Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.
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| Title: | Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene. |
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| Authors: | De Dominicis A; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Stregapede F; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Biomedicine and Prevention, University of Rome 'tor Vergata', Rome, Italy., Trivisano M; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Nicita F; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sartorelli J; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sparascio FP; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Terracciano A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Specchio N; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.; University Hospitals KU Leuven, Leuven, Belgium., Bertini ES; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Colona VL; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Movement Analysis and Robotics Laboratory (MARlab), Research Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. |
| Source: | Epilepsia [Epilepsia] 2025 May; Vol. 66 (5), pp. 1751-1754. Date of Electronic Publication: 2025 Mar 28. |
| Publication Type: | Letter |
| Journal Info: | Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE; In Process |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1528-1167 |
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| DOI: | 10.1111/epi.18385 |
