{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:24:34Z","timestamp":1787027074954,"version":"build-2736575974"},"reference-count":10,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T00:00:00Z","timestamp":1619481600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    Long QT syndactyly syndrome (long QT syndrome type 8), also known as Timothy Syndrome (TS) was first described in 1994 with still &amp;lt;50 case reported in the literature. The full spectrum of the syndrome is not yet known.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    Here we report a girl who presented with new onset refractory seizures and an undiagnosed cause of intermittent abdominal distention. She also had syndactyly of her fingers and toes and was found to have prolonged QT. Upon further investigations she was found to have a\n                    <jats:italic>de novo<\/jats:italic>\n                    pathogenic variant in\n                    <jats:italic>CACNA1C<\/jats:italic>\n                    , along with Segmental Ileal Dilatation (SID), and subsequently diagnosed with Timothy syndrome.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    To our knowledge, the association of Timothy Syndrome with Segmental Ileal Dilatation, was not described before.\n                  <\/jats:p>","DOI":"10.3389\/fped.2021.634655","type":"journal-article","created":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T00:15:56Z","timestamp":1619482556000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation"],"prefix":"10.3389","volume":"9","author":[{"given":"Ahmed A.","family":"Nugud","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nermeen Mahmoud","family":"ELkholy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Awad Alkarim","family":"Omar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abid","family":"Qazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Tzivinikos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nidheesh","family":"Chencheri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabina","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Eyad","family":"Ba'Ath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,4,27]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.cell.2004.09.011","article-title":"CaV1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism","volume":"119","author":"Splawski","year":"2004","journal-title":"Cell"},{"key":"B2","doi-asserted-by":"publisher","first-page":"8089","DOI":"10.1073\/pnas.0502506102","article-title":"Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations","volume":"102","author":"Splawski","year":"2005","journal-title":"PNAS"},{"key":"B3","article-title":"Timothy syndrome","volume-title":"GeneReviews\u00ae","author":"Napolitano","year":"1993"},{"key":"B4","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1002\/ajmg.a.34355","article-title":"Long QT, syndactyly, joint contractures, stroke, and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome","author":"Gillis","year":"2011","journal-title":"Am J Med Genet A"},{"key":"B5","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1177\/1535370219863149","article-title":"Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside","volume":"244","author":"Han","year":"2019","journal-title":"Exp Biol Med"},{"key":"B6","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1016\/j.jacep.2017.08.007","article-title":"Clinical outcomes and modes of death in timothy syndrome","volume":"4","author":"Dufendach","year":"2018","journal-title":"JACC Clin Electrophysiol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1097\/ALN.0b013e31826e73b1","article-title":"Case scenario: anesthesia-related cardiac arrest in a child with timothy syndrome","volume":"117","author":"Nathan","year":"2012","journal-title":"Anesthesiology"},{"key":"B8","doi-asserted-by":"publisher","first-page":"285","DOI":"10.4103\/jiaps.JIAPS_201_18","article-title":"Congenital segmental dilatation of jejunum: a rare entity","volume":"24","author":"Shah","year":"2019","journal-title":"J Indian Assoc Pediatr Surg"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1130","DOI":"10.1016\/j.jpedsurg.2006.02.027","article-title":"Segmental dilatation of the intestine","volume":"41","author":"Ben Brahim","year":"2006","journal-title":"J Pediatr Surg"},{"key":"B10","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1038\/nrgastro.2012.168","article-title":"Regulation of gastrointestinal motility\u2014insights from smooth muscle biology","volume":"9","author":"Sanders","year":"2012","journal-title":"Nat Rev Gastroenterol Hepatol"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.634655\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T00:15:59Z","timestamp":1619482559000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.634655\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,27]]},"references-count":10,"alternative-id":["10.3389\/fped.2021.634655"],"URL":"https:\/\/doi.org\/10.3389\/fped.2021.634655","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,27]]},"article-number":"634655"}}