{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T14:44:02Z","timestamp":1789656242913,"version":"4.0.1"},"reference-count":20,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:p>Introduction: Synaptotagmin 1 (SYT1), the predominant SYT isoform in the central nervous system, likely acts by promoting vesicle docking, deforming the plasma membrane via Ca2+-dependent membrane penetration. Case Presentation: Here, we describe a 21-year-old woman harboring a novel variant in the SYT1 gene, who presents with a complex phenotype, featuring severe intellectual disability, absent speech, behavioral abnormalities, motor stereotypies, dystonic posturing of her hands, a hyperkinetic movement disorder in her childhood, infantile hypotonia, sialorrhea, mild dysmorphic features, epilepsy, peculiar EEG findings, and severe scoliosis. Discussion: Based on our case and literature review on the 22 previously described patients, we can confirm a complex neurodevelopmental disorder in which, unlike other synaptopathies, epilepsy is present in a subset of cases (including our patient: 5\/23, 22%), although characteristic EEG changes are far more common (10\/23, 43.5%). Our patient\u2019s age allows us to provide long-term follow-up data and thus better delineate the SYT1-related clinical phenotype. <\/jats:p>","DOI":"10.1159\/000530586","type":"journal-article","created":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T21:06:51Z","timestamp":1698181611000},"page":"493-497","source":"Crossref","is-referenced-by-count":6,"title":["Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review"],"prefix":"10.1159","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0092-5604","authenticated-orcid":false,"given":"Carlo Alberto","family":"Cesaroni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1828-4035","authenticated-orcid":false,"given":"Carlotta","family":"Spagnoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Baga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Rizzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Frattini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano Giuseppe","family":"Caraffi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9865-0751","authenticated-orcid":false,"given":"Marzia","family":"Pollazzon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livia","family":"Garavelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Fusco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2023,5,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10971"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy209"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb1076"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2020.04.003"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-017-0037-5"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1694-15.2015"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/35065004"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.05.049"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/jnc.15135"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/s41594-018-0130-9"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.05.016"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.593446"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1341-09.2009"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3681"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.12.002"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.3097"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.18-19-07662.1998"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M306728200"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/nature14975"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000530586\/4036840\/000530586.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000530586\/4036840\/000530586.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:25:45Z","timestamp":1745421945000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000530586"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":20,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,12,5]]},"published-print":{"date-parts":[[2023,12,5]]}},"URL":"https:\/\/doi.org\/10.1159\/000530586","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.22691863","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023]]}}}