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.
Authors
- Cinzia Rinaldo (ORCID: https://orcid.org/0000-0001-6124-762X)
- Ian D. Krantz (ORCID: https://orcid.org/0000-0003-2442-1128)
- Maddalena Di Nardo (ORCID: https://orcid.org/0000-0002-1481-2101)
- Íñigo Marcos‐Alcalde (ORCID: https://orcid.org/0000-0002-0674-6423)
- Francesca Sardina (ORCID: https://orcid.org/0000-0001-6474-2079)
- Maria Michela Pallotta (ORCID: https://orcid.org/0000-0001-7731-8621)
- Paulino Gómez‐Puertas (ORCID: https://orcid.org/0000-0003-3131-729X)
- Antonio Musio
Institutions
- Istituto di Scienza e Tecnologie dell'Informazione "Alessandro Faedo" (IT)
- Hofstra University (US)
- Institute of Molecular Biology and Pathology (IT)
- Cohen Children's Medical Center (US)
- Institute of Neurobiology and Molecular Medicine (IT)
- Centro de Biología Molecular Severo Ochoa (ES)
- National Research Council (IT)
- Universidad Autónoma de Madrid (ES)
Publication Details
- Journal
- Epilepsia
- Published
- 2026-03-02
- DOI
- https://doi.org/10.1002/epi.70150
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00