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… Click to show full 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 a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation and the details of the associated epilepsy and movement disorders.
Keywords:
associated nus1;
neurologic phenotypes;
nus1 pathogenic;
spectrum neurologic;
phenotypes associated;
pathogenic variants
Journal Title: Annals of Neurology
Year Published: 2025
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Journal Title: Annals of Neurology
Year Published: 2025
Link to full text (if available)
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recommendations!