{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:41:53Z","timestamp":1792204913366,"version":"4.4.0"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T00:00:00Z","timestamp":1700611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010724","name":"Health Systems Research Institute","doi-asserted-by":"publisher","award":["65\u2010040"],"award-info":[{"award-number":["65\u2010040"]}],"id":[{"id":"10.13039\/501100010724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U01HG007044 administered by the National Human Gen"],"award-info":[{"award-number":["U01HG007044 administered by the National Human Gen"]}],"id":[{"id":"10.13039\/100000065","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":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by pentanucleotide repeat expansions in different genes, have been reported. However, several other BAFME cases remain with no molecular diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>We aim to characterize clinical features and identify the mutation causing BAFME in a large Malian family with 10 affected members.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Long\u2010read whole genome sequencing, repeat\u2010primed polymerase chain reaction and RNA studies were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the\n                      <jats:italic>RAI1<\/jats:italic>\n                      gene that co\u2010segregated with disease status in this family. TTTCA repeats were absent in 200 Malian controls. In the affected individuals, we found a read with only nine TTTCA repeat units and somatic instability. The\n                      <jats:italic>RAI1<\/jats:italic>\n                      repeat expansions cause the only BAFME type in which the disease\u2010causing repeats are in a gene associated with a monogenic disorder in the haploinsufficiency state (ie, Smith\u2010Magenis syndrome [SMS]). Nevertheless, none of the Malian patients exhibited symptoms related to SMS. Moreover, leukocyte RNA levels of\n                      <jats:italic>RAI1<\/jats:italic>\n                      in six Malian BAFME patients were no different from controls.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These findings establish a new type of BAFME, BAFME8, in an African family and suggest that haploinsufficiency is unlikely to be the main pathomechanism of BAFME. \u00a9 2023 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.29654","type":"journal-article","created":{"date-parts":[[2023,11,24]],"date-time":"2023-11-24T18:39:44Z","timestamp":1700851184000},"page":"164-172","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Pentanucleotide Repeat Insertions in\n                    <scp>\n                      <i>RAI1<\/i>\n                    <\/scp>\n                    Cause Benign Adult Familial Myoclonic Epilepsy Type 8"],"prefix":"10.1002","volume":"39","author":[{"given":"Patra","family":"Yeetong","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Department of Botany, Faculty of Science Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed E.","family":"Demb\u00e9l\u00e9","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie USTTB  Bamako Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monnat","family":"Pongpanich","sequence":"additional","affiliation":[{"name":"Department of Mathematics and Computer Science, Faculty of Science Chulalongkorn University  Bangkok Thailand"},{"name":"Omics Sciences and Bioinformatics Center, Faculty of Science Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lassana","family":"Ciss\u00e9","sequence":"additional","affiliation":[{"name":"Service de Neurologie Centre Hospitalier Universitaire du Point G  Bamako Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chalurmpon","family":"Srichomthong","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine Chulalongkorn 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Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salia","family":"Bamba","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie USTTB  Bamako Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdoulaye","family":"Yalcouy\u00e9","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie USTTB  Bamako Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salimata","family":"Diarra","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie USTTB  Bamako Mali"},{"name":"Pediatric Genomics Discovery Program, Department of Pediatrics Yale University  New Haven Connecticut USA"},{"name":"Neurogenetics Branch, NINDS, NIH  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel Ephrata","family":"Mefoung","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie USTTB  Bamako Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Supphakorn","family":"Rakwongkhachon","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oumou","family":"Traor\u00e9","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie USTTB  Bamako Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siraprapa","family":"Tongkobpetch","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department 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