Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies
Julia Oyrer, Snezana Maljevic, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou, Christopher A Reid
PHARMACOLOGICAL REVIEWS | AMER SOC PHARMACOLOGY EXPERIMENTAL THERAPEUTICS | Published : 2018
Epilepsy is a common and serious neurologic disease with a strong genetic component. Genetic studies have identified an increasing collection of disease-causing genes. The impact of these genetic discoveries is wide reaching-from precise diagnosis and classification of syndromes to the discovery and validation of new drug targets and the development of disease-targeted therapeutic strategies. About 25% of genes identified in epilepsy encode ion channels. Much of our understanding of disease mechanisms comes from work focused on this class of protein. In this study, we review the genetic, molecular, and physiologic evidence supporting the pathogenic role of a number of different voltage- and ..View full abstract
Awarded by National Institutes of Health National Health and Medical Research Council Program
This work was supported by National Institutes of Health National Health and Medical Research Council Program [Grant 10915693 to S.F.B., I.E.S., S.P., and C.A.R.].