{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T23:26:20Z","timestamp":1792797980352,"version":"4.5.0"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,2,5]],"date-time":"2015-02-05T00:00:00Z","timestamp":1423094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institute of Neurologic Disorders and Stroke (NINDS)","id":[{"id":"https:\/\/ror.org\/01s5ya894","id-type":"ROR","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["K08NS078054"],"award-info":[{"award-number":["K08NS078054"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["K02NS072162"],"award-info":[{"award-number":["K02NS072162"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R21NS081558"],"award-info":[{"award-number":["R21NS081558"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["and R01NS046616"],"award-info":[{"award-number":["and R01NS046616"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Mutations of\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\n                        1A3\n                      <\/jats:italic>\n                      have been associated with rapid onset dystonia\u2010parkinsonism and more recently with alternating hemiplegia of childhood. Here we report one child with catastrophic early life epilepsy and shortened survival, and another with epilepsy, episodic prolonged apnea, postnatal microcephaly, and severe developmental disability. Novel heterozygous mutations (p.Gly358Val and p.Ile363Asn) were\u00a0identified in\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\n                        1A3\n                      <\/jats:italic>\n                      in these children.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Subjects underwent next\u2010generation sequencing under a research protocol. Clinical data were collected retrospectively. The biochemical effects of the mutations on\n                      <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\n                      1A3 protein function were investigated. Postmortem neuropathologic specimens from control and affected subjects were studied.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The mutations localized to the P domain of the Na,K\u2010\n                      <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\n                      ase \u03b13 protein, and resulted in significant reduction of Na,K\u2010\n                      <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\n                      ase activity in vitro. We demonstrate in both control human brain tissue and that from the subject with the p.Gly358Val mutation that\n                      <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\n                      1A3 immunofluorescence is prominently associated with interneurons in the cortex, which may provide some insight into the pathogenesis of the disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>\n                      The findings indicate these mutations cause severe phenotypes of\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\n                        1A3\n                      <\/jats:italic>\n                      \u2010related disorder spectrum that include catastrophic early life epilepsy, episodic apnea, and postnatal microcephaly.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/epi.12914","type":"journal-article","created":{"date-parts":[[2015,2,5]],"date-time":"2015-02-05T02:21:22Z","timestamp":1423102882000},"page":"422-430","source":"Crossref","is-referenced-by-count":122,"title":["Novel mutations in\n                    <i>ATP1A3<\/i>\n                    associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly"],"prefix":"10.1111","volume":"56","author":[{"given":"Alex R.","family":"Paciorkowski","sequence":"first","affiliation":[{"name":"Departments of Neurology, Pediatrics, and Biomedical Genetics University of Rochester Medical Center Rochester New York U.S.A"},{"name":"Center for Neural Development and Disease University of Rochester Medical Center Rochester New York U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon S.","family":"McDaniel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kaiser Permanente San Francisco California U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura A.","family":"Jansen","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Virginia Charlottesville Virginia U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Tully","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Washington Seattle Washington U.S.A"},{"name":"Center for Developmental Therapeutics Seattle Children's Research Institute Seattle Washington U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Tuttle","sequence":"additional","affiliation":[{"name":"Center for Neural Development and Disease University of Rochester Medical Center Rochester New York U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalia H.","family":"Ghoneim","sequence":"additional","affiliation":[{"name":"Center for Neural Development and Disease University of Rochester Medical Center Rochester New York U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Srinivasan","family":"Tupal","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Virginia Charlottesville Virginia U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonya A.","family":"Gunter","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Virginia Charlottesville Virginia U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Vasta","sequence":"additional","affiliation":[{"name":"Center for Developmental Therapeutics Seattle Children's Research Institute Seattle Washington U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center for Developmental Therapeutics Seattle Children's Research Institute Seattle Washington U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thao","family":"Tran","sequence":"additional","affiliation":[{"name":"Center for Developmental Therapeutics Seattle Children's Research Institute Seattle Washington U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi B.","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Massachusetts General Hospital Boston Massachusetts U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie J.","family":"Ozelius","sequence":"additional","affiliation":[{"name":"Departments of Genetics, Genomic Sciences, and Neurology Icahn School of Medicine at Mount Sinai New York New York U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Brashear","sequence":"additional","affiliation":[{"name":"Department of Neurology Wake Forest School of Medicine Winston Salem North Carolina U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen J.","family":"Sweadner","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Massachusetts General Hospital and Harvard Medical School Boston Massachusetts U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute Seattle Washington U.S.A"},{"name":"Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sihoun","family":"Hahn","sequence":"additional","affiliation":[{"name":"Center for Developmental Therapeutics Seattle Children's Research Institute Seattle Washington U.S.A"},{"name":"Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington U.S.A"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,2,5]]},"reference":[{"key":"e_1_2_7_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2004.06.028"},{"key":"e_1_2_7_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2358"},{"key":"e_1_2_7_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70182-5"},{"key":"e_1_2_7_1_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-15"},{"key":"e_1_2_7_1_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.12.2596"},{"key":"e_1_2_7_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04421.x"},{"key":"e_1_2_7_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl340"},{"key":"e_1_2_7_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25790"},{"key":"e_1_2_7_1_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182698d6c"},{"key":"e_1_2_7_1_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.4.1066"},{"key":"e_1_2_7_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70185-0"},{"key":"e_1_2_7_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(00)00157-0"},{"key":"e_1_2_7_1_14_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-2027"},{"key":"e_1_2_7_1_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq295"},{"key":"e_1_2_7_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25396"},{"key":"e_1_2_7_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2010.05.013"},{"key":"e_1_2_7_1_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0056120"},{"key":"e_1_2_7_1_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000102"},{"key":"e_1_2_7_1_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07939"},{"key":"e_1_2_7_1_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000212"},{"key":"e_1_2_7_1_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0097274"},{"key":"e_1_2_7_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-009-5385-y"},{"key":"e_1_2_7_1_24_1","first-page":"57","volume-title":"Alternating hemiplegia of childhood","author":"Becker LE","year":"1995"},{"key":"e_1_2_7_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1279-x"},{"key":"e_1_2_7_1_26_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.11-02-00381.1991"},{"key":"e_1_2_7_1_27_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2007.144733"},{"key":"e_1_2_7_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2009.04.003"},{"key":"e_1_2_7_1_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.22524"},{"key":"e_1_2_7_1_30_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.425785"},{"key":"e_1_2_7_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2005.03.004"},{"key":"e_1_2_7_1_32_1","doi-asserted-by":"publisher","DOI":"10.2741\/1704"},{"key":"e_1_2_7_1_33_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2012.247817"},{"key":"e_1_2_7_1_34_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2010.191858"},{"key":"e_1_2_7_1_35_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0904817106"},{"key":"e_1_2_7_1_36_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3875-11.2011"},{"key":"e_1_2_7_1_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt096"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.12914","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.12914","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.12914","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T04:53:06Z","timestamp":1696222386000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.12914"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,5]]},"references-count":36,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1111\/epi.12914"],"URL":"https:\/\/doi.org\/10.1111\/epi.12914","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,5]]}}}