{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T15:05:23Z","timestamp":1783955123228,"version":"3.55.0"},"reference-count":40,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T00:00:00Z","timestamp":1774310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T00:00:00Z","timestamp":1774310400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Benign adult familial myoclonic epilepsy (BAFME) is a rare autosomal dominant disorder characterized by tremor and myoclonic seizures. To date, seven genetic subtypes have been identified, all caused by noncoding pentanucleotide repeat expansions\u2014typically TTTTA expansions with additional TTTCA insertions\u2014across distinct loci. Although aberrant repeat expansions are a shared hallmark, it remains unclear whether different BAFME subtypes exhibit similar patterns of repeat length variability and inheritance. We aimed to characterize pentanucleotide repeat structure, repeat length variability across reads, and intergenerational transmission patterns across multiple BAFME subtypes, and to determine whether these mutational dynamics differ among BAFME1, BAFME4, and BAFME8.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We performed whole\u2010genome long\u2010read sequencing and targeted adaptive sampling long\u2010read sequencing on 18 affected individuals from three multigenerational families with BAFME1 (\n                      <jats:italic>SAMD12<\/jats:italic>\n                      ), BAFME4 (\n                      <jats:italic>YEATS2<\/jats:italic>\n                      ), and BAFME8 (\n                      <jats:italic>RAI1<\/jats:italic>\n                      ). Repeat structure, repeat length variability across reads, and intergenerational transmission dynamics were analyzed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Across patients, 7\u201333 long reads containing expanded repeats were identified. Several differences in repeat length distributions across reads were observed among the families studied. The BAFME1 family showed comparatively narrower distributions, whereas broader variability was observed in the BAFME4 and BAFME8 families. In BAFME1 and BAFME8, TTTCA repeat length showed a positive correlation with age, consistent with age\u2010associated increases in repeat length variability across reads. Parent\u2010to\u2010offspring transmissions were often associated with increases in repeat length, most prominently in BAFME8. Sibling comparisons further indicated higher variability in TTTCA than in TTTTA repeats.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>Our study demonstrates distinct patterns of repeat length variability and inheritance across the families analyzed. These findings suggest that the genomic context of pentanucleotide expansions may influence repeat behavior and could contribute to phenotypic variability in BAFME.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/epi.70213","type":"journal-article","created":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T14:55:37Z","timestamp":1774364137000},"page":"3791-3802","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pentanucleotide repeat instability and transmission in benign adult familial myoclonic epilepsy types 1, 4, and 8"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7852-1592","authenticated-orcid":false,"given":"Supphakorn","family":"Rakwongkhachon","sequence":"first","affiliation":[{"name":"Interdisciplinary Program of Biomedical Sciences, Graduate School Chulalongkorn University  Bangkok Thailand"},{"name":"Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genomics Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3228-3351","authenticated-orcid":false,"given":"Monnat","family":"Pongpanich","sequence":"additional","affiliation":[{"name":"Department of Mathematics and Computer Science, Faculty of Science Chulalongkorn University  Bangkok Thailand"},{"name":"Center of Excellence for Cancer and Inflammation Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3227-4957","authenticated-orcid":false,"given":"Chalurmpon","family":"Srichomthong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genomics Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0815-6539","authenticated-orcid":false,"given":"Adjima","family":"Assawapitaksakul","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genomics Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siraprapa","family":"Tongkobpetch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genomics Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanokwan","family":"Santawong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genomics Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2494-6752","authenticated-orcid":false,"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1074-0160","authenticated-orcid":false,"given":"Chaipat","family":"Chunharas","sequence":"additional","affiliation":[{"name":"Center of Excellence in Cognitive Clinical and Computational Neuroscience, Department of Internal Medicine, Faculty of Medicine Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5921-7832","authenticated-orcid":false,"given":"Guida","family":"Landour\u00e9","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie University of Sciences, Techniques, and Technology of Bamako  Bamako Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8860-7904","authenticated-orcid":false,"given":"Patra","family":"Yeetong","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Botany, Faculty of Science Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1856-0589","authenticated-orcid":false,"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genomics Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,24]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.2005.00385.x"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20413"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.434"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.10.1561"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17519"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0067-2"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12671-y"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12763-9"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz267"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29654"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt068"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy160"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27832"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13848"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105484"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0606-z"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.00068"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcaa214"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab021"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2021.02.026"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-00855-0"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00729-1"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12450"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12702"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.12.2459"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181e396a8"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12013-014-9843-5"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.156283"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004709"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.30192"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2013-14-6-405"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-020-0236-x"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2024.03.005"},{"key":"e_1_2_12_35_1","unstructured":"Technologies ON Dorado Oxford Nanopore Technologies.2025."},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btad311"},{"key":"e_1_2_12_37_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0257521"},{"key":"e_1_2_12_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-024-10440-w"},{"key":"e_1_2_12_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-024-02698-7"},{"key":"e_1_2_12_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-024-03424-6"},{"key":"e_1_2_12_41_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21020457"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi.70213","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/epi.70213","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi.70213","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T14:15:17Z","timestamp":1783952117000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi.70213"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,24]]},"references-count":40,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1002\/epi.70213"],"URL":"https:\/\/doi.org\/10.1002\/epi.70213","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,24]]},"assertion":[{"value":"2025-11-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}