Abstract：Objective To detect the genotype of 41 SNP loci of SV2A gene in children with benign epilepsy with centrotemporal spikes (BECTS) and non-BECTS epilepsy, and reveal the relationship between BECTS and SV2A gene polymorphism.Methods We selected 69 patients who met the diagnostic criteria of BECTS in the pediatric outpatient and inpatient of the First Affiliated Hospital of Harbin Medical University from September 2014 to November 2016 as BECTS group. All of the BECTS patients aged 3-14 years old and were diagnosed with CTS discharge by 24h electroencephalogram (EEG) signals. A total of 99 patients aged 1-16 years old without BECTS during the same period were selected as the control group, who had undergone 24 h EEG to exclude the presence of CTS discharge. We also extracted DNA from their venous blood, and detected the genotypes of 41 SNP loci of SV2A with Sequenom MassArray.Results As with rs577935 locus of SV2A gene, there were 62 cases of homozygous GG and 7 cases of heterozygous AG in BECTS group, plus 77 cases of homozygous GG and 22 cases of heterozygous AG. Patients with GG genotype have 2.53 times risk of BECTS as those with AG genotype (P<0.05). There were also significant distribution between BECTS group (all cases of homozygous TT) and control group (50 cases of homozygous TT and 43 cases of T deletion) on rs783832 locus. There were not any statistically significant differences for other loci.Conclusion The GG genotype of rs577935 and TT genotype of rs111783832 in SV2A gene may be associated with the occurrence of BECTS.
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