{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T13:25:55Z","timestamp":1787577955870,"version":"build-2736575974"},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,7,18]],"date-time":"2023-07-18T00:00:00Z","timestamp":1689638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>PURA syndrome is a rare genetic disorder characterized by neonatal hypotonia, neurodevelopmental delay, facial dysmorphism, epileptic seizures, complex movement disorders, among other features. Although many pathogenic variants have been reported, there is currently no clear genotype\u2013phenotype association identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>Four patients diagnosed with PURA syndrome, despite carrying different pathogenic variants, presented a similar mixed hyperkinetic movement disorder. The phenomenology presented a complex set of symptoms, including chorea, interspersed with dystonic and uncoordinated movements. All patients presented also hypotonia, nystagmus, feeding difficulties, craniofacial dysmorphisms. Hypersomnolence and breathing problems were common and observed in three patients, while seizures were found in three patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>PURA syndrome may be considered in the differential diagnosis of infants with severe hypotonia, feeding difficulties and severe developmental delay with epileptic seizures, that start to develop a mixed hyperkinetic movement disorder. These complex movements may be an important clue for the diagnosis of this rare disorder.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13804","type":"journal-article","created":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T03:18:29Z","timestamp":1686107909000},"page":"1542-1546","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Movement Disorders in <scp>PURA<\/scp> Syndrome: A Video Case Series"],"prefix":"10.1002","volume":"10","author":[{"given":"Ana C.S.","family":"Crippa","sequence":"first","affiliation":[{"name":"Neurology Pediatric Unit Federal University of Paran\u00e1  Curitiba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eli Paula","family":"Bacheladenski","sequence":"additional","affiliation":[{"name":"Neurology Pediatric Unit Federal University of Paran\u00e1  Curitiba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle C.B.","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Neurology Pediatric Unit Federal University of Paran\u00e1  Curitiba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Let\u00edcia Pugim","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Neurology Pediatric Unit Federal University of Paran\u00e1  Curitiba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6685-7491","authenticated-orcid":false,"given":"Alex T.","family":"Meira","sequence":"additional","affiliation":[{"name":"Internal Medicine Department Federal University of Para\u00edba  Jo\u00e3o Pessoa Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0207-3671","authenticated-orcid":false,"given":"Gustavo L.","family":"Franklin","sequence":"additional","affiliation":[{"name":"Internal Medicine Department Pontifical Catholic University of Paran\u00e1  Curitiba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000613"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.19.6857-6875.2003"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102798"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2021.05.009"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104946"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.09.014"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13272"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000201605"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38521"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13804","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:58:48Z","timestamp":1760957928000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.13804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,18]]},"references-count":9,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1002\/mdc3.13804"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.13804","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,18]]},"assertion":[{"value":"2023-02-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}