{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:30:20Z","timestamp":1777804220949,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2018,1,25]],"date-time":"2018-01-25T00:00:00Z","timestamp":1516838400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100005339","name":"American Academy of Neurology","doi-asserted-by":"publisher","award":["Medical Student Summer Research Scholarship (2017)"],"award-info":[{"award-number":["Medical Student Summer Research Scholarship (2017)"]}],"id":[{"id":"10.13039\/100005339","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T35DK060444"],"award-info":[{"award-number":["T35DK060444"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P\/Q type calcium channel\n                      <jats:italic toggle=\"yes\">CACNA1A<\/jats:italic>\n                      have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patient Description:<\/jats:title>\n                    <jats:p>\n                      The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in\n                      <jats:italic toggle=\"yes\">CACNA1A<\/jats:italic>\n                      who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, abnormal tone, vasomotor disturbance, scoliosis, growth retardation, and screaming spells) for atypical Rett syndrome. Furthermore, she resembles the early seizure variant of Rett syndrome. Previously, 3 children with similar\n                      <jats:italic toggle=\"yes\">CACNA1A<\/jats:italic>\n                      mutations have been reported, but a Rett syndrome phenotype has not been described.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">CACNA1A<\/jats:italic>\n                      mutations should be considered in children presenting with an atypical Rett syndrome phenotype, specifically, the early seizure variant.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0883073818754987","type":"journal-article","created":{"date-parts":[[2018,1,25]],"date-time":"2018-01-25T04:23:08Z","timestamp":1516854188000},"page":"286-289","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":19,"title":["An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in\n                    <i>CACNA1A<\/i>"],"prefix":"10.1177","volume":"33","author":[{"given":"Madison V.","family":"Epperson","sequence":"first","affiliation":[{"name":"Division of Neurology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH, USA"},{"name":"University of Cincinnati College of Medicine, Cincinnati, OH, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael E.","family":"Haws","sequence":"additional","affiliation":[{"name":"Division of Neurology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shannon M.","family":"Standridge","sequence":"additional","affiliation":[{"name":"Division of Neurology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald L.","family":"Gilbert","sequence":"additional","affiliation":[{"name":"Division of Neurology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2018,1,25]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140412"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22124"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0499-7"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2011.228"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.003"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.21"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3703"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02597.x"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww302"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073818754987","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073818754987","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073818754987","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:39:23Z","timestamp":1777495163000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073818754987"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,25]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["10.1177\/0883073818754987"],"URL":"https:\/\/doi.org\/10.1177\/0883073818754987","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,25]]}}}