[en] In summary, we have concerns about the validity of USP25 as a new epilepsy gene, since, in our opinion – as the data are presented and as we have outlined above – the authors’ conclusions are not based on best practices in the field. Accordingly, the authors' conclusion should be further validated in a larger cohort, with careful consideration of study design for the analysis of rare variants and their functional validation.
Research center :
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Precision for document type :
Critical notes/Edition
Disciplines :
Neurology Genetics & genetic processes
Author, co-author :
Erfanian Omidvar, Maryam ; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany ; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux 4367, Luxembourg
Murrell, Jill R; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA
Prentice, Anna J; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA ; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA ; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA
Helbig, Ingo ; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA ; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA ; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA ; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, 19104, USA ; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, 24105, Kiel, Germany ; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, 24105, Kiel, Germany
Lerche, Holger ; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany
FNR16394868 - MechEpi-2 - Epileptogenesis Of Genetic Epilepsies, 2021 (01/01/2022-31/12/2024) - Alexander Skupin
Funding text :
The Epi25 project is part of the Centers for Common Disease Genomics (CCDG) program, which has been funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung, and Blood Institute (NHLBI). CCDG-funded Epi25 research activities at the Broad Institute, including genomic data generation in the Broad Genomics Platform, have been supported by NHGRI grant UM1 HG008895. Also, the Genome Sequencing Program efforts have been supported by NHGRI grant 5U01HG009088-02. The presented content is solely the authors' responsibility and does not necessarily represent the official views of the National Institutes of Health. Supplemental Epi25 phenotyping received funding from “Epi25 Clinical Phenotyping R03” National Institutes of Health (1R03NS108145-01). The work in this manuscript was supported by the Research Unit FOR-2715 of the German Research Foundation and the Luxembourg Fond National de la Recherche (grants DFG LE1030/16-2 to HL and FNR INTER/DFG/21/16394868 MechEPI2 to PM).
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