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Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Autor: Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Rodriguez Bey G; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15213, USA., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Patil SJ; Division of Medical Genetics, Narayana Health-Mazumdar Shaw Medical Center, Narayana Health, Bangalore 560099, India., Kekatpure M; Department of Neurology, Division of Pediatric Neurology, Narayana Health-Mazumdar Shaw Medical Center, Narayana Health, Bangalore 560099, India., Afenjar A; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Unit of Molecular Genetics, Trousseau Hospital, Department of Genetics, APHP Sorbonne University, Paris 75012, France., Qebibo L; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Unit of Molecular Genetics, Trousseau Hospital, Department of Genetics, APHP Sorbonne University, Paris 75012, France.; Developmental Brain Disorders Laboratory, Imagine Institute, Paris 75015, France., Burglen L; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Unit of Molecular Genetics, Trousseau Hospital, Department of Genetics, APHP Sorbonne University, Paris 75012, France.; Developmental Brain Disorders Laboratory, Imagine Institute, Paris 75015, France., Tomoum H; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo 11591, Egypt., Demurger F; Department of Clinical Genetics, Vannes Hospital, Vannes 56017, France., Duborg C; Service de Génétique Moléculaire, CHU Rennes, Hôpital Sud, CLAD Ouest, Rennes 40770, France., Siddiqui S; Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad 500034, India., Tsan YC; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Abdullah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi, Rawalpindi 46300, Pakistan., Ali Z; Centre for Biotechnology and Microbiology, University of Swat, Charbagh, Swat, Khyber Pakhtunkhwa 19120, Pakistan., Saadi SM; Human Molecular Genetics Laboratory, NIBGE-PIEAS, Faisalabad 61010, Pakistan., Baig SM; Faculty of Life Sciences, Health Services Academy, Park Road, Islamabad 44000, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi 74800, Pakistan., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Padiath QS; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15213, USA.; Department of Neurobiology, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Sep 18. Date of Electronic Publication: 2024 Sep 18.