目的 探讨疑诊遗传性癫痫患儿基因突变检出率及检出结果.方法 收集2018年9月-2020年5月于郑州大学第三附属医院小儿神经内科疑诊为遗传性癫痫患儿的临床资料,采用二代高通量基因测序对患儿进行全外显子组检测,并采用Sanger测序进行家系验证,分析基因突变检出率及检出结果.结果 共收集165例患儿,其中82例基因突变,突变率为49.7％(82/165).检出结果中共涉及35种基因,突变率排名前4位的为SCN1A(23.2％,19/82)、PRRT2(11.0％,9/82)、PCDH19(8.5％,7/82)、KCNQ2(7.3％,6/82);起病年龄、发育落后与基因突变检出率差异有统计学意义(均P＜0.05);发作类型、家族史、出生史、头颅磁共振与基因突变检出率差异无统计学意义.结论 起病年龄、发育落后与基因突变检出率有一定相关性;基因突变检出率随着年龄增长逐渐降低,以3月龄内检出率最高.

目的 通过分析212例郑州大学第三附属医院初诊癫痫患儿的院内与河南省各基层医院的诊断及用药,探索河南省各基层医院对癫痫的诊断及用药水平.方法 收集2018年12月至2019年2月在郑州大学第三附属医院小儿神经内科初次诊断为癫痫的患儿资料,遵循最新的癫痫诊断及治疗方案进行分析.结果 212例患儿经河南省各基层医院全部诊断为癫痫,但未对其进行分型诊断.后经郑州大学第三附属医院诊断,确诊癫痫综合征59例,153例未归为癫痫综合征.153例中全面性发作68例(44.44％),局灶性发作78例(50.98％),起始不明发作7例(4.58％);病因遗传性10例(6.54％),结构性53例(34.64％),感染性2例(1.31％),代谢性2例(1.31％),免疫性1例(0.65％),未知病因85例(55.56％).212例患儿在河南省各基层医院共117例(55.19％)未用药,48例(22.64％)单药治疗,23例(10.85％)二联用药,23例(10.85％)三联及以上用药,1例用药不详(0.47％).后经郑州大学第三附属医院调整治疗方案后,22例(10.38％)未用药,单药治疗为121例(57.08％),二联用药43例(20.28％),三联及以上用药26例(12.26％).结论 癫痫发病机制复杂,癫痫的诊断及分型存在很大困难.在所有癫痫患儿中大多数未归为癫痫综合征,其中以局灶性发作为主,对癫痫患儿的用药均以单一用药为主.河南省各基层医院与郑州大学第三附属医院对癫痫患儿的诊断的正确率很高,但河南省各基层医院在分型诊断上有所不足,且未用药率较高.

目的:从癫痫患儿的诊疗情况、家庭、教育、免疫接种及社会支持情况多方面了解癫痫患儿的生存现状，分析影响其生存质量的相关因素，以利于癫痫患儿的合理管理。方法:对2019年1月至6月于郑州大学第三附属医院儿内科门诊就诊的癫痫患儿进行问卷式断面研究，用临床资料调查表了解其生存相关资料，同时对符合条件的患儿采用儿童生存质量测定量表(PedsQL)调查其生存质量。结果:起病年龄多在2岁以下(203例，40.1%)，活动性癫痫占86.6%，单药治疗者占50.1%，39.9%伴发育落后，门诊用药可使用医保者仅0.8%，46%的癫痫患儿发病后未再进行免疫接种。癫痫患儿生理、心理、社会、角色及综合质量各维度生活质量平均秩次分别为212.39、211.58、195.67、162.39、196.19，均低于对照组儿童(251.52、253.34、285.15、240.95、284.13)，差异有统计学意义( Z值－3.032、－3.226、－6.939、－6.768、－6.763， P均<0.05)。多元回归分析显示，患儿的发育情况、教育、对家庭经济的影响、免疫接种、发作情况影响其生存质量生理维度( t值分别为7.123、4.16、3.582、2.497、2.401， P均<0.05)；发作、病程、独生子女、对家庭经济的影响、家庭教养方式对其心理维度有影响( t值为3.279、－2.948、－3.253、2.016、－1.975， P均<0.05)；发育、对家庭经济的影响、药物数目、教育情况、家庭情感支持、病程对其社会维度有影响( t值为10.139、3.341、2.842、3.043、2.826、－2.446， P均<0.05)；发育、药物数目、对家庭经济的影响、父母学历、年龄对其角色维度有影响( t值为7.547、3.691、2.799、2.295、－2.106， P均<0.05)；发育、对家庭经济的影响、药物数目、发作、病程对综合质量有影响( t值为9.495、4.364、2.394、3.247、－2.817， P均<0.05)。 结论:癫痫患儿生存现状差、各维度生存质量均低，主要受发育情况、发作、口服药物数目、病程、年龄、教育、对家庭经济影响、是否为独生子女、家庭教养方式、家庭情感支持、父母学历及免疫接种的影响，应受到高度关注，并给予相应干预。

Objective To explore the relationship between different mutation characteristics and clinical phenotype of children with Dravet syndrome (DS) with SCN1A gene mutation,and to summarize the drug efficacy.Methods The clinical data of children diagnosed as DS from the Department of Pediatrics Neurology,the Third Affiliated Hospital of Zhengzhou University from January 2014 to May 2018 were collected.The peripheral blood DNA of the children was detected by adopting next generation sequencing for epilepsy-related gene-panel,while the parents' were screened by using Sanger sequencing for family verification.Multiple ligation-dependent probe amplification technology was used to detect large fragment variation of SCN1A gene if the mutations of the children were negative.The Gesell scale and cavity Wechsler intelligence scale for children(C-WISC) were used to evaluate the intelligence of children.Results A total of 50 cases of DS were collected,38 cases of them were positive for SCN1A mutation,and the mutation rate was 76.0％ (38/50 cases),of which,the missense mutation[50.0％ (19/38 cases)] and frameshift mutation[28.9％ (11/38 cases)] were dominant.The average onset age of 50 patients was 6 months,of which onset of seizures was triggered by fever(temperature ＞ 37.5 ℃) in 68.0％ (34/50 cases)of children,the history of seizures in hot baths was found in 60.0％ (30/50 cases) of children,status epilepticus was found in 74.0％ (37/50 cases),cluster-like episodes was found in 80.0％ (40/50 cases),≥2 seizure types was found in 92.0％ (46/50 cases).Mental retardation was found in most of the children,of which 30.0％ (15/50 cases) were mild mental retardation,38.0％ (19/50 cases) were moderate mental retardation,14.0％ (7/50 cases)were severe intelligence retardation.Interictal abnormalities of electroencephalogram(EEG) before 1 year old was found in 24.0％ (12/50 cases),and the average age of EEG abnormalities was 30.12 months old;the top three drug efficacy rates were 70.0％ (28/40 cases) of Topiramate,48.0％ (24/50 cases) of Sodium Valproate,45.7％ (16/35 cases) Clonazepam or Clobazam.The time of onset of myoclonus and atypical absence of the truncation mutation group was earlier than that of the missense mutation group(14.75 months vs.21.20 months;16.82 months vs.26.00 months),and the difference was statistically significant (P ＜ 0.05).The proportion of clustered episodes in the truncation mutation group was higher than that in the missense mutation group [94.7％ (18/19 cases)vs.63.2％ (12/19 cases)],and the difference was statistically significant (P ＜0.05).There was no significant correlation between the SCN1A gene mutation (type and position) and age of onset,type of seizure,proportion of convulsion persistence,the mental development or abnormal proportion of EEG and seizure frequency before 1 year old(all P ＞ 0.05).Conclusions The SCN1A gene mutation rate is high in children with DS,and the SCN1A gene mutation characteristics has a certain correlation with DS clinical phenotype.Topiramate is the most effective drug among children with DS.