{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T22:31:35Z","timestamp":1787524295160,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T00:00:00Z","timestamp":1744156800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["455314768"],"award-info":[{"award-number":["455314768"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder caused by the same intronic TTTTA\/TTTCA repeat expansion in seven distinct genes. TTTTA\u2010only expansions are benign, whereas those containing TTTCA insertions are pathogenic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>We investigated the genetic basis of dominant cortical myoclonus without seizures in two unrelated families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Repeat\u2010primed polymerase chain reaction (PCR), long\u2010range PCR, and nanopore sequencing were used to detect and characterize expansions at known FAME loci.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel repeat expansion in <jats:italic>MARCHF6<\/jats:italic>, comprising 388 to 454 elongated TTTTA repeats and 5 to 11 TTTCA repeats at the 3\u2032\u2010terminus, segregating with cortical myoclonus in 8 affected individuals. This configuration shows meiotic stability but low\u2010level somatic variability in blood. We observed an inverse correlation between the number of TTTCA repeats and the age at myoclonus onset.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These findings indicate that as little as five TTTCA repeats combined with expanded TTTTA repeats can cause cortical myoclonus without epilepsy, highlighting the potential mechanisms underlying FAME pathophysiology. \u00a9 2025 The Author(s). <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.30192","type":"journal-article","created":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T04:05:00Z","timestamp":1744171500000},"page":"1401-1408","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Repeat Expansions with Small <scp>TTTCA<\/scp> Insertions in <scp><i>MARCHF6<\/i><\/scp> Cause Familial Myoclonus without Epilepsy"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0629-3521","authenticated-orcid":false,"given":"Theresa","family":"K\u00fchnel","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Hospital Essen, University Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5051-9714","authenticated-orcid":false,"given":"Elsa","family":"Leit\u00e3o","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Essen, University Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renate","family":"Lunzer","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Medizinische Universit\u00e4t Innsbruck  Innsbruck 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5697-0968","authenticated-orcid":false,"given":"Kelly","family":"Astudillo","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders NYU Langone Health  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-1166-8749","authenticated-orcid":false,"given":"Steven","family":"Frucht","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders NYU Langone Health  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2278-0410","authenticated-orcid":false,"given":"Marion","family":"Simonetta\u2010Moreau","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University Hospital of Toulouse France, NeuroImaging Center, INSERM, UMR1214 Toulouse France, Paul Sabatier Toulouse 3 University  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3126-5493","authenticated-orcid":false,"given":"Eric","family":"Bieth","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Toulouse  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6408-5777","authenticated-orcid":false,"given":"Iris","family":"Unterberger","sequence":"additional","affiliation":[{"name":"Department of Neurology Innsbruck Medical University  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0322-5718","authenticated-orcid":false,"given":"Giulietta Maria","family":"Riboldi","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders NYU Langone Health  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7212-9554","authenticated-orcid":false,"given":"Christel","family":"Depienne","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Essen, University Duisburg\u2010Essen  Essen 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