The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
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DOI: 10.1002/ana.27272
Abstract: A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report… read more here.
Keywords: associated nus1; neurologic phenotypes; nus1 pathogenic; spectrum neurologic ... See more keywords