<i>POLR3B</i> is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia

POLR3B is a novel genetic developmental and epileptic encephalopathy (DEE) in which EMAtS is the predominant epilepsy phenotype. Ataxia, neuropathy, and hypertonia may be variously observed in these patients.

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Publication Details

Journal
Epilepsia
Published
2024-09-30
DOI
https://doi.org/10.1111/epi.18115
Citations
10
Primary Topic
RNA regulation and disease
Type
article
Field-Weighted Citation Impact
2.34
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article

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia

Mary Callaghan, Konrad Platzer, Shelagh Joss, Georg Classen et al.
10 citations
Epilepsia
RNA regulation and disease
2.34
article

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia

Mary Callaghan, Konrad Platzer, Shelagh Joss, Georg Classen, Geneviève Bernard, Ioana Cutcutache, Constance L. Smith‐Hicks, Sylvia Redon, Andreas Brunklaus, Nicole I. Wolf, Amy McTague, David A. Dyment, Kristen Park, Christian Stockhaus, Sameer M. Zuberi, Grace Yoon, Julian Charles Knight, Daniel Stobo, Jean‐Madeleine de Sainte Agathe, Michael Marble, Julie S. Cohen, Cyril Mignot, James J. Reese, Emma Wakeling, Margarita Sáenz, Matthew Osmond, Joseph D. Symonds, Marie‐Laure Vuillaume, Matthew Page, Martin Armstrong, Boris Keren, Stewart Macleod, Arnaud Isapof, K. Elliot, Marc Planes, Houman Ashrafian, Kathleen Brown
article en
10 citations

Abstract

POLR3B is a novel genetic developmental and epileptic encephalopathy (DEE) in which EMAtS is the predominant epilepsy phenotype. Ataxia, neuropathy, and hypertonia may be variously observed in these patients.

EpilepsiaVol. 65(11)
Université de Tours (FR), Kennedy Krieger Institute (US), Presbyterian Healthcare Services (US), Centre for Human Genetics (GB), Johns Hopkins University (US), University of Ottawa (CA), University of New Mexico (US), Children's Hospital of Eastern Ontario (CA), Johns Hopkins Medicine (US), Great Ormond Street Hospital (GB), Great Ormond Street Hospital for Children NHS Foundation Trust (GB), Royal Hospital for Children (GB), Hospital for Sick Children (CA), McGill University Health Centre (CA), Wishaw General Hospital (GB), John Radcliffe Hospital (GB), Sorbonne Université (FR), University of Oxford (GB), Hôpital Armand-Trousseau (FR), Children's Hospital Colorado (US), Assistance Publique – Hôpitaux de Paris (FR), Pitié-Salpêtrière Hospital (FR), UCB Pharma (United Kingdom) (GB), Amsterdam University Medical Centers (NL), Queen Elizabeth University Hospital (GB), University College London (GB), McGill University (CA), University of Glasgow (GB), UCB Pharma (Belgium) (BE), Vrije Universiteit Amsterdam (NL), University of Colorado Denver (US), Leipzig University (DE)
Good health and well-being
Openalex Percentile: Top 11%
RNA regulation and disease
2.34
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