{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T21:41:35Z","timestamp":1789767695716,"version":"4.0.1"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T00:00:00Z","timestamp":1604534400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:p>Exome sequencing was performed in 2 unrelated families with progressive myoclonus epilepsy. Affected individuals from both families shared a rare, homozygous c.191A\u2009&gt;\u2009G variant affecting a splice site in <jats:italic>SLC7A6OS<\/jats:italic>. Analysis of cDNA from lymphoblastoid cells demonstrated partial splice site abolition and the creation of an abnormal isoform. Quantitative reverse transcriptase polymerase chain reaction and Western blot showed a marked reduction of protein expression. Haplotype analysis identified a ~0.85cM shared genomic region on chromosome 16q encompassing the c.191A\u2009&gt;\u2009G variant, consistent with a distant ancestor common to both families. Our results suggest that biallelic loss\u2010of\u2010function variants in <jats:italic>SLC7A6OS<\/jats:italic> are a novel genetic cause of progressive myoclonus epilepsy. ANN NEUROL 2021;89:402\u2013407<\/jats:p>","DOI":"10.1002\/ana.25941","type":"journal-article","created":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T11:46:58Z","timestamp":1603280818000},"page":"402-407","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of <scp><i>SLC7A6OS<\/i><\/scp>"],"prefix":"10.1002","volume":"89","author":[{"given":"Laure","family":"Mazzola","sequence":"first","affiliation":[{"name":"Neurology Department Saint\u2010\u00c9tienne University Hospital Center  Saint\u2010\u00c9tienne France"},{"name":"Lyon Neuroscience Research Center  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen L.","family":"Oliver","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre, Department of Medicine University of Melbourne, Austin Health  Heidelberg Victoria 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