ABSTRACT
Objective To investigate the relationship between intelligence impairment and interictal epileptiform discharges spreading in mesial temporal lobe epilepsy(mTLE)patients. Method We assessed 145 patients diagnosed as mTLE and their general materials, analyzed the relationship between intelligence impairment and interictal epileptiform discharges spreading. Results ①Patients with mTLE with longer disease course and higher frequencies of epilepsy tended to have a severe impairment in the total intelligence quotient (IQ), verbal intelligence quotient (vIQ) and performance intelligence quotient (pIQ). ② IQ of was negatively correlated with the condition that interictal epileptiform discharges spreading to the ipsilateral central and parietal region in patients with left lesion; pIQ was negatively correlated with the condition that interictal epileptiform discharges spreading to the ipsilateral frontal region, while positively correlated with the condition that interictal epileptiform discharges spreading to the ipsilateral occipital region in patients with right lesion. Conclusion ①Intelligence impairment of mTLE patients is related with courses and frequencies.②Total IQ is more severely impaired by interictal epileptiform discharges spreading to the ipsilateral central and parietal region in left mTLE patients, and the pIQ is more severely impaired by interictal epileptiform discharges spreading to the ipsilateral frontal region in right mTLE patients.
ABSTRACT
Objective To investigate the potential pathogenesis of Focal cortical dysplasia (FCD), we performed cDNA microarray analysis to obtain gene expression profile of FCD. Methods Three FCD samples and three normal controls were enrolled. Total RNA of the brain tissues were extracted. The difference gene expressions between FCD group and control group was detected using Affymetrix gene chip. The up and down-regulated genes were confirmed by Real-time PCR. Further, the related signal pathways involved in the pathogenic mechanisms of FCD were predicted by bioinformatics. Result In FCD, two up-regulated genes C21orF2 and AU152162 and 5 down-regulated genes ENPP2, ANLN, IP6K3, UGT8, and AZGP were found. Compared the FCD samples with the normal controls , there were significantly different in all down-regulated genes (P 0.05). Using bioinformatics analysis, the ENPP2 , UGT8 , and AZGP1 protein which located in the cell membrane or secreted into the extracellular matrix may be involved in the formation of the myelin sheath and the development of the nervous system by the lipid metabolism and LPA signaling pathway. Conclusion ENPP2, UGT8 and AZGP1 may be involved in pathogenesis of FCD through the process of myelin sheath formation and LPA signal pathway , which warrants further study to know their roles in the pathogenesis of FCD.
ABSTRACT
Objective To study the clinical characteristics of autism in febrile seizures plus (FS+) and the relationship between autism and SCN1A mutation. Methods Clinical data of 103 patients with FS+ treated in epilepsy centre of the Second Affiliated Hospital of Guangzhou Medical University were collected and analyzed. According to the international criteria, generalized epilepsy with febrile seizures plus (GEFS+), partial seizures with febrile seizures plus (PEFS+), Dravet syndrome (DS) and autism were diagnosed. Genomic DNA was obtained from blood samples. SCN1A were PCR amplified and mutations were detected by DHPLC and sequencing. Result Mental retardation was found in 53.8%of patients with GEFS+, 69.2%of patients with PEFS+, and all patients with DS, respectively. One in GEFS+, one in PEFS+and nine in DS patients were accompanied with autism (P<0.01). Among FS+patients with autism, one SCN1A mutation was found in PEFS+patients, while six SCN1A mutations were found in DS patients. Conclusions Majority of GEFS+and PEFS+patients showed mental retardation, while all the DS patients were accompanied with retardation. The occurrence of autism with DS is higher than GEFS+and PEFS+. No definite relationship between autism and SCN1A mutation was indicated.