Progress of genotypes and phenotypes of infantile spasms / 国际儿科学杂志

ABSTRACT

Infantile 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.