{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T09:13:11Z","timestamp":1769159591138,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T00:00:00Z","timestamp":1698019200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109549"],"award-info":[{"award-number":["JP23ek0109549"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek01099674"],"award-info":[{"award-number":["JP23ek01099674"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109637"],"award-info":[{"award-number":["JP23ek0109637"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP 20H03641"],"award-info":[{"award-number":["JP 20H03641"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP23H02875"],"award-info":[{"award-number":["JP23H02875"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP20K08236"],"award-info":[{"award-number":["JP20K08236"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP21K06819"],"award-info":[{"award-number":["JP21K06819"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>ATP1A2<\/jats:italic> encodes a subunit of sodium\/potassium\u2010transporting adenosine triphosphatase (Na<jats:sup>+<\/jats:sup>\/K<jats:sup>+<\/jats:sup>\u2010ATPase). Heterozygous pathogenic variants of <jats:italic>ATP1A2<\/jats:italic> cause familial hemiplegic migraine, alternating hemiplegia of childhood, and developmental and epileptic encephalopathy. Biallelic loss\u2010of\u2010function variants in <jats:italic>ATP1A2<\/jats:italic> lead to fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, resulting in fetal death. Here, we describe a patient with compound heterozygous <jats:italic>ATP1A2<\/jats:italic> variants consisting of missense and nonsense variants. He survived after birth with brain malformations and the fetal akinesia\/hypokinesia sequence. We report a novel type of compound heterozygous variant that might extend the disease spectrum of <jats:italic>ATP1A2<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.63453","type":"journal-article","created":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T14:13:45Z","timestamp":1698070425000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel compound heterozygous <scp><i>ATP1A2<\/i><\/scp> variants in a patient with fetal akinesia\/hypokinesia sequence"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5849-008X","authenticated-orcid":false,"given":"Shogo","family":"Furukawa","sequence":"first","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Showa University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiro","family":"Nomura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kawaguchi Municipal Medical Center  Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Sumitomo","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shota","family":"Yoneno","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7941-1774","authenticated-orcid":false,"given":"Mitsuko","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,10,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2022.102758"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2005.03.004"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz272"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1081"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1523\/jneurosci.2909-04.2004"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000127310.11526.fd"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s10194-021-01309-4"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.814"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.01.014"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M211315200"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/0333102411399351"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.4161\/chan.3.2.8085"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M802771200"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl334"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201841"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab052"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.06.003"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63453","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T09:55:01Z","timestamp":1707818101000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63453"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,23]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/ajmg.a.63453"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63453","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,23]]},"assertion":[{"value":"2023-07-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63453"}}