| Part oneEffects of the polymorphism of ELP4 on the gray matter structures in benign childhood epilepsy with centro-temporal spikesPurpose:To investigate the diferences of gray matter structure based on the voxel-based morphometry in different genotypes of ELP4 rs964112 in BECTS group and HC group,and to combine the difference in Integrated Visual and Auditory Continuous Performance Test(IVA+CPT),Raven’s Standard Progressive Matrices(RSPM)and EEG result to discuss the influence for cognition and the mechanism of the risk genotype in BECTS based on the changes of the gray matter structure.Materials and Methods:A total of sixty-eight BECTS and eighty-nine healthy children were included to receive three-dimensional T1 scans.Then the data were analyzed by voxel-based morphometry,a method included registration and segment.Some of them received Integrated EEG-fMEI scans,IVA+CPT and RSPM.The EEG data in 1000s were preprocessed and read.The gray matter maps of interaction,gene main effect and epilepsy main effect were analyzed by SPM8,and their correlations with clinical data and scale were analyzed by SPSS 22.0.Results:The polymorphism of ELP4 rs964112 remained statistically significant between BECTS group and HC group(GG group was high-risk,T carrier group was low-risk).Brain regions of ELP4 rs964112 interaction included right thalamus and left Rolandic area.Brain regions of gene main effect included bilateral thalamus and Rolandic areas,and epilepsy main effect included bilateral thalamus,right Rolandic area.Compared with BECTS(Tcar)group,the gray matter volume of bilateral Rolandic areas were incread in BECTS(GG)group.Compared with the T carrier group,the gray matter volume of right Rolandic areas and bilateral thalamus were incread in HC(GG)group.Conclusions:ELP4 rs964112 may be a potential risk factor for BECTS.The gene was associated with the centro-temporal spikes trait in BECTS and the gray matter structure changes also in the centro-temporal areas.The polymorphism of ELP4 rs964112 affects the gray matter structure of thalamus-Rolandic epileptic network,which may be the structural basis for the increase of epileptic susceptibility to BECTS.Part twoStudy of functional connectivity network and brain network topology based on the polymorphism of ELP4Purpose:The purpose of this study was to analyze the changes of functional connectivity and brain network topology based on the difference of gray matter structure of different genotype subjects of ELP4rs964112.The potential influence and mechanism of the polymorphism of ELP4rs964112 to the brain network of BECTS were evaluated.Materials and Methods:A total of sixty-eight BECTS and eighty-nine healthy children were included to receive BOLD and 3DT1 scans.After the preprocessing,the datas were analyzed by REST and GRETNA.The FC maps of each subject were analyzed by SPM8,and the global parameters and the local parameters were analyzed by SPSS22.0.Results:Compared with the BECTS(Tcar)group,the BECTS(GG)group exhibited decreased thalamus functional connectivity with the bilateral Rolandic area and putamen/caudate nucleus,and the increased Rolandic area functional connectivity with the bilateral putamen/caudate nucleus.Compared with the HC(Tcar)group,the BECTS(GG)group showed increased thalamus functional connectivity with the bilateral Rolandic area and putamen/caudate nucleus.Compared with the BECTS(Tcar)group,the BC;of left thalamus,the Si of bilateral thalamus were decreased in the BECTS(GG)group.Compared with the HC(Tcar)group,the BC;of rolandic operculum the BECTS(GG)group.Four groups showed small world properties,but global parameters of them were no significant differences.Conclusions:The polymorphism of ELP4 rs964112 related to the changes of functional connectivity among Rolandic area,thalamus and striatum.All of genotype groups showed small world properties,but local parameters indicate a decreased ability and efficiency in Rolandic area and thalamus. |
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