Abstract

Over the past decade, genetic discovery in the epilepsies has transformed our understanding of underlying disease processes. This is particularly the case for the severe epilepsies of childhood, or developmental and epileptic encephalopathies (DEEs) where it is possible to make a genetic diagnosis in approximately 50% of patients, likely to increase as genomic technologies advance. For the 30% of people with epilepsy whose seizures remain resistant to medication, this represents an opportunity for precision therapies, or aetiology-targeted treatments that address the cause of the epilepsy, rather than the generic anti-seizure medications that have until now formed the treatment armamentarium. Recently, novel therapies targeted at correcting the genetic abnormality have emerged for conditions such as Dravet syndrome. However, the promise of precision medicine is yet to be realized for the vast majority of patients with genetic epilepsies. In this talk, I will discuss the current landscape of therapies for ultra-rare epilepsies and the opportunities offered by novel disease models and therapeutic approaches.