Clinical Analysis and Gene Mutation Screening of Voltage-Gated Sodium Channel ?1 Subunit in 2 Generalized Epilepsy with Febrile Seizures Plus Families / 实用儿科临床杂志

ABSTRACT

Objective To explore the mutation of voltage-gated sodium channel ?1 subunit(SCN1B)gene in Chinese Han families with generalized epilepsy with febrile seizures plus(GEFS+).Methods Two families pedigrees were established and disease history,physical examination were collected in order to analyze the mode of inheritance.The mutation sites of reported SCN1B gene exon 3-(C46T,G47A,C156G)were detected by polymerase chain reaction sequence special primers(PCR-SSP)method after genomic DNA were extracted.Results There were 13 patients in the 2 families,all were Han people and 9 cases were living.The results showed the mode of inheritance basically corresponds with autosomal dominant inheritance complicated with incomplete penetrance,and leaded to different kinds of phenotype.The mutation sites of SCN1B gene exon 3 were detected by using PCR-SSP method,and heterozygote was not found,and point mutations were also not found in the 2 families.Conclusions GEFS+ is a complex disorder with genetic heterogeneity.There were no gene mutations of SCNIB in the 2 GEFS+ families,which might suggets the possibility of insufficient samples as the patients came from Henan province and the possibility of differences from races and regions of other countries.