title: Syndromes at risk of status epilepticus in children: genetic and pathophysiological issues.
abstract: 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.
authors.affiliation: Department of Child Neurology, University of Giessen, Giessen, Germany.
authors.forename: Bernd A
authors.initials: BA
authors.lastname: Neubauer
authors.affiliation: Department of Child Neurology, University of Giessen, Giessen, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Hahn
mesh_terms: D001921:Brain / Q000503:physiopathology; D001927:Brain Diseases / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D012307:Risk Factors; D013226:Status Epilepticus / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome
keywords: childhood; classification; etiology; genetics; prolonged seizures; status epilepticus