Deciphering the Natural History of <i>SCN8A</i> -Related Disorders
Jan Magielski, Stacey Cohen, Michael C. Kaufman, Shridhar Parthasarathy, Julie Xian, Elise Brimble, Nasha Fitter, Francesca Furia, Elena Gardella, Rikke S. Møller, Ingo Helbig, Jillian L. McKee
Abstract
BACKGROUND AND OBJECTIVES: -related disorders encompass a range of neurodevelopmental and epilepsy phenotypes. However, despite representing one of the most common epilepsy-associated channelopathies, its longitudinal phenotypes remain largely uncharacterized. METHODS: -related disorders to reconstruct the natural history of the disorder in comparison with a cohort of 2,833 individuals with known or presumed genetic epilepsies. RESULTS: variants may have GOF mechanisms. DISCUSSION: -related disorders, paving the way for future precision medicine approaches.