Neuroradiologic Findings in Patients With S CN2A Disease
Abstract
SCN2A disease spans a broad clinical spectrum from self-limited (familial) neonatal-infantile epilepsy to severe developmental and epileptic encephalopathies. Systematic characterization of the spectrum of neuroradiologic abnormalities in SCN2A disease has not been performed. This study aimed to delineate MRI findings across SCN2A phenotypes, their frequency and evolution, and their relevance for prognosis and clinical trials.
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Authors: Daniel Bamborschke, Zeynep Bendella, Meagan Allen, Licia Salimbene, Marina Trivisano, Daniel Fritzen, Annika Henak, Sopio Gverdtsiteli, Rikke S. Møller, Nicola Specchio, Ingrid E. Scheffer, Markus Wolff, Katherine B. Howell, Ralf Clauberg, Walid Fazeli
Institutions: The University of Melbourne, KU Leuven, Royal Children's Hospital, Murdoch Children's Research Institute, Austin Health, University of Southern Denmark, German Center for Neurodegenerative Diseases, University Hospital Bonn, Bambino Gesù Children's Hospital, Epilepsy Foundation, Epilepsy Action, Swiss Epilepsy Center