Clinical Features And Screening SCN2A Gene For Mutations In Epilepsy With Febrile Seizures Plus

Purpose The purpose of this study is to explore the clinical features of epilepsy with febrile seizures plus(EFS+),to screen the SCN2A gene in 35 EFS+ Chinese probands and to explore the possible relationship between the SCN2A and EFS+. The result can provide reference to the further clinical research and gene diagnosis of EFS+.Methods This study followed up 35 patients with EFS+ visiting our epileptic clinic. The information of clinical manifestation, EEG, brain imaging, medicine therapeutic reaction and genealogical information were collected and analyzed, then analyzing all of them. we collected the patients'blood sample, then screened all 26 coding exons of SCN2A gene with denaturing high performance liquid chromatography (DHPLC) technology,and then sequence analysis was performed on those with abnormal elution peaks.Screend 9 single nucleotide polymorphisms (SNPs) of EFS+ were analyzed by setting up the control group health adult without FS and the control group Lennox-Gastaut Syndrome.Results 35 patients were collected, among these there were 24 male and 11 female. 24 patients had family history of febrile seizures or epilepsy, percentage was 68.6%. There were 4(male 4) SME (2SMEI and 2SMEB), 4(male 3, female 1) GEFS+, 27(male 17, female 10) PEFS+.35 patients had multiple seizure types. Generaly seizures included tonic-clonic, myoclonic, absence, tonic and atonic seizures. Parital seizures included SPS ,CPS and sGTCS. Some of the patients had different degrees of mental developing retardtion, some had abnormality on brain imaging. VPA, TPM and CNZ were the most effective medicines. OXC and CBZ could be beneficial or aggravated. 9 SNP database reported were Screend frome SCN2A in 35 patients , There is no difference in allele frequency of SCN2A exon SNP EXON2.c56,EXON27.c5188 and intron SNP EXON3-28nt,EXON7+61nt,EXON8-32nt,EXON11+49nt,EXON12-16nt between three interclasses.and there is difference in allele frequency of SCN2A introns SNP EXON9-3nt and between three interclasses. There is possible difference in allele genotypic frequency of intron SNP in SCN2A EXON23-31 nt between three interclasses.Conclusions Epilepsy with febrile seizures plus is a disease covers wide range of many epileptic syndromes , and the clinical phenotype includes almost all the epileptic seizures types. Exon SNPs EXON2c. 56 and EXON27c.5188, intron SNP EXON3-28nt,EXON7+61nt,EXON8-32nt,EXON11+49nt and EXON12-16nt of SCN2A gene may not associated with EFS+. Intron SNPs EXON9-3ntand EXON23-31nt in SCN2A gene are possibly associated with EFS+.