ABSTRACT

This project investigates if there is significant evidence pointing towards a possible genetic component in the development of epilepsy. Epilepsy is a disorder of the central nervous system characterized by abnormal electrical activity in the brain that results in a wide array of symptoms, most notably seizures. However, despite the prevalence of epilepsy, in a large number of cases the causes of the disorder are less certain, especially due to the high degree of variation in presentations. This project provides a brief overview of epilepsy and genetics to attempt to determine if there is a genetic component to this disorder. Several types of epilepsy are discussed including generalized epilepsy and focal epilepsy. Some significance is also placed on idiopathic generalized epilepsies. An analysis of various genetic mechanisms of development is conducted including single gene epilepsies, those that arise in families and de novo mutations, chromosomal abnormalities, epilepsies with modifiers and susceptibility alleles, and epilepsies with complex inheritance. Various methods of genetic inheritance, including autosomal dominant inheritance, autosomal recessive inheritance, and X-linked inheritance are also discussed. A personal story and case study of epilepsy in a family is also presented. The project goes on to investigate the genetic testing methods that are used to determine if an individual has a form of genetic epilepsy. The project concludes with a discussion of novel diagnostic methods and treatments that could result from further investigation of the field of epilepsy genetics.