Genetic Determinants of Seizures and Epilepsy
Epilepsy is a group of common neurological disorders characterized by heterogeneous clinical presentation. The etiology of epilepsy is multifactorial, involving the influence of multiple gene variants interacting with factors in the environment. Certain rare forms of epilepsy have been attributed to mutations in a single gene, and although the list of such genes that are sufficient to produce epilepsy when mutated is growing steadily, they are directly relevant to only a very small fraction of all cases of epilepsy. Genetic influences in common forms of epilepsy have been more difficult to identify and future studies will focus on strategies to hasten the discovery process. The combination of translational research involving animal models and advances in genome technology will facilitate the identification of genetic variations that influence seizure susceptibility and contribute to the risk for developing common epilepsy. Application of genetic strategies to clinically well-characterized epilepsy patients will provide the added benefit of yielding data that are also relevant to the discovery of genes that influence responsiveness to the effects of antiepileptic drugs. Thus, future research on the genetic influences in epilepsy is anticipated to provide insight into both the underlying biological basis of seizures and potential targets that may be used to develop new treatments.