Deciphering the Natural History of <i>SCN8A</i> -Related Disorders

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.