Article
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Neurology - 29 Aug 2023
Thalwitzer Kim M, Driedger Jan H, Xian Julie, Saffari Afshin, Zacher Pia, Bölsterli Bigna K, Ruggiero Sarah McKeown, Sullivan Katie Rose, Datta Alexandre N, Kellinghaus Christoph, Althaus Jürgen, Wiemer-Kruel Adelheid, van Baalen Andreas, Pampel Armin, Alber Michael, Braakman Hilde M H, Debus Otfried M, Denecke Jonas, Hobbiebrunken Elke, Breitweg Ina, Diehl Danielle, Eitel Hans, Gburek-Augustat Janina, Preisel Martin, Schlump Jan-Ulrich, Laufs Mirjam, Mammadova Dilbar, Wurst Carsten, Prager Christine, Löhr-Nilles Christa, Martin Peter, Garbade Sven F, Platzer Konrad, Benkel-Herrenbrueck Ira, Egler Kerstin, Fazeli Walid, Lemke Johannes R, Runkel Eva, Klein Barbara, Linden Tobias, Schröter Julian, Steffeck Heike, Thies Bastian, von Deimling Florian, Illsinger Sabine, Borggraefe Ingo, Classen Georg, Wieczorek Dagmar, Ramantani Georgia, Koelker Stefan, Hoffmann Georg F, Ries Markus, Helbig Ingo, Syrbe Steffen
Abstract excerpt
BACKGROUND AND OBJECTIVES: Pathogenic variants in STXBP1 are among the major genetic causes of neurodevelopmental disorders. Despite the increasing number of individuals diagnosed without a history of epilepsy, little is known about the natural history and developmental trajectories in this subgroup and endpoints for future therapeutic studies are limited to seizure control. METHODS: We performed a...
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