{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T22:34:58Z","timestamp":1791239698713,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T00:00:00Z","timestamp":1643241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81330025"],"award-info":[{"award-number":["81330025"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81500973"],"award-info":[{"award-number":["81500973"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004835","name":"Zhejiang University","doi-asserted-by":"publisher","award":["188020\u2010193810101\/089"],"award-info":[{"award-number":["188020\u2010193810101\/089"]}],"id":[{"id":"10.13039\/501100004835","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":[[2022,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mutations in proline\u2010rich transmembrane protein 2 (\n                      <jats:italic>PRRT2<\/jats:italic>\n                      ) are the major cause of paroxysmal kinesigenic dyskinesia (PKD). We recently reported transmembrane protein 151A (\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      ) mutations caused PKD. Herein, we aimed to conduct phenotypic comparisons of patients with PKD carrying\n                      <jats:italic>PRRT2<\/jats:italic>\n                      variants, carrying\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      variants, and carrying neither the\n                      <jats:italic>PRRT2<\/jats:italic>\n                      nor\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Sanger sequencing of\n                      <jats:italic>PRRT2<\/jats:italic>\n                      and\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      was performed, and phenotypic characteristics were analyzed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In a cohort of 131 PKD probands (108 without\n                      <jats:italic>PRRT2<\/jats:italic>\n                      variants and 23 newly recruited), five novel\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      variants were identified and one (c.647C\u2009&gt;\u2009A) occurred\n                      <jats:italic>de novo<\/jats:italic>\n                      . Together with our previous studies,\n                      <jats:italic>PRRT2<\/jats:italic>\n                      and\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      variants accounted for 34.7% (85\/245) and 6.9% (17\/245) of PKD probands, respectively. Compared with patients carrying\n                      <jats:italic>PRRT2<\/jats:italic>\n                      variants, those with\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      variants tended to exbibit dystonia with shorter durations, have no history of benign infantile epilepsy, and have residual attacks\/aura when treated with carbamazepine\/oxcarbazepine.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Patients with\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      variants have different features from patients with\n                      <jats:italic>PRRT2<\/jats:italic>\n                      variants. \u00a9 2022 International Parkinson and Movement Disorder Society\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.28939","type":"journal-article","created":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T03:11:36Z","timestamp":1643253096000},"page":"608-613","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with\n                    <scp>\n                      <i>PRRT2<\/i>\n                    <\/scp>\n                    and\n                    <scp>\n                      <i>TMEM151A<\/i>\n                    <\/scp>\n                    Variants"],"prefix":"10.1002","volume":"37","author":[{"given":"Yu\u2010Lan","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian\u2010Fu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong\u2010Fu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2106-572X","authenticated-orcid":false,"given":"Zhi\u2010Ying","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.17.7.680"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000147298.05983.50"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr289"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825f06c3"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0038543"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.003"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2011.11.001"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv317"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737175.2019.1648211"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41421-021-00322-w"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31828cf7e1"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002079"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28061"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11684-021-0863-4"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25933"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182661fe3"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/cns.12034"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz195"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2014.02.034"}],"container-title":["Movement 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