摘要婴儿痉挛症(infantile spasm,IS)是常见的早期癫痫性脑病,特殊的癫痫发作形式、脑电图高度失律及发育迟缓是其典型的三联征表现.IS的病因可分为症状性、隐源性和特发性,随着基因诊断技术的发展,单基因异常所致的早期癫痫性脑病逐渐增多,且不同基因可能存在相同表型及不同表型可能为同一基因所致的特性,为本病基因诊断及相关治疗提供有力证据.该文综述与IS相关的CDKL5、ARX、STXBP1、SCN2A、KCNQ2及TSC基因突变的临床表型,从而早期识别特定的基因突变,更有针对性地选择抗癫痫药.

abstractsInfantile spasm is a common type of early epileptic encephalopathy.It is typically featured with the triad of infantile spasms,hypsarrhythmia electroencephalogram and developmental retardation.The causes of infantile spasms include symptomatic,cryptogenic,and unknown factors.With the development of gene diagnosis technology,the number of early epileptic encephalopathy caused by single gene abnormality is increasing gradually.Meanwhile,different genes may present as same phenotype,and vice versa.It provides strong evidence for gene diagnosis and related treatment of the disease.This paper is to summarize the clinical phenotype of infant spasms related ARX,CDKL5,STXBP1,SCN2A,KCNQ2 and TSC gene mutations on the basis of collecting related literature review,which helps to achieve early identification of specific mutations and more specific selection of antiepileptic drugs.