{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:32:28Z","timestamp":1777516348447,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>Ankyrin repeat domain 17 (ANKRD17) is postulated to play a role in the integrity of blood vessels and has been reported to be associated with developmental delays, epilepsy, and growth restriction. Whereas ANKRD17-deficient mice have been demonstrated to experience catastrophic hemorrhages, vascular malformations have not been reported in human patients with pathogenic variants to ANKRD17. We report a term male neonate with a heterozygous de novo variant to ANKRD17 (ANKRD17; c6988 C\u2009&gt;\u2009G, P.[P2330a]) who experienced subarachnoid hemorrhage from a ruptured aneurysm involving the left middle cerebral artery. He experienced acute symptomatic seizures and required clipping of his aneurysm at 35 days of life, later progressing to developing multifocal drug-resistant epilepsy. To our knowledge, this case represents the first report of a cerebrovascular malformation from a patient with ANKRD17. Further work is needed to investigate whether pathogenic variants to ANKRD17 can lead to cerebral aneurysms or other cerebrovascular malformations in children.<\/jats:p>","DOI":"10.1177\/2329048x221134600","type":"journal-article","created":{"date-parts":[[2022,10,19]],"date-time":"2022-10-19T02:25:06Z","timestamp":1666146306000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["Neonatal Aneurysm Rupture in a Child with a De Novo Variant to ANKRD17"],"prefix":"10.1177","volume":"9","author":[{"given":"Rebecca","family":"Silverstein","sequence":"first","affiliation":[{"name":"Department of Neurology, Barrow Neurological Institute at Phoenix Children's Hospital, Phoenix, AZ, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Kuwabara","sequence":"additional","affiliation":[{"name":"Department of Radiology, Phoenix Children's Hospital, Phoenix, AZ, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5396-2559","authenticated-orcid":false,"given":"Brian","family":"Appavu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Barrow Neurological Institute at Phoenix Children's Hospital, Phoenix, AZ, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,10,18]]},"reference":[{"key":"bibr1-2329048X221134600","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2009.07.025"},{"key":"bibr2-2329048X221134600","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.04.007"},{"key":"bibr3-2329048X221134600","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2013.5316"},{"key":"bibr4-2329048X221134600","doi-asserted-by":"publisher","DOI":"10.1038\/nature04479"},{"key":"bibr5-2329048X221134600","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cb.11.110195.000445"},{"key":"bibr6-2329048X221134600","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2003.08.015"},{"key":"bibr7-2329048X221134600","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1995.75.3.487"},{"key":"bibr8-2329048X221134600","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2021.107008"},{"key":"bibr9-2329048X221134600","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(22)00938-2"}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X221134600","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X221134600","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X221134600","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:58:21Z","timestamp":1777391901000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X221134600"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":9,"alternative-id":["10.1177\/2329048X221134600"],"URL":"https:\/\/doi.org\/10.1177\/2329048x221134600","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1]]},"article-number":"2329048X221134600"}}