Introduction

Recent years have witnessed an explosion of knowledge about genetic causes of infantile epileptic encephalopathies. Many of these syndromes were previously considered symptomatic of unknown etiology or, simply, cryptogenic. These discoveries are providing insights into the underlying pathophysiology of these epileptic syndromes as well as novel opportunities for better diagnosis, prognostication, genetic counseling, and even precision therapies. With the ever accelerating pace of research and discovery in this field, there is, thus, an increasingly widening gap in the knowledge of clinicians of the full range of recent discoveries, their clinical correlates, when and how to test for the underlying genetic etiologies, how to interpret the results of the genetic testing and how to use these results to prognosticate and to treat.

Source: Seminars in Pediatric Neurology - June 16, 2016 Category: Neurology Authors: Mohamad A. Mikati Source Type: research