Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in <i>SMC1A</i> ‐related developmental and epileptic encephalopathy

These findings demonstrate that SMC1A-related epileptic encephalopathies are driven by variant-specific molecular mechanisms and highlight the therapeutic promise of ataluren for DEE85. The study supports further development of precision medicine strategies targeting nonsense variants in SMC1A, with potential implications for improving diagnosis, treatment, and quality of life in affected individuals.