{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T09:24:27Z","timestamp":1787563467745,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T00:00:00Z","timestamp":1676505600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012553","name":"Chang Gung Memorial Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012553","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009003","name":"Hotchkiss Brain Institute, University of Calgary","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009003","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Familial adult myoclonic epilepsy (FAME) is an adult\u2010onset neurological disease characterized by cortical tremor, myoclonus, and seizures due to a pentanucleotide repeat expansion: a combination of pathogenic TTTCA expansion associated with a TTTTA repeat in introns of six different genes. Repeat\u2010primed PCR (RP\u2010PCR) is an inexpensive test for expansions at known loci. The analysis of the\n                    <jats:italic>SAMD12<\/jats:italic>\n                    locus revealed that the repeats have different size, configuration, and composition. The TTTCA repeats can be very long (&gt;1000 repeats) but also very short (14 being the shortest identified). Here, we report siblings of European descent with the clinical diagnosis of FAME yet a negative RP\u2010PCR test. Using short\u2010read genome sequencing, we identified the pentanucleotide expansion in intron 4 of\n                    <jats:italic>SAMD12<\/jats:italic>\n                    , which was confirmed by CRIPSR\u2010Cas9\u2010mediated enrichment and long\u2010read sequencing to be of (TTTTA)\n                    <jats:sub>~879<\/jats:sub>\n                    (TTTCA)\n                    <jats:sub>3<\/jats:sub>\n                    (TTTTA)\n                    <jats:sub>7<\/jats:sub>\n                    (TTTCA)\n                    <jats:sub>7<\/jats:sub>\n                    configuration. Our finding is the first to associate the\n                    <jats:italic>SAMD12<\/jats:italic>\n                    locus in European patients with FAME and currently represents the shortest identified TTTCA expansion. Our results suggest that the\n                    <jats:italic>SAMD12<\/jats:italic>\n                    locus should be tested in patients with suspected FAME independent of ethnicity. Furthermore, RP\u2010PCR may miss the underlying mutation, and genome sequencing may be needed to confirm the pathogenic repeat.\n                  <\/jats:p>","DOI":"10.1002\/epi4.12702","type":"journal-article","created":{"date-parts":[[2023,2,5]],"date-time":"2023-02-05T20:13:53Z","timestamp":1675628033000},"page":"659-665","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["A novel FAME1 repeat configuration in a European family identified using a combined genomics approach"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3392-5363","authenticated-orcid":false,"given":"Tatiana","family":"Maroilley","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4570-5712","authenticated-orcid":false,"given":"Meng\u2010Han","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Neurology and Medical Research Kaohsiung Chang Gung Memorial Hospital  Kaohsiung Taiwan"},{"name":"School of Medicine, College of Medicine, Taoyuan Chang Gung University  Taoyuan City Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rumika","family":"Mascarenhas","sequence":"additional","affiliation":[{"name":"Alberta Children's Hospital Research Institute University of Calgary  Calgary Alberta Canada"},{"name":"Department of Clinical Neurosciences University of Calgary  Calgary Alberta Canada"},{"name":"Hotchkiss Brain Institute University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Diao","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Khanbabaei","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Kaya","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen University of Duisburg\u2010Essen  Essen Germany"}],"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 of Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4472-8584","authenticated-orcid":false,"given":"Maja","family":"Tarailo\u2010Graovac","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6654-1665","authenticated-orcid":false,"given":"Karl Martin","family":"Klein","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary  Calgary Alberta Canada"},{"name":"Department of Clinical Neurosciences University of Calgary  Calgary Alberta Canada"},{"name":"Hotchkiss Brain Institute University of Calgary  Calgary Alberta Canada"},{"name":"Department of Community Health Sciences University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,2,16]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.10.1561"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1515\/medgen-2021-2100"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0067-2"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12763-9"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz267"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12671-y"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab021"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0606-z"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00729-1"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-020-02017-z"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.815210"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-97764-9"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btx165"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.225672.117"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-017-0479-0"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.06.006"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0013-4694(92)90027-F"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.584"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2015.12.038"}],"container-title":["Epilepsia 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