{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:34:04Z","timestamp":1790753644465,"version":"4.1.0"},"reference-count":61,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T00:00:00Z","timestamp":1634256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI16\/01411"],"award-info":[{"award-number":["PI16\/01411"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Insitut d'Innovaci\u00f3 i Investigaci\u00f3 Parc Taul\u00ed I3PT","award":["CIR2016\/025, CIR2018\/021"],"award-info":[{"award-number":["CIR2016\/025, CIR2018\/021"]}]},{"name":"Asociaci\u00f3n Espa\u00f1ola de s\u00edndrome de Angelman"},{"DOI":"10.13039\/501100003329","name":"Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"publisher","award":["SAF2016-80255-R"],"award-info":[{"award-number":["SAF2016-80255-R"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>\n                    Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10\u201315% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of 14 patients with clinical features of AS and no molecular diagnosis. As a result, we identified 10\n                    <jats:italic>de novo<\/jats:italic>\n                    and 1 X-linked pathogenic\/likely pathogenic variants in 10 neurodevelopmental genes (\n                    <jats:italic>SYNGAP1<\/jats:italic>\n                    ,\n                    <jats:italic>VAMP2<\/jats:italic>\n                    ,\n                    <jats:italic>TBL1XR1<\/jats:italic>\n                    ,\n                    <jats:italic>ASXL3<\/jats:italic>\n                    ,\n                    <jats:italic>SATB2<\/jats:italic>\n                    ,\n                    <jats:italic>SMARCE1<\/jats:italic>\n                    ,\n                    <jats:italic>SPTAN1<\/jats:italic>\n                    ,\n                    <jats:italic>KCNQ3<\/jats:italic>\n                    ,\n                    <jats:italic>SLC6A1<\/jats:italic>\n                    and\n                    <jats:italic>LAS1L<\/jats:italic>\n                    ) and one deleterious\n                    <jats:italic>de novo<\/jats:italic>\n                    variant in a candidate gene (\n                    <jats:italic>HSF2<\/jats:italic>\n                    ). Our results highlight the wide genetic heterogeneity in AS-like patients and expands the differential diagnosis.\n                  <\/jats:p>","DOI":"10.1371\/journal.pone.0258766","type":"journal-article","created":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T14:24:00Z","timestamp":1634307840000},"page":"e0258766","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":25,"title":["New genes involved in Angelman syndrome-like: Expanding the genetic spectrum"],"prefix":"10.1371","volume":"16","author":[{"given":"Cinthia","family":"Aguilera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Gabau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariadna","family":"Ramirez-Mallafr\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carme","family":"Brun-Gasca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Dominguez-Carral","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Delgadillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Laurie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"Derdak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7872-2279","authenticated-orcid":true,"given":"Nat\u00e0lia","family":"Padilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"de la Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N\u00faria","family":"Capdevila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nino","family":"Spataro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neus","family":"Baena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Guitart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7314-5962","authenticated-orcid":true,"given":"Anna","family":"Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2021,10,15]]},"reference":[{"key":"pone.0258766.ref001","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/ajmg.a.31074","article-title":"Angelman Syndrome 2005: Updated Consensus for Diagnostic Criteria Charles","volume":"140","author":"C Williams","year":"2006","journal-title":"Am J Med Genet Part A"},{"key":"pone.0258766.ref002","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1038\/s41431-019-0435-0","article-title":"Update of the EMQN\/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes","volume":"27","author":"J Beygo","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"pone.0258766.ref003","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1002\/ajmg.a.36416","article-title":"If not Angelman, what is it? 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