Deoxyribonucleic acid (DNA) is present in every human cell nucleus that makes up your genes. DNA is a double stranded structure that consists of four bases, which are called adenine (A), guanine (G), Cytosine (C), and Thymine (T). Gene is present on the DNA, which is a small section of the same and codes for a particular protein via translation process. During DNA replication, DNA forms a new and similar strand with the same ATGC configuration. However, sometimes, mismatch occurs that results into mutation. So, when a mutant DNA is transcribed and translated, the resulting protein formed does not work properly. Scientists have now confirmed that some of the genes that are involved in epilepsy have these mismatch errors.
Scientists have studied an individual with epilepsy in a family and correlated the inheritance of a specific DNA marker or a mutant gene. A variety of mutant genes have been identified that can be effectively assayed in small blood samples. They are doing genetic analysis to find mutant genes of interest. They first identify a family with epilepsy, and then collect DNA samples from family member with epilepsy, and family members without epilepsy. Next, genetic analysis is done on the blood sample to locate genes that might be involved in causing the epilepsy. Locations of genes of interest are identified, and finally the mutant genes can be found.
Some of the epileptic genes involved are KCNQ2, KCNQ3, SCN1B, SCN1A, and GABRG2.