Diagnostic Panel of Three Genetic Biomarkers Based on Artificial Neural Network for Patients With Idiopathic Generalized Epilepsy

Abstract

The aim of this study is to evaluate the utility of an artificial neural network (ANN) model in diagnosing idiopathic generalized epilepsy (IGE) and to compare the results of the diagnostic model constructed by combining the expression levels of miR-146a, miR-155, and miR-132 genes using ANN, random forest (RF), and discriminant analysis (DA). qRT-PCR is employed to determine the expression levels of the three miRNA genes. Forty-six IGE patients and 51 healthy controls were included in the study. Three genetic biomarkers were employed to assess the discriminative power of the disease, and they were combined using ANN. Additionally, the performance of ANN was compared with RF and DA. Compared to healthy controls, the miR-132 gene was significantly higher (p < 0.001) and the miR-155 and miR-146a genes were significantly lower in IGE patients (p < 0.001). The area under the curve (AUC) for predictions made by the ANN, RF, and DA were 0.96, 0.87, and 0.75, respectively, with accuracy rates of 0.96, 0.88, and 0.76, respectively. We demonstrate that ANN exhibits the highest accuracy, AUC, sensitivity, and specificity values among the three methods. The obtained results indicate that the combination of the three genes used as markers in IGE plays a significant role in the diagnosis of the disease. Instead of assessing biomarkers individually for the disease, combining them using machine learning methods leads to improved model performance. Additionally, not relying on a single genetic biomarker for the disease enables discrimination based on the collective impact of all biomarkers.