中文摘要：

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MR I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MR I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。

英文摘要：

Objective To investigate the clinical characteristics of familial partial epilepsy with variable foci（FPEVF）.Methods The clinical data from the affected and the unaffected members of 2 families with FPEVF were collected,who visited the pediatric neurology clinic from 2008 to 2010.Then the comprehensive pedigrees were constructed and the clinical features,electroencephalography（EEG） and magnetic resonance imagings（MRI） of family members were analyzed.Results 1.There were 44 living members out of a total of 48 members in 2 FPEVF families,of them,21 cases（12 male and 9 female） had been affected（including 1 dead case） and all of them were investigated.Mean onset age was about 5 years,and members in family A had seizure onset between 1 year and 7 years of age,but those in family B had the disease between 2 years and 10 years of age.2.There were no significant predisposing factors before onset of seizure.The clinical manifestations were of different seizure types that occurred while awake or asleep.The types of seizures included the following：10 cases presented with simple partial seizures and 6 cases with complex partial seizures.Three seizure cases were followed by secondarily generalized seizures.Only 2 individuals had subclinical seizures and 1 case had a history of febrile seizure.3.EEG recordings of 19 family members showed focal epileptiform discharges and the EEG abnormalities,with frequent patterns of sharp and spike waves,sharp or spike-wave complexes.The locations of epileptiform abnormalities were heterogeneous among the families,seizures in 5 cases originated from the temporal lobe and 5 from frontotemporal lobe.Four seizures aroused from frontal lobe and 4 from frontoparietal lobe.Another one was from temporoccipital lobe.4.Neurologic examinations were all normal in 20 affected members and neuroimagings was normal except one case,who showed bilateral abnormalities in hippocampus on MRI scan.5.Six cases recovered completely by themselves;seizure attacks and EEG in 2 probands undergoin