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目的分析Dravet综合征的临床特点,并对新诊断患儿进行SCN1A基因筛查,寻找基因突变。方法收集3例Dravet综合征患儿临床资料,留取例1患儿血样标本,提取外周血白细胞基因组DNA,对SCN1A全部外显子进行PCR扩增,通过变性高效液相色谱法对PCR产物进行突变片段筛查,对于变性高效液相色谱法筛查有异常的片段利用双脱氧法进行基因测序。利用基因序列分析软件进行测序结果分析。结果 1.Dravet综合征3例患儿的共同表现:均在1岁内起病;初以热性惊厥起病,1岁后逐渐转变为无热惊厥;发作形式包括肌阵挛、阵挛、不典型失神发作等;对药物治疗反应差,随病程进展出现精神运动发育迟缓或倒退;发作间歇期EEG可见尖慢波、棘慢波、多棘慢波发放或伴阵发。2.基因筛查结果发现SCN1A基因新突变c.2867T>G,可导致所编码氨基酸改变(M956R),经检索(截至2010年11月)尚未见该位点突变报道。结论 Dravet综合征是以热性惊厥起病但预后差的癫性脑病,临床应注意与热性惊厥鉴别。Dravet综合征患儿发病与SCN1A基因突变有相关性。
Objective To analyze the clinical features of Dravet syndrome and to screen new diagnosed children for SCN1A gene and find out the gene mutation. Methods The clinical data of 3 children with Dravet syndrome were collected. The blood samples of 1 children were collected and the genomic DNA of peripheral leukocytes was extracted. All the exons of SCN1A were amplified by PCR. The PCR products were analyzed by denaturing high performance liquid chromatography Mutational fragment screening for abnormal denaturing high-performance liquid chromatography screening of fragments using dideoxy method for gene sequencing. Gene sequencing software was used to analyze the sequencing results. The results of 1. Delavet syndrome in 3 cases of children with common manifestations: all within 1 year old onset; early onset of febrile seizures, 1 year after the gradual change into no febrile seizures; seizures include myoclonus, clonus, Atypical seizures and so on; poor response to drug treatment, with the progress of mental retardation or regression; intermittent episodes of EEG can see sharp slow waves, spikes and waves, spike and spike with multiple spikes. Gene screening results showed that the new mutation of SCN1A gene c.2867T> G, can lead to the encoded amino acid changes (M956R), the search (as of November 2010) have not yet seen the site mutation reported. Conclusion Dravet syndrome is a febrile seizure onset but poor prognosis of epileptic encephalopathy, clinical attention should be differentiated from febrile seizures. The incidence of children with Dravet syndrome is associated with SCN1A gene mutation.