<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.
Authors
- Mary Callaghan (ORCID: https://orcid.org/0000-0001-6413-9157)
- Konrad Platzer (ORCID: https://orcid.org/0000-0001-6127-6308)
- Shelagh Joss (ORCID: https://orcid.org/0000-0002-4887-9726)
- Georg Classen
- Geneviève Bernard (ORCID: https://orcid.org/0000-0002-9634-2966)
- Ioana Cutcutache (ORCID: https://orcid.org/0000-0001-5924-653X)
- Constance L. Smith‐Hicks (ORCID: https://orcid.org/0000-0001-8241-9574)
- Sylvia Redon (ORCID: https://orcid.org/0000-0001-7310-1142)
- Andreas Brunklaus (ORCID: https://orcid.org/0000-0002-7728-6903)
- Nicole I. Wolf (ORCID: https://orcid.org/0000-0003-1721-0728)
- Amy McTague (ORCID: https://orcid.org/0000-0002-0334-2909)
- David A. Dyment (ORCID: https://orcid.org/0000-0001-9085-3602)
- Kristen Park (ORCID: https://orcid.org/0000-0001-5527-3047)
- Christian Stockhaus
- Sameer M. Zuberi (ORCID: https://orcid.org/0000-0002-4489-4697)
- Grace Yoon (ORCID: https://orcid.org/0000-0002-3450-3293)
- Julian Charles Knight (ORCID: https://orcid.org/0000-0002-0377-5536)
- Daniel Stobo
- Jean‐Madeleine de Sainte Agathe (ORCID: https://orcid.org/0000-0002-7753-8226)
- Michael Marble
- Julie S. Cohen (ORCID: https://orcid.org/0000-0003-1545-0293)
- Cyril Mignot (ORCID: https://orcid.org/0000-0002-3462-3463)
- James J. Reese
- Emma Wakeling (ORCID: https://orcid.org/0000-0001-5712-0044)
- Margarita Sáenz (ORCID: https://orcid.org/0000-0002-8782-8059)
- Matthew Osmond (ORCID: https://orcid.org/0000-0002-5886-873X)
- Joseph D. Symonds (ORCID: https://orcid.org/0000-0002-2141-4216)
- Marie‐Laure Vuillaume (ORCID: https://orcid.org/0000-0003-1080-972X)
- Matthew Page (ORCID: https://orcid.org/0000-0002-3571-0374)
- Martin Armstrong
- Boris Keren
- Stewart Macleod
- Arnaud Isapof (ORCID: https://orcid.org/0009-0003-7349-9922)
- K. Elliot
- Marc Planes
- Houman Ashrafian
- Kathleen Brown
Institutions
- 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)
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