The Hitchhiker's guide to the child neurologist's genetic evaluation of epilepsy

Abstract

Over the past several decades, familial aggregation studies as well as twin studies have supported a genetic component to seizures. The recent advent of the genome project has served as a catalyst in the search for elucidating the hereditary influences of various epilepsies. Overlapping seizure features may lead to ambiguity when attempting to isolate a single phenotype. Conversely, the phenomenon of genetic heterogeneity implies that multiple genetic mutations may give rise to a similar phenotype. Despite valiant attempts at strictly defining epilepsy phenotype and mode of penetrance, one must also consider the role of environment in gene expression. Genetics (testing) in epilepsy is no longer limited to the idiopathic epilepsies but may have an equally significant role in the symptomatic epilepsies. This article guides the reader through the genetics of epilepsy via discussion of the phenotypic description of known genetic childhood epilepsy syndromes, illustration of the associated gene mutations identified thus far, and the implications of genetic testing in clinical practice.