The Clinical Research And DNA Quality Control Of The Blood Sample On The Benign Childhood Epilepsy With Centrotemporal Spikes

Objective To explore the atypical clinical presentation, electroencephalography (EEG) characteristics, treatment and prognosis of benign childhood epilepsy with centrotemporal spikes (BECT).Methods We collected122cases of BECT Children in Qilu Hospital from2006to2012,and ambulatory EEG or video EEG monitoring was performed for11cases BECT Children who had some atypical symptoms.The seizure semeiology, neuropsychological impairments and response to antiepileptic drugs were analyzed and followed up.Results All11cases had type changes of seizure or EEG deterioration. Sodium Valproate was only effective in2cases. Valproate combined with clonazepam was effective in4cases. Topiramate were effective in3cases. There was still electrical status epilepticus during sleep after various antiepileptic drug therapy in2cases.Conclusion BECT had atypical presentations and some different seizure semeiology. The clinical presentations were associated with EEG deterioration and cognitive deficits. The seizures were relatively difficult to control. Objective To explore genetic factors of benign childhood epilepsy with centrotemporal spikes (BECT), and carry out the preliminary DNA quality control for some blood sample of BECT genome-wide association studies.Methods We collected samples from31cases of BECT children in Qilu Hospital of shandong university,17cases of men, who accounted for54.84%; Women14cases, accounting for45.16%; Aged1to9, carried out hybridization between the processed DNA samples and high flux single nucleotide polymorphisms (SNPS) parting chips and completed information acquisition of the SNP chips through a specific scanner. We proceed quality control with the spectrophotometer instrument (NanoDrop) and fluorescence staining (PicoGreen) two methods for the concentration of DNA on the basis of finishing the preparation of MSA3and alkali denaturalion-whole genome amplification, and detected classification samples and the call rate values of SNPS loci. The final data was analyzed by Ⅲumina gene studio.Results (1) In31cases blood sample of qilu hospital BECT children, DNA PicoGreen dye detection, the maximum of DNA concentration is153.3Cone ng/uL, the minimum is56Cone (ng/uL), the average is105.4290323ng/uL; NanoDrop detection, the maximum value is614.45ng/uL, the minimum value is70.67Cone (ng/uL), the average value is134.7929032ng/uL.(2) The highest Call Rate value of SNP loci in DNA is0.9977756. the lowest is0.9875269, the average value is0.99567989. DNA detection Rate is higher.Conclusion The DNA quality control of blood sample with NanoDrop and PicoGreen method, the high quality DNA sample, and the high detection rate of SNP loci laid a foundation for subsequent analysis and genotyping and correlation analysis in second phase for more sample.