Update on the genetic basis of sudden unexpected death in epilepsy

Abstract

Epilepsy is a common neurological disorder associated with increased morbidity and mortality. Sudden unexpected death in epilepsy, also known as SUDEP, is the main cause of death in patients with epilepsy. SUDEP has an incidence of 1.2 per 1000 person-years in adults and 0.2 per 1000 person-years in children. SUDEP accounts for 8–17% of deaths in patients with epilepsy. It is commonly associated with a history of generalized tonic-clonic seizures, and its risk may be increased by other factors such as postictal electroencephalographic suppression, prone sleeping position, altered heart rate variability, conduction abnormalities, gender, or antiepileptic medications. Recently, electrocardiograms, electroencephalograms, and imaging markers have helped clinicians stratify SUDEP risk and identify patients in need of close monitoring. However, the pathophysiology of SUDEP is likely multifactorial and still unknown. Improving the knowledge of SUDEP incidence, risk factors, and biomarkers can help design and implement effective prevention strategies

This work was supported by Obra Social “La Caixa”, Fondo Investigacion Sanitaria (PI17/01690) from Instituto Salud Carlos III (ISCIII), and “Fundacio Privada Daniel Bravo Andreu”. CIBERCV is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness. This work has been supported by Fondi Linea D1—Università Cattolica del Sacro Cuore, Italy