Background: Epilepsy genetics is a complex and rapidly expanding field that involves the contributions and collaborative efforts of geneticists, molecular biologists, epidemiologists, and clinicians.
Review summary: This article first provides a background review of basic terminology and contributions from the fields of epilepsy, genetics, and genetic epidemiology. It further describes the evidence for the genetic basis of epilepsy and enumerates the linkage findings and epilepsy susceptibility genes reported to date. It then addresses existing knowledge about the genetics of electroencephalogram abnormalities and their relationship to clinical epilepsy. Finally, it gives guidelines for genetic counseling, with attention to patients' frequently asked questions.
Conclusions: This review provides a framework for understanding current and future investigations in the field of epilepsy genetics and a way to assist and educate individuals and families living with epilepsy.