Carla Marini, Anna Rosati, Lucia Fusco, Massimo Mastrangelo, F. Izzo, Sara Olivotto, Sabrina Siliquini, Duccio Maria Cordelli, Maria Cristina Mondardini, Roberta Vittorini, Alessandra Conio, Domenica Immacolata Di Battaglia, Silvia Maria Pulitanò, Pasquale Striano, Antonella Riva, Stefano Sartori, Clarissa Tona, Francesca Darra, Jacopo Proietti, Caterina Zanus, Paola Costa, Elena Parrini, Renzo Guerrini, Federico Vigevano, Patrizia Bartolotta, for the Italian Pediatric Status Epilepticus (IPSE) Group, Martina Vacchetti, Elisabetta Cesaroni, Luca Bergonzini, Anna Fetta, Giulia Cannizzaro, Angela Amigoni, Claudia Bonardi, Marta Conti, Michele Tesi, Alessandro Simonini, Maria Margherita Mancardi, Silvia Buratti, Federica Ascione, Michela Quintiliani, Chiara Veredice, Manuela L'Erario
BACKGROUND AND OBJECTIVES: Genetic factors are major contributors to pediatric epilepsy, but their role in status epilepticus (SE) remains incompletely defined. We aimed to characterize the clinical and genetic landscape of pediatric epilepsy complicated by SE in a large cohort, and to identify clinical features associated with genetic etiologies. METHODS: We conducted a retrospective, multicenter, exploratory cohort study by selecting patients aged 1 month-18 years who experienced SE from the Italian Pediatric Status Epilepticus (IPSE) group database (2010-2022). SE and epilepsy syndromes were defined according to International League Against Epilepsy criteria. From the IPSE dataset, we included only patients with epilepsy whose etiology was classified as genetic (confirmed or presumed) or nongenetic (lesional, autoimmune, metabolic-acquired, infectious, or unknown). Clinical data were collected using standardized electronic case report forms. RESULTS: < 0.001) were independently associated with channelopathies. DISCUSSION: In this large real-world cohort, two-thirds of children with epilepsy and SE had a genetic etiology, most commonly channelopathies. Younger age at SE and epilepsy with both focal and generalized seizure were linked to genetic causes. Despite limitations in testing strategies and retrospective design, these findings highlight the importance of systematic genetic investigation in pediatric epilepsies presenting SE.