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Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

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Title: Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.
Authors: Bennett MF; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia.; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia., Corbett MA; Robinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia., Kroes T; Robinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia., Canafoglia L; Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Oliver KL; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia., Cameron JM; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia., Sikta N; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia., Munro J; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia., Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia.; Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia., Ibañez K; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Tucci A; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia.; Bladin-Berkovic Comprehensive Epilepsy Program, Department of Neurology, Austin Health, Heidelberg, Victoria 3084, Australia.; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia.; The Florey Institute, Parkville, Victoria 3052, Australia., Courage C; Folkhälsan Research Center, Helsinki 00290, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00014, Finland., Lehesjoki AE; Folkhälsan Research Center, Helsinki 00290, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00014, Finland., Giuliano L; Department of Medical and Surgical Sciences and Advanced Technologies 'G.F. Ingrassia', Section of Neurosciences, University of Catania, Catania 95123, Italy., Didato G; Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Franceschetti S; Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Gecz J; Robinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia 5000, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Bladin-Berkovic Comprehensive Epilepsy Program, Department of Neurology, Austin Health, Heidelberg, Victoria 3084, Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia.
Source: Brain communications [Brain Commun] 2025 Nov 03; Vol. 7 (6), pp. fcaf433. Date of Electronic Publication: 2025 Nov 03 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Bennett+MF%22">Bennett MF</searchLink>; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia.; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Corbett+MA%22">Corbett MA</searchLink>; Robinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia.<br /><searchLink fieldCode="AU" term="%22Kroes+T%22">Kroes T</searchLink>; Robinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia.<br /><searchLink fieldCode="AU" term="%22Canafoglia+L%22">Canafoglia L</searchLink>; Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.<br /><searchLink fieldCode="AU" term="%22Oliver+KL%22">Oliver KL</searchLink>; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Cameron+JM%22">Cameron JM</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Sikta+N%22">Sikta N</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Munro+J%22">Munro J</searchLink>; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Fearnley+LG%22">Fearnley LG</searchLink>; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia.; Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Ibañez+K%22">Ibañez K</searchLink>; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.<br /><searchLink fieldCode="AU" term="%22Tucci+A%22">Tucci A</searchLink>; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.<br /><searchLink fieldCode="AU" term="%22Sisodiya+SM%22">Sisodiya SM</searchLink>; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.<br /><searchLink fieldCode="AU" term="%22Hildebrand+MS%22">Hildebrand MS</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia.; Bladin-Berkovic Comprehensive Epilepsy Program, Department of Neurology, Austin Health, Heidelberg, Victoria 3084, Australia.; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia.; The Florey Institute, Parkville, Victoria 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Courage+C%22">Courage C</searchLink>; Folkhälsan Research Center, Helsinki 00290, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00014, Finland.<br /><searchLink fieldCode="AU" term="%22Lehesjoki+AE%22">Lehesjoki AE</searchLink>; Folkhälsan Research Center, Helsinki 00290, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00014, Finland.<br /><searchLink fieldCode="AU" term="%22Giuliano+L%22">Giuliano L</searchLink>; Department of Medical and Surgical Sciences and Advanced Technologies 'G.F. Ingrassia', Section of Neurosciences, University of Catania, Catania 95123, Italy.<br /><searchLink fieldCode="AU" term="%22Didato+G%22">Didato G</searchLink>; Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.<br /><searchLink fieldCode="AU" term="%22Franceschetti+S%22">Franceschetti S</searchLink>; Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.<br /><searchLink fieldCode="AU" term="%22Gecz+J%22">Gecz J</searchLink>; Robinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Berkovic+SF%22">Berkovic SF</searchLink>; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Bladin-Berkovic Comprehensive Epilepsy Program, Department of Neurology, Austin Health, Heidelberg, Victoria 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Bahlo+M%22">Bahlo M</searchLink>; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia.
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  Data: <searchLink fieldCode="JN" term="%22101755125%22">Brain communications</searchLink> [Brain Commun] 2025 Nov 03; Vol. 7 (6), pp. fcaf433. <i>Date of Electronic Publication: </i>2025 Nov 03 (<i>Print Publication: </i>2025).
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