Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene

2025/03/28 by Angela De Dominicis, Fabrizia Stregapede, Marina Trivisano +8 · 1 voice
Biochemistry, Genetics and Molecular Biology · #RNA regulation and disease #RNA and protein synthesis mechanisms #RNA Research and Splicing

paper · pdf · doi:10.1111/epi.18385

openalex created_date 2025/03/28 · openalex publication_date 2025/03/28 · openalex updated_date 2026/07/15

Abstract

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

Discussions

• Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene doi.org/10.1111/epi.... #epilepsy #ILAE #epilepsia #POLR3B #Developmentalandepilepticencephal [bsky, 0 points, 0 comments]

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