{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T06:30:35Z","timestamp":1767162635878,"version":"build-2238731810"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,9,7]],"date-time":"2020-09-07T00:00:00Z","timestamp":1599436800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>\n                    A heterogeneous spectrum of clinical manifestations caused by mutations in\n                    <jats:italic>ATP1A3<\/jats:italic>\n                    have been previously described. Here we report two cases of infantile\u2010onset cerebellar ataxia, due to two different\n                    <jats:italic>ATP1A3<\/jats:italic>\n                    variants. Both patients showed slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms. Brain magnetic resonance imaging revealed mild cerebellar cortical atrophy in both patients. Whole exome sequencing revealed a de novo heterozygous variant in\n                    <jats:italic>ATP1A3<\/jats:italic>\n                    in both patients. One patient had the c.460A&gt;G (p.Met154Val) variant, while the other carried the c.1050C&gt;A (p.Asn350Lys) variant. This phenotype was characterized by a slowly progressive cerebellar ataxia since the infantile period, which has not been previously described in association with\n                    <jats:italic>ATP1A3<\/jats:italic>\n                    variants or in\n                    <jats:italic>ATP1A3<\/jats:italic>\n                    \u2010related clinical conditions. Our report contributes to extend the phenotypic spectrum of\n                    <jats:italic>ATP1A3<\/jats:italic>\n                    mutations, showing paediatric slowly progressive cerebellar ataxia with mild cerebellar atrophy alone as an additional clinical presentation of\n                    <jats:italic>ATP1A3<\/jats:italic>\n                    \u2010related neurological disorders.\n                  <\/jats:p>","DOI":"10.1111\/dmcn.14666","type":"journal-article","created":{"date-parts":[[2020,12,19]],"date-time":"2020-12-19T22:56:32Z","timestamp":1608418592000},"page":"111-115","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["<i>ATP1A3<\/i>\n                    variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children"],"prefix":"10.1111","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8518-2912","authenticated-orcid":false,"given":"Masayuki","family":"Sasaki","sequence":"first","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Tokyo 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":"Yuko","family":"Shimizu\u2010Motohashi","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eri","family":"Takeshita","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[{"name":"Division of Genetics Kanagawa Children\u2019s Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiro","family":"Iwama","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Mizuguchi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,7]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"GeneReviews\u00ae","author":"Brashear A","year":"1993"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000139"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000102"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl340"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-15"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12927"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.04.022"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12914"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-018-0920-y"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0151429"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a001008"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.12.074"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0667-4"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12451"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.11-02-00381.1991"}],"updated-by":[{"DOI":"10.1111\/dmcn.14847","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T00:00:00Z","timestamp":1649116800000}}],"container-title":["Developmental Medicine &amp; 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