Genetic Etiologies of Epilepsies With Status Epilepticus

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.

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Journal
Neurology
Published
2026-03-31
DOI
https://doi.org/10.1212/wnl.0000000000214791
Citations
1
Primary Topic
Epilepsy research and treatment
Type
article
Field-Weighted Citation Impact
20.78
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Genetic Etiologies of Epilepsies With Status Epilepticus

Maria Cristina Mondardini, Anna Rosati, Alessandro Simonini, Luca Bergonzini et al.
1 citations
Neurology
Epilepsy research and treatment
20.78
article

Genetic Etiologies of Epilepsies With Status Epilepticus

Maria Cristina Mondardini, Anna Rosati, Alessandro Simonini, Luca Bergonzini, Patrizia Bartolotta, Elena Parrini, Francesca Darra, Sabrina Siliquini, Maria Margherita Mancardi, Martina Vacchetti, Federico Vigevano, Duccio Maria Cordelli, Roberta Vittorini, Alessandra Conio, Chiara Veredice, Claudia Bonardi, Elisabetta Cesaroni, Lucia Fusco, Angela Amigoni, Sara Olivotto, Jacopo Proietti, Silvia Buratti, Federica Ascione, Caterina Zanus, Clarissa Tona, Massimo Mastrangelo, Carla Marini, Paola Costa, Anna Fetta, Giulia Cannizzaro, F. Izzo, Silvia Maria Pulitanò, Michele Tesi, Marta Conti, Manuela L'Erario, Antonella Riva, Pasquale Striano, Domenica Immacolata Di Battaglia, Renzo Guerrini, Michela Quintiliani, for the Italian Pediatric Status Epilepticus (IPSE) Group, Stefano Sartori
article en
1 citations

Abstract

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.

NeurologyVol. 106(8)
University of Padua (IT), Vita-Salute San Raffaele University (IT), IRCCS Materno Infantile Burlo Garofolo (IT), Istituto Giannina Gaslini (IT), Agostino Gemelli University Polyclinic (IT), Ospedale Santa Chiara (IT), IRCCS Policlinico San Donato (IT), Provincia Autonoma di Trento (IT), Meyer Children's Hospital (IT), Azienda USL di Bologna (IT), Istituto delle Scienze Neurologiche di Bologna (IT), Bambino Gesù Children's Hospital (IT), IRCCS Ospedale San Raffaele (IT), Ospedale Regina Margherita (IT), Ospedale dei Bambini Vittore Buzzi (IT), ERN GUARD-Heart (NL), Ospedali Riuniti Umberto I (IT), University of Florence (IT), University of Genoa (IT)
Good health and well-being
Openalex Percentile: Top 1%
Epilepsy research and treatment
20.78
DOISourceOpenAlex
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