Nature Communications (Oct 2019)
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
- Mark A. Corbett,
- Thessa Kroes,
- Liana Veneziano,
- Mark F. Bennett,
- Rahel Florian,
- Amy L. Schneider,
- Antonietta Coppola,
- Laura Licchetta,
- Silvana Franceschetti,
- Antonio Suppa,
- Aaron Wenger,
- Davide Mei,
- Manuela Pendziwiat,
- Sabine Kaya,
- Massimo Delledonne,
- Rachel Straussberg,
- Luciano Xumerle,
- Brigid Regan,
- Douglas Crompton,
- Anne-Fleur van Rootselaar,
- Anthony Correll,
- Rachael Catford,
- Francesca Bisulli,
- Shreyasee Chakraborty,
- Sara Baldassari,
- Paolo Tinuper,
- Kirston Barton,
- Shaun Carswell,
- Martin Smith,
- Alfredo Berardelli,
- Renee Carroll,
- Alison Gardner,
- Kathryn L. Friend,
- Ilan Blatt,
- Michele Iacomino,
- Carlo Di Bonaventura,
- Salvatore Striano,
- Julien Buratti,
- Boris Keren,
- Caroline Nava,
- Sylvie Forlani,
- Gabrielle Rudolf,
- Edouard Hirsch,
- Eric Leguern,
- Pierre Labauge,
- Simona Balestrini,
- Josemir W. Sander,
- Zaid Afawi,
- Ingo Helbig,
- Hiroyuki Ishiura,
- Shoji Tsuji,
- Sanjay M. Sisodiya,
- Giorgio Casari,
- Lynette G. Sadleir,
- Riaan van Coller,
- Marina A. J. Tijssen,
- Karl Martin Klein,
- Arn M. J. M. van den Maagdenberg,
- Federico Zara,
- Renzo Guerrini,
- Samuel F. Berkovic,
- Tommaso Pippucci,
- Laura Canafoglia,
- Melanie Bahlo,
- Pasquale Striano,
- Ingrid E. Scheffer,
- Francesco Brancati,
- Christel Depienne,
- Jozef Gecz
Affiliations
- Mark A. Corbett
- Adelaide Medical School and Robinson Research Institute, University of Adelaide
- Thessa Kroes
- Adelaide Medical School and Robinson Research Institute, University of Adelaide
- Liana Veneziano
- Institute of Translational Pharmacology, National Research Council
- Mark F. Bennett
- Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research
- Rahel Florian
- Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen
- Amy L. Schneider
- Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health
- Antonietta Coppola
- Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University
- Laura Licchetta
- IRCCS Istituto delle Scienze Neurologiche di Bologna
- Silvana Franceschetti
- Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta
- Antonio Suppa
- Department of Human Neurosciences, Sapienza University of Rome, Viale dell’Università, 30
- Aaron Wenger
- Pacific Biosciences
- Davide Mei
- Neuroscience and Neurogenetics Department, Meyer Children’s Hospital
- Manuela Pendziwiat
- Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University
- Sabine Kaya
- Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen
- Massimo Delledonne
- Department of Biotechnology, University of Verona
- Rachel Straussberg
- Institute of Pediatric Neurology, Schneider Children’s Medical Center of Israel
- Luciano Xumerle
- Personal Genomics
- Brigid Regan
- Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health
- Douglas Crompton
- Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health
- Anne-Fleur van Rootselaar
- Amsterdam UMC, University of Amsterdam, Department of Neurology and Clinical Neurophysiology, Amsterdam Neuroscience
- Anthony Correll
- Genetics and Molecular Pathology, SA Pathology
- Rachael Catford
- Genetics and Molecular Pathology, SA Pathology
- Francesca Bisulli
- IRCCS Istituto delle Scienze Neurologiche di Bologna
- Shreyasee Chakraborty
- Pacific Biosciences
- Sara Baldassari
- IRCCS Istituto delle Scienze Neurologiche di Bologna
- Paolo Tinuper
- IRCCS Istituto delle Scienze Neurologiche di Bologna
- Kirston Barton
- Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research
- Shaun Carswell
- Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research
- Martin Smith
- Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research
- Alfredo Berardelli
- Department of Human Neurosciences, Sapienza University of Rome, Viale dell’Università, 30
- Renee Carroll
- Adelaide Medical School and Robinson Research Institute, University of Adelaide
- Alison Gardner
- Adelaide Medical School and Robinson Research Institute, University of Adelaide
- Kathryn L. Friend
- Genetics and Molecular Pathology, SA Pathology
- Ilan Blatt
- Department of Neurology, Sheba Medical Center
- Michele Iacomino
- Laboratory of Neurogenetics, IRCCS Istituto “G. Gaslini”
- Carlo Di Bonaventura
- Department of Human Neurosciences, Sapienza University of Rome, Viale dell’Università, 30
- Salvatore Striano
- Department of Neurology, Federico II University
- Julien Buratti
- AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique
- Boris Keren
- AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique
- Caroline Nava
- INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM
- Sylvie Forlani
- INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM
- Gabrielle Rudolf
- Institut de Génétique et de Biologie Moléculaire et Cellulaire
- Edouard Hirsch
- Department of Neurology, Strasbourg University Hospital
- Eric Leguern
- AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique
- Pierre Labauge
- MS Unit, Montpellier University Hospital
- Simona Balestrini
- Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology
- Josemir W. Sander
- Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology
- Zaid Afawi
- Tel Aviv University Medical School
- Ingo Helbig
- Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University
- Hiroyuki Ishiura
- Department of Neurology, the University of Tokyo Hospital
- Shoji Tsuji
- Department of Neurology, the University of Tokyo Hospital
- Sanjay M. Sisodiya
- Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology
- Giorgio Casari
- TIGEM - Telethon Institute of Genetics and Medicine, Naples, and San Raffaele University
- Lynette G. Sadleir
- Department of Paediatrics and Child Health, University of Otago, Wellington
- Riaan van Coller
- University of Pretoria
- Marina A. J. Tijssen
- Department of Neurology, University of Groningen
- Karl Martin Klein
- Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Goethe University, Frankfurt am Main
- Arn M. J. M. van den Maagdenberg
- Departments of Human Genetics & Neurology, Leiden University Medical Centre
- Federico Zara
- Laboratory of Neurogenetics, IRCCS Istituto “G. Gaslini”
- Renzo Guerrini
- Neuroscience and Neurogenetics Department, Meyer Children’s Hospital
- Samuel F. Berkovic
- Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health
- Tommaso Pippucci
- Medical Genetics Unit, Sant’Orsola-Malpighi University Hospital
- Laura Canafoglia
- Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta
- Melanie Bahlo
- Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research
- Pasquale Striano
- Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “G. Gaslini”
- Ingrid E. Scheffer
- Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health
- Francesco Brancati
- Institute of Translational Pharmacology, National Research Council
- Christel Depienne
- Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen
- Jozef Gecz
- Adelaide Medical School and Robinson Research Institute, University of Adelaide
- DOI
- https://doi.org/10.1038/s41467-019-12671-y
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 10
Abstract
Familial cortical myoclonic tremor (FAME) has so far been mapped to regions on chromosome 2, 3, 5 and 8 and pentameric repeat expansions in SAMD12 were identified as cause of FAME1. Here, Corbett et al. identify ATTTT/ATTTC repeat expansions in intron 1 of STARD7 in individuals with FAME2.”
