Chapter 51 - Spontaneous and Gene-Directed Epilepsy Mutations in the Mouse

Abstract

Spontaneous mutations in mice, along with those generated by genetic engineering approaches, are essential tools to understand the pathogenesis of human epilepsies. Monogenic models provide a coherent, reproducible lesion and a tractable biological starting point to explore the remarkably diverse biology of seizure disorders in the developing brain. Current clinical classification schemes estimate that about two thirds of all human epilepsies, formerly deemed idiopathic, are now considered to be of primarily genetic origin. Over 150 monogenic epilepsies have been identified. For each of these inherited disorders, a genetically defined mouse mutant can help identify the key molecular defects in excitability and plasticity in the developing epileptic brain, uncover new molecular targets for therapy, and serve as a reproducible biological test system for experimental strategies to prevent or reverse the onset of seizures.