Article
Development and Adaptive Function in Individuals With SCN2A-Related Disorders.
Neurology - 12 Aug 2025
Goad Beatrice Southby, Rodda Jill, Allen Meagan, Bamborschke Daniel, Overmars Isabella, Kerr Rachel J, Bushlin Ittai, Chopra Saurabh, Coorg Rohini, Dabscheck Gabriel, Freeman Jeremy L, Mackay Mark T, Devinsky Orrin, Guerrini Renzo, Parrini Elena, Bölsterli Bigna, Hughes Inna, Huh Linda L, Kamate Mahesh, Kunz Abby B, Melikishvili Gia, Miteff Christina, Myers Kenneth Alexis, Olson Heather E, Poduri Annapurna, Pillai Sekhar, Riney Catherine Kate, Sinclair Adriane, Calvert Sophie, Reynolds Thomas Q, Martinez Ana Roche, Russo Angelo, Sadleir Lynette Grant, Sanchez-Albisua Iciar, Sartori Stefano, Shea Stephanie, Smith-Hicks Constance L, Spooner Claire G, Thomas Rhys H, Ardern-Holmes Simone L, Webster Richard Ian, Valeriani Massimiliano, Veggiotti Pierangelo, Masnada Silvia, Ware Tyson L, Yoong Michael, Berecki Geza, De Dominicis Angela, Specchio Nicola, Trivisano Marina, Møller Rikke Steensbjerre, Wolff Markus, Fazeli Walid, Scheffer Ingrid, Howell Katherine B
Abstract excerpt
BACKGROUND AND OBJECTIVES: Developmental impairment is common in individuals with SCN2A-related disorders, although descriptions are limited. We aimed to determine trajectories and outcomes of development and adaptive function. METHODS: This was a mixed retrospective cross-sectional study of individuals from an international SCN2A Natural History Study, who had neurologic/neurodevelopmental disorders due to an...
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