BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Author:

Donkervoort Sandra1ORCID,Krause Niklas2ORCID,Dergai Mykola3,Yun Pomi1,Koliwer Judith2,Gorokhova Svetlana145ORCID,Geist Hauserman Janelle1ORCID,Cummings Beryl B6,Hu Ying1,Smith Rosemarie7,Uapinyoying Prech18,Ganesh Vijay S69,Ghosh Partha S10,Monaghan Kristin G11,Edassery Seby L12ORCID,Ferle Pia E2,Silverstein Sarah11314,Chao Katherine R6ORCID,Snyder Molly15,Ellingwood Sara7,Bharucha‐Goebel Diana116,Iannaccone Susan T17,Dal Peraro Matteo18,Foley A Reghan1,Savas Jeffrey N12,Bolduc Véronique1ORCID,Fasshauer Dirk3ORCID,Bönnemann Carsten G1,Schwake Michael212ORCID

Affiliation:

1. Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda MD USA

2. Biochemistry III/Faculty of Chemistry Bielefeld University Bielefeld Germany

3. Department of Fundamental Neurosciences University of Lausanne Lausanne Switzerland

4. Service de Génétique Médicale Hôpital de la Timone, APHM Marseille France

5. INSERM, U1251‐MMG Aix‐Marseille Université Marseille France

6. Center for Mendelian Genomics Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA

7. Maine Medical Center Portland ME USA

8. Research for Genetic Medicine Children's National Medical Center Washington DC USA

9. Department of Neurology Brigham & Women's Hospital Harvard Medical School Boston MA USA

10. Department of Neurology Boston Children's Hospital Boston MA USA

11. GeneDx Gaithersburg MD USA

12. Department of Neurology Feinberg School of Medicine Northwestern University Chicago IL USA

13. Rutgers New Jersey School of Medicine Newark NJ USA

14. Undiagnosed Diseases Program National Human Genome Research Institute National Institute of Health Bethesda MD USA

15. Department of Neurology Children's Health Dallas TX USA

16. Division of Neurology Children’s National Medical Center Washington DC USA

17. Division of Pediatric Neurology Departments of Pediatrics, Neurology and Neurotherapeutics University of Texas Southwestern Medical Center Dallas TX USA

18. Institute of Bioengineering School of Life Sciences École Polytechnique Fédérale de Lausanne (EPFL) Lausanne Switzerland

Funder

National Institute of Neurological Disorders and Stroke

Deutsche Forschungsgemeinschaft

Publisher

EMBO

Subject

Molecular Medicine

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