Are Genes Associated with Epilepsy?

Assoc. Prof. Dr. Kerem Teralı, Deputy Dean of the Faculty of Medicine and lecturer in the Department of Medical Biochemistry of Cyprus International University (CIU) stated that CIU Faculty of Medicine took part in a scientific research project on genetic epilepsy and said, "Thanks to the project, we identified a total of eight new mutations in a gene called SCN1A in our Turkish patient group affected by genetic epilepsy syndromes, and we made a significant contribution to the scientific literature by predicting how it affects its structure and function by predicting how each mutation affected the protein coded by the gene in question.”

Pointing out that genetic epilepsy syndromes are closely related to the genes carried by the individual, Teralı said, “Abnormal changes, which we call mutation, occurring in a single gene or a group of genes, may cause the brain to be underactive or overactive, and this may cause seizures in individuals with genetic epilepsy.” 

Teralı reminded that epilepsy is a common chronic neurological disease characterized by recurrent seizures due to excessive electrical discharge in a group of brain cells, said, “Seizures involve part or all of the body and are sometimes accompanied by loss of consciousness and loss of bowel or bladder control. It manifests itself with involuntary tremor attacks." 

Pointing out that epilepsy affects more than 50 million people worldwide, Teralı noted that although the underlying causes of epilepsy are diverse, recent advances in DNA sequencing technologies and computational approaches have revealed that the genetic infrastructure plays a much greater role in epilepsy than previously thought.

Teralı also stated that the first and oldest mutations found to be associated with the formation mechanisms of epilepsy were identified in the genes encoding various components of ion channels in brain cells and said, “For example, in Dravet syndrome, which is a severe form of epilepsy that occurs in infancy or early childhood, approximately 80% of the cases are caused by de novo mutations in the SCN1A gene, i.e., those not inherited from parents." 

Speaking about the details of the study they conducted at CIU Faculty of Medicine, Teralı said, “Although seizures can be controlled with medication in the majority of epilepsy patients, optimal treatment is mainly possible by determining the underlying genetic cause. Therefore, increasing scientific studies like this is essential for the development of targeted and effective antiepileptic treatments in epilepsy.”