Declan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, Ismael Ghanty, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S Møller, Rima Nabbout, Brigid M Regan, Amy L Schneider, Ingrid E Scheffer, An-Sofie Schoonjans, Joseph D Symonds, Sarah Weckhuysen, Sameer M Zuberi, Dennis Lal, Andreas Brunklaus
OBJECTIVE: SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many variants are de novo, making early phenotype prediction difficult, and genotype-phenotype associations remain poorly understood. METHODS: We assessed data from a retrospective cohort of 1018 individuals with SCN1A-related epilepsies. We explored relationships between variant characteristics (position, in silico prediction scores: Combined Annotation Dependent Depletion (CADD), Rare Exome Variant Ensemble Learner (REVEL), SCN1A genetic score), seizure characteristics, and epilepsy phenotype...
February 27, 2024: Epilepsia