Increasing Blurriness of the Borders Between Focal and Generalized as Well as Cryptogenic and Idiopathic Epilepsies in Defining the Role for Focal Epilepsy Surgery

This case studies issue includes 2 excellent, intriguing case reports. The title of the case report by Wirrell is a little confusing, as following the surgical workup, no surgery ensued once the diagnosis of the syntaxin binding protein 1 gene c901delC mutation had been made. Thorough workup to that point had localized fairly well the seizures to be arising from the left temporoparietal region. In view of the genetic diagnosis and good response to vigabatrin, he was not considered to be a surgical candidate. However with recent, rapid advances in diagnosing genetic diseases in not just epilepsy but numerous disorders, many previously cryptogenic (or unknown cause) cases now have a genetic etiology. Indeed, successful temporal lobectomies have been performed in 2 patients (one with hippocampal sclerosis and one without) with SCN1B mutations and temporal lobe epilepsy phenotypes, with them both becoming seizure free. Certainly a genetic diagnosis of an idiopathic (or genetic) epilepsy currently would make one think twice about performing focal epilepsy surgery; however, it should not be a complete contraindication, and I believe many more focal epilepsy surgeries will be performed successfully in these patients as increasingly more genetic mutations are discovered. We all certainly hope this reported case of the young boy׳s seizures remain controlled; however, should they become refractory, he may still be cured of epilepsy by a tailored left temporoparietal focal resection.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research