Forschung & Innovation
Publikationen
Lennox-Gastaut syndrome unveiled
PMU Autor*innen
Gerhard Kluger, Milka Pringsheim, Celina Von Stulpnagel
Alle Autor*innen
Antonella Riva, Gianluca D'onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stephane Auvin, Irene Bagnasco, Paola Barabino, Valentina Biagioli, Isabella Brambilla, Giuliana Cangemi, Antonietta Coppola, Antonella De Lillo, Carlo Di Bonaventura, Giancarlo Di Gennaro, Edoardo Ferlazzo, Antonio Gil-nagel, Giuseppe Gobbi, Simona Lattanzi, Gerhard Kluger, Gunter Kramer, Maria Margherita Mancardi, Carlo Minetti, Lino Nobili, Elisa Paravati, Milka Pringsheim, Erika Rebessi, Antonino Romeo, Angelo Russo, Emilio Russo, Katia Santoro, Susanne Schubert-bast, Laura Siri, Jo Sourbron, Maria Stella Vari, Alberto Verrotti, Flavio Villani, Maurizio Viri, Celina Von Stulpnagel, Nelia Zamponi, Federico Zara, Pasquale Striano
Fachzeitschrift
EPILEPSIA
Kurzfassung
Lennox-Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood-onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical features derives from the high etiological heterogeneity within the syndrome, which could make its prevalence overestimated. However, in recent years, our diagnostic strategies, including both high-resolution magnetic resonance imaging and next-generation sequencing techniques, have enabled us to disentangle many cases previously classified as "idiopathic." In addition, some electroencephalographic and circulating biomarkers have been identified that could predict disease progression and treatment response if confirmed in larger patient populations. As our diagnostic capacity increases, so do our treatment strategies. Although progress has been made, the implementation of better clinical trial designs, individualized treatments, and therapies that address the genetic roots of the disease remains necessary in clinical practice. A lot is being done in this direction, thanks to the involvement of families and the creation of international networks, such as the ERNs, which are rapidly promoting collaboration among highly specialized centers and the establishment of disease registries to shed light on the natural history of LGS. Yet, many unmet needs still afflict patients and their families, including uncertainties arising from the transition process and a lack of administrative support and comprehensive care as patients transition into adulthood. This article summarizes these key challenges in diagnosing, treating, and caring for patients with LGS, as well as the roadmap to enhanced future care discussed during the international LGS meeting held in Genoa.
Keywords
EPILEPSY, Lennox-Gastaut, Multidisciplinary care, Patient advocacy