Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin

This is the first review of <i>NUS1</i> from a PME perspective and the first report describing the exploratory use of metformin as a potential therapeutic intervention. In our case, metformin was introduced simultaneously with a change in antipsychotic treatment, so its specific clinical impact cannot be determined. Additional studies are needed to improve understanding of the benefits of using metformin and other therapeutic strategies in <i>NUS1</i>-related disorders. Further studies are essential to clarify the full phenotypic spectrum associated with <i>NUS1</i> variants and to improve our understanding of how specific variant types and locations contribute to clinical presentation.