Nature Communications (Oct 2019)
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
- Rahel T. Florian,
- Florian Kraft,
- Elsa Leitão,
- Sabine Kaya,
- Stephan Klebe,
- Eloi Magnin,
- Anne-Fleur van Rootselaar,
- Julien Buratti,
- Theresa Kühnel,
- Christopher Schröder,
- Sebastian Giesselmann,
- Nikolai Tschernoster,
- Janine Altmueller,
- Anaide Lamiral,
- Boris Keren,
- Caroline Nava,
- Delphine Bouteiller,
- Sylvie Forlani,
- Ludmila Jornea,
- Regina Kubica,
- Tao Ye,
- Damien Plassard,
- Bernard Jost,
- Vincent Meyer,
- Jean-François Deleuze,
- Yannick Delpu,
- Mario D. M. Avarello,
- Lisanne S. Vijfhuizen,
- Gabrielle Rudolf,
- Edouard Hirsch,
- Thessa Kroes,
- Philipp S. Reif,
- Felix Rosenow,
- Christos Ganos,
- Marie Vidailhet,
- Lionel Thivard,
- Alexandre Mathieu,
- Thomas Bourgeron,
- Ingo Kurth,
- Haloom Rafehi,
- Laura Steenpass,
- Bernhard Horsthemke,
- FAME consortium,
- Eric LeGuern,
- Karl Martin Klein,
- Pierre Labauge,
- Mark F. Bennett,
- Melanie Bahlo,
- Jozef Gecz,
- Mark A. Corbett,
- Marina A. J. Tijssen,
- Arn M. J. M. van den Maagdenberg,
- Christel Depienne
Affiliations
- Rahel T. Florian
- Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen
- Florian Kraft
- Institute of Human Genetics, Medical Faculty, RWTH Aachen University
- Elsa Leitão
- Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen
- Sabine Kaya
- Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen
- Stephan Klebe
- Department of Neurology, Universitätsklinikum Essen, Universität Duisburg-Essen
- Eloi Magnin
- Department of Neurology, CHU Jean Minjoz
- Anne-Fleur van Rootselaar
- Departments of Neurology and Clinical Neurophysiology, Amsterdam UMC, University of Amsterdam
- Julien Buratti
- AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique
- Theresa Kühnel
- Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen
- Christopher Schröder
- Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen
- Sebastian Giesselmann
- Institute of Human Genetics, Medical Faculty, RWTH Aachen University
- Nikolai Tschernoster
- Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), University of Cologne
- Janine Altmueller
- Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), University of Cologne
- Anaide Lamiral
- Department of Neurology, CHU Jean Minjoz
- Boris Keren
- AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique
- Caroline Nava
- AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique
- Delphine Bouteiller
- Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225
- Sylvie Forlani
- Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225
- Ludmila Jornea
- Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225
- Regina Kubica
- Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen
- Tao Ye
- IGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg
- Damien Plassard
- IGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg
- Bernard Jost
- IGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg
- Vincent Meyer
- Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay
- Jean-François Deleuze
- Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay
- Yannick Delpu
- Genomic Vision, 80 Rue des Meuniers
- Mario D. M. Avarello
- Genomic Vision, 80 Rue des Meuniers
- Lisanne S. Vijfhuizen
- Department of Human Genetics, Leiden University Medical Center
- Gabrielle Rudolf
- IGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg
- Edouard Hirsch
- Department of Neurology-centre de référence des epilepsies rares, University Hospital of Strasbourg
- Thessa Kroes
- School of Biological Sciences, School of Medicine and Robinson Research Institute, The University of Adelaide
- Philipp S. Reif
- Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University and LOEWE Center for Personalized Translational Epilepsy Research (CePTER)
- Felix Rosenow
- Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University and LOEWE Center for Personalized Translational Epilepsy Research (CePTER)
- Christos Ganos
- Department of Neurology, Charité University Medicine Berlin
- Marie Vidailhet
- Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225
- Lionel Thivard
- APHP, Hôpital Pitié-Salpêtrière, Département de Neurologie
- Alexandre Mathieu
- Human Genetics and Cognitive Functions, Pasteur Institute, UMR3571 CNRS, Université de Paris
- Thomas Bourgeron
- Human Genetics and Cognitive Functions, Pasteur Institute, UMR3571 CNRS, Université de Paris
- Ingo Kurth
- Institute of Human Genetics, Medical Faculty, RWTH Aachen University
- Haloom Rafehi
- Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research
- Laura Steenpass
- Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen
- Bernhard Horsthemke
- Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen
- FAME consortium
- Eric LeGuern
- AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique
- Karl Martin Klein
- Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University and LOEWE Center for Personalized Translational Epilepsy Research (CePTER)
- Pierre Labauge
- Department of Neurology, Gui de Chauliac University Hospital
- Mark F. Bennett
- Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research
- Melanie Bahlo
- Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research
- Jozef Gecz
- School of Biological Sciences, School of Medicine and Robinson Research Institute, The University of Adelaide
- Mark A. Corbett
- School of Biological Sciences, School of Medicine and Robinson Research Institute, The University of Adelaide
- Marina A. J. Tijssen
- Department of Neurology, University Medical Center Groningen, University of Groningen
- Arn M. J. M. van den Maagdenberg
- Department of Human Genetics, Leiden University Medical Center
- Christel Depienne
- Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen
- DOI
- https://doi.org/10.1038/s41467-019-12763-9
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 14
Abstract
Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 as a cause of FAME3.
