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. |
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| 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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| ISSN: | 2632-1297 |
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| DOI: | 10.1093/braincomms/fcaf433 |
