{"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":1787577955863,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T00:00:00Z","timestamp":1719187200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>PURA<\/jats:italic>\n                    is mapped to chromosome 5q31 and plays a vital role in neuronal development and synapse formation. Here, we aim to explore\n                    <jats:italic>PURA's<\/jats:italic>\n                    impact on cognitive development and epilepsy phenotype by comparing patients with single nucleotide variants (SNPs) in the\n                    <jats:italic>PURA<\/jats:italic>\n                    gene (PURA\u2010SNP patients) to those with 5q31 microdeletions including\n                    <jats:italic>PURA<\/jats:italic>\n                    (5q31del\u2009+\u2009PURA) and those with 5q31 microdeletions not including the\n                    <jats:italic>PURA<\/jats:italic>\n                    gene (5q31del\u2010PURA). A systematic literature search was conducted in PubMed. Two separate searches were performed in order to find patients with\n                    <jats:italic>PURA<\/jats:italic>\n                    SNPs and 5q31 microdeletions. This review includes data from 191 patients collected from a total of 18 articles; 174 of the patients had\n                    <jats:italic>PURA<\/jats:italic>\n                    SNPs, 13 had 5q31 microdeletions involving the\n                    <jats:italic>PURA<\/jats:italic>\n                    gene, and 4 had 5q31 microdeletions without\n                    <jats:italic>PURA<\/jats:italic>\n                    gene implication. All patients exhibited hypotonia, feeding difficulties and dysmorphic features, however epilepsy was primarily present in patients with PURA syndrome, that is, groups\n                    <jats:italic>PURA<\/jats:italic>\n                    \u2010SNP and 5q31del\u2009+\u2009\n                    <jats:italic>PURA<\/jats:italic>\n                    . Regarding the developmental milestones the 5q31del\u2009+\u2009\n                    <jats:italic>PURA<\/jats:italic>\n                    group stood out as being the most severe, while the 5q31del\u2010\n                    <jats:italic>PURA<\/jats:italic>\n                    group showed a relatively mild phenotype. Our findings support the hypothesis of\n                    <jats:italic>PURA<\/jats:italic>\n                    being the key contributor of developmental delay and epilepsy among patients with PURA syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.14581","type":"journal-article","created":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T22:53:33Z","timestamp":1719269613000},"page":"386-393","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Differences in manifestations of epilepsy and developmental delay in\n                    <scp>PURA<\/scp>\n                    syndrome and 5q31 microdeletions"],"prefix":"10.1111","volume":"106","author":[{"given":"Andreas W. S.","family":"Kofoed","sequence":"first","affiliation":[{"name":"Faculty of Health and medical sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia S.","family":"Kristiansen","sequence":"additional","affiliation":[{"name":"Faculty of Health and medical sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J.","family":"Miranda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Neurology, Herlev University Hospital Copenhagen University  Herlev Denmark"},{"name":"Department of Clinical Medicine University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Rubboli","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine The Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Institute of Clinical Medicine, Faculty of Health University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrine M.","family":"Johannesen","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine University of Copenhagen  Copenhagen Denmark"},{"name":"Department of Genetics University Hospital of Copenhagen, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp858"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a000356"},{"key":"e_1_2_10_4_1","unstructured":"ReijndersMR LeventerRJ LeeBH BaralleD SelberP PaciorkowskiAR.PURA\u2010related neurodevelopmental disorders. I: Adam MP Feldman J Mirzaa GM Pagon RA Wallace SE Bean LJ m.fl. redakt\u00f8rer. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington Seattle; 1993 [henvist 26.2024http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK426063\/"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104946"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000613"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-022-01217-4"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36108"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-4827(02)00102-7"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34100"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-015-0193-9"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.01.005"},{"issue":"5","key":"e_1_2_10_13_1","first-page":"170","article-title":"PURA syndrome in a child with severe developmental delay: a challenging diagnosis","volume":"74","author":"Nogueira M","year":"2022","journal-title":"Rev Neurol"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2021.1328"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-022-00189-7"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci12070871"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.09.007"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/jdn.10266"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2021.05.009"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33891"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2018.7"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35439"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000341252"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31742"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14581","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T05:58:44Z","timestamp":1725256724000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14581"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,24]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["10.1111\/cge.14581"],"URL":"https:\/\/doi.org\/10.1111\/cge.14581","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14581\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14581\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14581\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14581\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14581\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14581\/v1\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,24]]},"assertion":[{"value":"2024-04-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}