Understanding the pathogenesis of FCD type II using qPCR

Focal cortical dysplasia (FCD) is a malformation of cortical development. It is increasingly known as one of the most common causes of pharmaco-resistant epilepsies in both adults and children. Recent developments have been made with regards to the cellular and molecular biology of FCD type II, however, the pathogenic mechanism remains mostly unidentified.
The study therefore analysed the expression of microRNAs as a shortcut to gain a better understanding of the mechanisms involved in the pathogenesis of FCD type II. NEUROG2, a transcription faction implicated in neuronal and glial fate specification, was found to be upregulated in FCD. A NEUROG2-target, called RND2, was also found to upregulated. In addition to this, strong nuclear expression of NEUROG2 was observed in balloon cells and dysmorphic neurons.

chnique is early sex determination, usually performed through PCR-based techniques, either end-point PCR or qPCR. While the most usual method for sex determination, sonography, is not reliable during the first trimester of pregnancy, the analysis of cffDNA allows us to perform gender determination as early as 9 weeks gestation. It can detect specific sequences of the Y-chromosome with great accuracy, which, if detected, would mean that the foetus is a male.