How do somatic mutations occurring in the brain contribute to the pathophysiology of drug resistant epilepsy? Focal epilepsies, especially those associated with radiographic or pathologic abnormalities in the brain, affects 1% of children and are often associated with brain-limited somatic mutations. Next generation sequencing techniques predicated on the access to surgically resected brain tissue have resulted in our increased understanding of the molecular mechanisms of epilepsy. However, we are just beginning to investigate the complex and multifactorial role of mosaic variants in epilepsy its role in epileptogenesis. Greater understanding of the genetic underpinnings of epilepsy is paramount to developing novel therapeutic strategies for refractory epilepsy and expanding our precision medicine efforts to this patient population.

Dr. H. Westley Phillips recently published “Utility of minimally invasive endoscopic skull base approaches for the treatment of drug-resistant mesial temporal lobe epilepsy: a review of current techniques and trends” in the Journal of Neurosurgery. This publication was also featured as the cover article of the journal.