Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
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| Title: | Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. |
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| Authors: | Corbett MA; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia., Kroes T; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia., Veneziano L; Institute of Translational Pharmacology, National Research Council, Rome, Italy., Bennett MF; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.; Department of Medical Biology, the University of Melbourne, Melbourne, 3010, VIC, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia., Florian R; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia., Coppola A; Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Napoli, Italy., Licchetta L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Franceschetti S; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE, London, UK., Suppa A; Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.; IRCCS Neuromed, Pozzilli, IS, Italy., Wenger A; Pacific Biosciences, Menlo Park, CA, USA., Mei D; Neuroscience and Neurogenetics Department, Meyer Children's Hospital, Florence, Italy., Pendziwiat M; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany., Kaya S; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Delledonne M; Department of Biotechnology, University of Verona, Strada le Grazie 15, 37134, Verona, Italy., Straussberg R; Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Tel Aviv University Medical School, 69978, Tel Aviv, Israel., Xumerle L; Personal Genomics, Strada le Grazie 15, 37134, Verona, Italy., Regan B; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia., Crompton D; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.; Department of Neurology, Northern Health, Melbourne, VIC, Australia., van Rootselaar AF; Amsterdam UMC, University of Amsterdam, Department of Neurology and Clinical Neurophysiology, Amsterdam Neuroscience, Amsterdam, The Netherlands., Correll A; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Catford R; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Bisulli F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Chakraborty S; Pacific Biosciences, Menlo Park, CA, USA., Baldassari S; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Tinuper P; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Barton K; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia., Carswell S; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia., Smith M; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.; St-Vincent's Clinical School, Faulty of Medicine, UNSW Sydney, Darlinghurst, NSW, 2010, Australia., Berardelli A; Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.; IRCCS Neuromed, Pozzilli, IS, Italy., Carroll R; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia., Gardner A; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia., Friend KL; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Blatt I; Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel., Iacomino M; Laboratory of Neurogenetics, IRCCS Istituto 'G. Gaslini', Genova, Italy., Di Bonaventura C; Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy., Striano S; Department of Neurology, Federico II University, Napoli, Italy., Buratti J; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France., Keren B; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France., Nava C; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France., Forlani S; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France., Rudolf G; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U1258, Illkirch, France.; Université de Strasbourg, Illkirch, France.; Department of Neurology, Strasbourg University Hospital, Strasbourg, France.; Centre National de la Recherche Scientifique, U7104, Illkirch, France., Hirsch E; Department of Neurology, Strasbourg University Hospital, Strasbourg, France., Leguern E; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France.; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France., Labauge P; MS Unit, Montpellier University Hospital, Montpellier, France., Balestrini S; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter, SL9 0RJ, UK., Sander JW; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter, SL9 0RJ, UK., Afawi Z; Tel Aviv University Medical School, 69978, Tel Aviv, Israel., Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.; Division of Neurology Children's Hospital of Philadelphia, Philadelphia, PA, USA., Ishiura H; Department of Neurology, the University of Tokyo Hospital, Tokyo, Japan., Tsuji S; Department of Neurology, the University of Tokyo Hospital, Tokyo, Japan.; Medical Genome Center, the University of Tokyo Hospital, Tokyo, Japan.; International University of Health and Welfare, Chiba, Japan., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter, SL9 0RJ, UK., Casari G; TIGEM - Telethon Institute of Genetics and Medicine, Naples, and San Raffaele University, Milan, Italy., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, Wellington, New Zealand., van Coller R; University of Pretoria, Pretoria, South Africa., Tijssen MAJ; Department of Neurology, University of Groningen, Groningen, The Netherlands., Klein KM; Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Goethe University, Frankfurt am Main, Frankfurt, Germany.; Department of Neurology, Epilepsy Center Hessen, Philipps University, Marburg, 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, Calgary, AB, Canada., van den Maagdenberg AMJM; Departments of Human Genetics & Neurology, Leiden University Medical Centre, Leiden, The Netherlands., Zara F; Laboratory of Neurogenetics, IRCCS Istituto 'G. Gaslini', Genova, Italy., Guerrini R; Neuroscience and Neurogenetics Department, Meyer Children's Hospital, Florence, Italy., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia., Pippucci T; Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy., Canafoglia L; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE, London, UK., Bahlo M; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.; Department of Medical Biology, the University of Melbourne, Melbourne, 3010, VIC, Australia., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'G. Gaslini', Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.; Royal Children's Hospital, Murdoch Children's Research Institute and Florey Institute, Melbourne, VIC, Australia., Brancati F; Institute of Translational Pharmacology, National Research Council, Rome, Italy.; Medical Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy., Depienne C; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, U7104, Illkirch, France., Gecz J; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia. jozef.gecz@adelaide.edu.au.; South Australian Health and Medical Research Institute, Adelaide, 5000, SA, Australia. jozef.gecz@adelaide.edu.au. |
| Source: | Nature communications [Nat Commun] 2019 Oct 29; Vol. 10 (1), pp. 4920. 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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