{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T11:03:00Z","timestamp":1789729380231,"version":"4.0.1"},"reference-count":21,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:00:00Z","timestamp":1789689600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:00:00Z","timestamp":1789689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP2040880"],"award-info":[{"award-number":["APP2040880"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1196637"],"award-info":[{"award-number":["APP1196637"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1195236"],"award-info":[{"award-number":["APP1195236"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP2039586"],"award-info":[{"award-number":["APP2039586"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP2010562"],"award-info":[{"award-number":["APP2010562"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1091593"],"award-info":[{"award-number":["APP1091593"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K23NS121520"],"award-info":[{"award-number":["K23NS121520"]}],"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"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>SLC7A6OS<\/jats:italic>\n                      c.191A&gt;G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A&gt;G variant, first discovered in two families from T\u00fcrkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      We sought to refine the\n                      <jats:italic>SLC7A6OS<\/jats:italic>\n                      \u2010PME phenotype and determine whether all families inherited the variant from the same common ancestor.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical and genotyping data were obtained from all five families. Haplotype analysis using single nucleotide polymorphism arrays to investigate a possible common ancestor was performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Shared haplotypes suggest all five families inherited the\n                      <jats:italic>SLC7A6OS<\/jats:italic>\n                      variant from a common ancestor approximately 1100\u2009years ago. Subsequent dating estimates were consistent with migration patterns between the eastern Mediterranean, Iberia, and Puerto Rico.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our findings strengthen the previous evidence for\n                      <jats:italic>SLC7A6OS<\/jats:italic>\n                      as a cause of PME and highlight a founder effect in regions with migratory links to Iberia. \u00a9 2026 The Author(s).\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.70516","type":"journal-article","created":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:07:41Z","timestamp":1789726061000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>SLC7A6OS<\/i>\n                    <\/scp>\n                    Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100\u2009Years Ago"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4880-2486","authenticated-orcid":false,"given":"Bronwyn E.","family":"Grinton","sequence":"first","affiliation":[{"name":"The Walter and Eliza Hall Institute of Medical Research  Parkville Victoria Australia"},{"name":"Epilepsy Research Centre, Department of Medicine The University of Melbourne, Austin Health  Heidelberg Victoria Australia"},{"name":"Department of Medical Biology The University of Melbourne  Parkville Victoria 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T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2467-1565","authenticated-orcid":false,"given":"Volkan","family":"Ta\u015fdemir","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculty of Medicine \u0130stanbul University  \u0130stanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7340-1660","authenticated-orcid":false,"given":"Mariam","family":"Hull","sequence":"additional","affiliation":[{"name":"Department of Neurology and Developmental Neurosciences, Texas Children's Hospital Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0137-7080","authenticated-orcid":false,"given":"Krystal","family":"Sully","sequence":"additional","affiliation":[{"name":"Department of Neurology and Developmental Neurosciences, Texas Children's Hospital Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0115-2586","authenticated-orcid":false,"given":"Sara","family":"Cabet","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, University Hospital of Lyon Claude Bernard University Lyon 1  Lyon France"},{"name":"Pathophysiology and Genetics of Neurone and Muscle, NeuroMyoG\u00e8ne Institute University of Lyon, Claude Bernard University Lyon 1  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4014-3113","authenticated-orcid":false,"given":"Anna\u2010Elina","family":"Lehesjoki","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center  Helsinki Finland"},{"name":"Department of Medical and Clinical Genetics, Medicum University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4749-1471","authenticated-orcid":false,"given":"Nerses","family":"Bebek","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculty of Medicine \u0130stanbul University  \u0130stanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5132-0774","authenticated-orcid":false,"given":"Melanie","family":"Bahlo","sequence":"additional","affiliation":[{"name":"The Walter and Eliza Hall Institute of Medical Research  Parkville Victoria Australia"},{"name":"Department of Medical Biology The University of Melbourne  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4580-841X","authenticated-orcid":false,"given":"Samuel F.","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre, Department of Medicine The University of Melbourne, Austin Health  Heidelberg Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7691-9492","authenticated-orcid":false,"given":"Gaetan","family":"Lesca","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, University Hospital of Lyon Claude Bernard University Lyon 1  Lyon France"},{"name":"Genetics Department, Lyon University Hospitals Civil Hospices, Member of ERN EpiCARE Claude Bernard University Lyon 1  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5188-6153","authenticated-orcid":false,"given":"Karen L.","family":"Oliver","sequence":"additional","affiliation":[{"name":"The Walter and Eliza Hall Institute of Medical Research  Parkville Victoria Australia"},{"name":"Epilepsy Research Centre, Department of Medicine The University of Melbourne, Austin Health  Heidelberg Victoria 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