Epilepsy is a serious disease that affects 1 out of 50 individuals and they usually come in various kinds. However, roughly 60 percent of epilepsies are referred to as partial epilepsy or focal epilepsy. It means the seizures originate from a single portion of the brain. Back then it was believed that this kind of epilepsy was instigated by factors such as tumors or brain injury. Today, Scheffer states that “”…if you have focal epilepsy and there is no cause known, then this gene should be tested to look for a mutation.”
Scheffer and her team did their research by studying approximately 90 families in which two of its members suffer from epilepsy. Their studies demonstrated that a gene termed as DEPDC5 triggers focal epilepsy in roughly 12 percent of families where two members acquired epilepsy. The team reported that “This high frequency establishes DEPDC5 mutations as a common cause of familial focal epilepsies.”
According to Scheffer, we still “need to comprehend more about the gene, DEPDC5”. At present the team has found out that the specific protein the gene instructs for is concerned with signaling within the body’s cells. She adds that once everyone comprehends what goes amiss, then specialists can think of ways to target the problem and “really improve outcomes.”
The research team took note of the fact that in the families they studied, there were members who displayed autism spectrum syndromes, psychiatric attributes and intellectual incapacities. Scheffer states that she and her team consider that DEPDC5 might be a factor in those mentioned conditions as well but they have to study more patients with the same disorders and gene mutations to firmly determine a link.
Aside from paving the way for new prospects in terms of identifying epilepsy, the research team also considered that their findings will also result in improved treatments and procedures for the disease.