Figure 1. A recent history of gene identification and phenotypic characterizations of the epilepsies.

A. The pace of gene discovery is continuing at a steady pace but slowing over time as we reach the limits of gene discovery power achievable with current exome studies. However, our knowledge of phenotypic characterization continues to rapidly increase, leveraged by large studies of many hundreds of individuals with genetic epilepsy. B. Evidence supporting the validity of gene-disease relationship is bolstered over time by repeated case series, natural history analyses, and evidence gained from functional testing. Importantly, mounting genetic and experimental evidence also leads to gene-disease relationships being refuted over time (as represented by genes highlighted in red).