In this episode of Better Edge, a Northwestern Medicine Neurology panel including Niccolo Mencacci, MD, PhD, Sarah Brooker, MD, PhD, and Elizabeth Gerard, MD, discuss their groundbreaking research surrounding the NUS1 gene and its impact on neurological disorders.Their recently published research, The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series, covers a comprehensive case series of 41 patients with pathogenic variants in the NUS1 gene, highlighting a spectrum of neurological phenotypes that include developmental delays, epilepsy, and various movement disorders. Notably, the study emphasizes the lack of genotype-phenotype correlations, suggesting the influence of additional genetic and environmental factors on clinical presentations.
