John Libbey Eurotext

Syndromes at risk of status epilepticus in children: genetic and pathophysiological issues Volume 16, numéro spécial 1, October 2014


Department of Child Neurology, University of Giessen, Giessen, Germany
* Correspondence: Bernd A. Neubauer Department of Child Neurology, Feulgenstr. 10-12, 35392 Giessen, Germany

Status epilepticus (SE) is a medical emergency with increased risk of morbidity and mortality in all age groups. Recent research has identified a variety of new genes implicated in disorders with severe epilepsies as a prominent feature. Autoimmune mechanisms have also been recently recognised as a cause of epilepsies with SE as a characteristic symptom. Knowledge about the aetiology potentially underlying SE may help to guide diagnostics and eventually influence treatment decisions. This review recapitulates, in brief, the risk of SE in specific clinical settings, provides an overview of paediatric epilepsy syndromes more commonly, or by definition, associated with SE, and summarizes some recent research data on genetic defects and disease mechanisms implicated in the pathogenesis of epilepsies frequently accompanied by SE.