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December 2025 CLINICAL SPECTRUM OF NUS1-RELATED EPILEPSY AND MOVEMENT DISORDERSIn 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 research surrounding the NUS1 gene and its impact on neurological disorders.
Their recently published study, The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series, covers 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. |
Niccolo Mencacci, MD, PhD, Assistant Professor of Neurology (Movement Disorders) at Northwestern Medicine
Sarah Brooker, MD, PhD, Assistant Professor of Neurology (Movement Disorders) at Northwestern Medicine
Elizabeth Gerard, MD, Associate Professor of Neurology (Epilepsy/Clinical Neurophysiology) at Northwestern Medicine
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