关键词: 惊厥，发热性；基因，SCN1A；多重连接依赖式探针扩增

Abstract:

Objective    To study clinical features of febrile seizure and the correlation between the voltagegated sodium channel α 1 subunit(SCN1A) gene and febrile seizure. Methods    A study was conducted among 34 infants with febrile seizure. Clinical data including onset age, seizure type, EEG and prognosis were analyzed. Multiplex ligation-dependent probe amplification(MLPA) technique was applied to detect exon deletions or duplications of the SCN1A gene in 34 infants with febrile seizure. Results    Among the 34 infants, there were 29 cases of simple febrile seizure，and 5 cases of complex febrile seizure. No exon deletion or duplication of the SCN1A gene was detected in any of the 34 infants. Conclusion    Deletions or duplications in the SCN1A gene might not be a susceptible factor for febrile seizure.

Key words:  Seizures， febrile; Genes, SCNIA; Multiplex ligation dependent probe amplification