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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

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Title: Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Authors: Florian RT; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany., Kraft F; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, 52062, Aachen, Germany., Leitão E; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany., Kaya S; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany., Klebe S; Department of Neurology, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany., Magnin E; Department of Neurology, CHU Jean Minjoz, 25000, Besançon, France., van Rootselaar AF; Departments of Neurology and Clinical Neurophysiology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands., Buratti J; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France., Kühnel T; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany., Schröder C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany., Giesselmann S; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, 52062, Aachen, Germany., Tschernoster N; Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Weyertal 115b, 50931, Cologne, Germany., Altmueller J; Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Weyertal 115b, 50931, Cologne, Germany., Lamiral A; Department of Neurology, CHU Jean Minjoz, 25000, Besançon, France., Keren B; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France., Nava C; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Bouteiller D; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Forlani S; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Jornea L; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Kubica R; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany., Ye T; IGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg, 1 Rue Laurent Fries, 67400, Illkirch-Graffenstaden, France., Plassard D; IGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg, 1 Rue Laurent Fries, 67400, Illkirch-Graffenstaden, France., Jost B; IGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg, 1 Rue Laurent Fries, 67400, Illkirch-Graffenstaden, France., Meyer V; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France., Delpu Y; Genomic Vision, 80 Rue des Meuniers, 92220, Bagneux, France., Avarello MDM; Genomic Vision, 80 Rue des Meuniers, 92220, Bagneux, France., Vijfhuizen LS; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands., Rudolf G; IGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg, 1 Rue Laurent Fries, 67400, Illkirch-Graffenstaden, France.; Department of Neurology-centre de référence des epilepsies rares, University Hospital of Strasbourg, 1 Avenue Molière, 67200, Strasbourg, France., Hirsch E; Department of Neurology-centre de référence des epilepsies rares, University Hospital of Strasbourg, 1 Avenue Molière, 67200, Strasbourg, France., Kroes T; School of Biological Sciences, School of Medicine and Robinson Research Institute, The University of Adelaide, Adelaide, 5005, SA, Australia., Reif PS; Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), 60323, Frankfurt am Main, Germany.; Department of Neurology, Epilepsy Center Hessen, Philipps University, 35037, Marburg, Germany., Rosenow F; Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), 60323, Frankfurt am Main, Germany.; Department of Neurology, Epilepsy Center Hessen, Philipps University, 35037, Marburg, Germany., Ganos C; Department of Neurology, Charité University Medicine Berlin, 10117, Berlin, Germany., Vidailhet M; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.; APHP, Hôpital Pitié-Salpêtrière, Département de Neurologie, 75013, Paris, France., Thivard L; APHP, Hôpital Pitié-Salpêtrière, Département de Neurologie, 75013, Paris, France., Mathieu A; Human Genetics and Cognitive Functions, Pasteur Institute, UMR3571 CNRS, Université de Paris, 75015, Paris, France., Bourgeron T; Human Genetics and Cognitive Functions, Pasteur Institute, UMR3571 CNRS, Université de Paris, 75015, Paris, France., Kurth I; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, 52062, Aachen, Germany., Rafehi H; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, 3010, VIC, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia., Steenpass L; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany., Horsthemke B; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany., LeGuern E; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Klein KM; Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), 60323, Frankfurt am Main, Germany.; Department of Neurology, Epilepsy Center Hessen, Philipps University, 35037, Marburg, Germany.; Departments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, 2500 University Dr NW, Calgary, AB, T2N 1N4, Canada., Labauge P; Department of Neurology, Gui de Chauliac University Hospital, 34295, Montpellier, France., Bennett MF; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, 3010, VIC, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, 3010, VIC, Australia., Gecz J; School of Biological Sciences, School of Medicine and Robinson Research Institute, The University of Adelaide, Adelaide, 5005, SA, Australia.; South Australian Health and Medical Research Institute, The University of Adelaide, Adelaide, 5005, SA, Australia., Corbett MA; School of Biological Sciences, School of Medicine and Robinson Research Institute, The University of Adelaide, Adelaide, 5005, SA, Australia., Tijssen MAJ; Department of Neurology, University Medical Center Groningen, University of Groningen, 9700, AB, Groningen, the Netherlands., van den Maagdenberg AMJM; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands.; Department of Neurology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany. christel.depienne@uni-due.de.; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France. christel.depienne@uni-due.de.; IGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg, 1 Rue Laurent Fries, 67400, Illkirch-Graffenstaden, France. christel.depienne@uni-due.de.
Corporate Authors: FAME consortium
Source: Nature communications [Nat Commun] 2019 Oct 29; Vol. 10 (1), pp. 4919. Date of Electronic Publication: 2019 Oct 29.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2041-1723
DOI:10.1038/s41467-019-12763-9