诊断并合理选择AEDs是取得良好预后的关键.

Abstract：

Objective To summarize the electroclinical characteristics of myoclonic atonic epilepsy (MAE) in children. Method The clinical data, video electroencephalogram (EEG) and simultaneous electromyography (EMG) of MAE patients were analyzed. The treatment and its effects were followed up.Result In 47 MAE patients, 25 had a history of febrile seizures ( FS), 20 had a family history of FS or epilepsy. All patients had a normal development before the illness. The age of afebrile seizure onset was between 1.4 years to 5.8 years. The first seizure was generalized tonic-clonic seizure (GTCS) in 41 patients (87.2%). All patients had multiple seizure types, including 47 GTCS (97.9%), 34 myoclonic atonic seizures (72. 3% ), 47 myoclonic seizures ( 100% ), 32 atonic seizures (68. 1% ), 36 atypical absences (76. 6% ) and 3 tonic seizures (6. 4% ). EEG backgrounds were slow or parietal θ rhythm, interictal EEG showed 1-4 Hz (predominant 2-3 Hz) generalized spike and wave or poly spike and wave discharges in all cases. Seizures were controlled by antiepileptic drugs (AEDs) in 41 patients (87.2%). Valproate was used in 37. Lamotrigine was used in 26. Mild mental retardation was observed in 10 children after the onset of the illness. Conclusion The clinical features of MAE included the following: the development was normal before the onset of the illness; the onset of seizure type was often GTCS. All patients had multiple generalized seizure types. Myoclonic atonic seizure was its characteristic seizure type. EEG showed generalized discharges. Early diagnosis and rational choice of AEDs are important for getting a better prognosis.     

儿童惊吓性癫(癎)的临床及脑电图特征

目的 探讨儿童惊吓性癫(癎)的临床及脑电图特征.方法　对2003年12月-2008年3月在北京大学第一医院儿科就诊的7例惊吓性癫(癎)患儿的病因、发作诱发因素、发作类型、脑电图特点、治疗及预后进行回顾性分析.结果　7例惊吓性癫(癎)患儿中男4例,女3例;起病年龄为5个月～7.5岁.有病因学异常6例,涉及4种不同的获得性病因;有影像学异常6例,以局部脑萎缩多见.7例均有惊吓性发作,同期有自发性发作,其中4例以自发性发作起病.发作的诱因5例为声音刺激,2例为碰触刺激.惊吓性发作的类型包括强直-不典型失神发作、肌阵挛发作、肌阵挛-强直发作、强直发作及局限性发作,与自发性发作类型可相同或不同.发作期脑电图常见弥散性电压衰减图形,并可见与发作类型相关的其他图形.病例对多种抗癫NFDF4药的治疗均未见明显疗效.结论　惊吓性癫(癎)常见为症状性的反射性癫(癎),声音及碰触刺激为主要诱发因素,惊吓性发作包括全面性发作及局限性发作中的多种类型,发作期脑电图常见为弥散性电压衰减图形.本病对抗癫(癎)药治疗反应欠佳,总体预后差.     

齿状核红核苍白球路易体萎缩症两家系的临床和遗传学特点研究

目的:分析2个齿状核红核苍白球路易体萎缩症(DRPLA)家系的临床和遗传学特点,总结基因型与表型的相关性。方法:收集2018年7月至2019年3月就诊于北京大学第一医院2个以遗传性癫痫和共济失调为主要表现的家系中先证者和相关家系成员的外周血、临床资料和辅助检查结果,通过采用全外显子组测序及毛细管电泳和片段分析检测三核苷...     

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern.

AIMS: To determine if there is an electroencephalographic pattern suggestive of pyridoxine dependent epilepsy that could be used to improve the chances of early diagnosis. METHODS: A retrospective study was made of all the clinical records and electroencephalograms of neonates identified with pyridoxine dependent seizures between 1983 and 1994, at this hospital. Neonates whose seizures began after more than 28 days of life were excluded; in all, five patients from four families were studied. Follow up ranged from 2 to 10 years. RESULTS: A history of miscarriage and neonatal death during an epileptic seizure had occurred in the siblings of two families. One mother reported rhythmic movements of her child during the last month of pregnancy. At birth, all babies were hypotonic; four had decreased visual alertness. All babies were agitated, irritable, jittery, hyperalert, and exhibited sleeplessness and a startle reaction to touch and sound. Age of onset of seizures varied from 30 minutes to 3 days. Seizures of various types were recorded in all cases on EEG tracings, including spasms, myoclonic seizures, partial clonic, and secondary generalised seizures. Burst-suppression patterns occurred in three cases, and a combination of continuous and discontinuous patterns in two others. Bilateral high voltage delta slow wave activity was observed in four patients. Psychomotor delay was severe in three patients, moderate in one, and mild in one. CONCLUSIONS: There is an identifiable EEG pattern that is highly suggestive of pyridoxine dependent epilepsy. Pyridoxine dependent epilepsy is probably underdiagnosed.     

GABRA1基因变异相关癫痫的临床表型特点

目的探讨GABRA1基因变异相关癫痫患儿的临床表型特点.方法收集2016年3月至2019年7月在北京大学第一医院儿科就诊的癫痫患儿,并通过靶向捕获二代测序发现GABRA1基因变异的11例患儿(男4例、女7例),回顾性总结其临床表现、脑电图及头颅影像学特点.结果11例患儿中,10例为新生变异,1例为遗传性变异.2例患儿携带相同的变异,6例患儿携带国际未报道的新变异.癫痫起病年龄8(3~14)月龄,其中1岁内起病10例,1岁后起病1例.癫痫发作类型多样,其中局灶性发作10例,全面性强直-阵挛发作3例,肌阵挛发作3例,痉挛发作2例.有5例患儿具有多种发作类型.9例发作有热敏感特点,其中6例因发热诱发癫痫持续状态.2例具有光敏感特点.11例患儿脑电图显示背景异常5例,发作间期有异常放电6例.所有患儿的头颅磁共振成像均未见明显异常.9例患儿有不同程度的发育落后.临床诊断为Dravet综合征5例,婴儿痉挛症2例,不能分类的早发癫痫性脑病1例,其余3例为局灶性癫痫.11例患儿末次随访年龄为8月龄~12岁,8例癫痫发作已缓解6个月~8年,其中1例已停用抗癫痫药物.结论GABRA1基因变异中新生变异较遗传变异常见,其导致的癫痫多数在婴儿期起病,癫痫发作类型多样,局灶性发作最为常见.多数患儿发作预后好,但普遍发育落后.     

Malformations of cortical development and epilepsy: evaluation of 101 cases (part II)

Malformations of cortical development (MCD) form a spectrum of lesions produced by insult to the developing neocortex. Clinical presentation and electrophysiologic findings of MCD are variable and depend on the affected cortical area. We evaluated epilepsy, EEG, and response to antiepileptic treatment in patients with MCD with respect to the neuroimaging findings. We studied 101 patients, ranging between 1 month and 19 years of age. Fifty-four patients were diagnosed with polymicrogyria (PMG), 23 patients with lissencephaly, 12 patients with schizencephaly, and 12 patients with heterotopia. With regards to epilepsy and seizure type, 72/101 (71.3%) patients had epilepsy, and 62/101 (61.4%) patients presented with seizures. Overall, 32.7% of patients had generalized seizures, and 25.7% had complex partial seizures. Mean age at the onset of seizures was 2.7 +/- 3.4 years. The onset of epilepsy tended to be younger in patients with lissencephaly and older in patients with heterotopias. Of the cases, 79.2% had abnormal EEG (56.3% with epileptiform abnormality, 22.9% with non-epileptiform abnormality). EEG was abnormal in 44.9% (13/29) of the cases without epilepsy. EEG showed bilateral synchronous and diffuse epileptiform discharges in 90% of patients with lissencephaly. Patients with schizencephaly had mostly focal epileptiform discharges. Heterotopia cases had a high rate of EEG abnormalities (72.7%). Patients with PMG had epileptiform abnormality in 59.5% of the cases. Patients with heterotopias and PMG achieved better seizure control in comparison with the other groups. In conclusion, epilepsy is the most common problem in MCD. Epilepsy and EEG findings of patients with MCD are variable and seem to be correlated with the extent of cortical involvement.