From pathophysiology to molecular diagnosis in sudden unexpected death in epilepsy

Abstract

Sudden unexpected death in epilepsy (SUDEP), an undesirable event with a relatively small prevalence, often unrecognized and underdiagnosed, is currently at the center of international medical and social events, with the specifi c purpose of awareness raising campaign. Although many general risk factors for SUDEP have been identifi ed, the development of reliable patient-specifi c biomarkers is needed to provide more accurate risk prediction and personalized patient management strategies. The new different genes mutations described in animals and humans, make them valuable genomic biomarkers. In this paper the authors analyze aspects of SUDEP pathogenesis and diagnosis from the perspective of both the current molecular research and the new diagnostic criteria proposed by Nashef et al. in 2012. The authors conclude that in the genomic era we shall be able to optimize and individualize patient management, focusing in the same time on prevention.