{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:20:13Z","timestamp":1777803613249,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2012,6,29]],"date-time":"2012-06-29T00:00:00Z","timestamp":1340928000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:p>Mutations in the smooth muscle\u2013specific isoform of \u03b1-actin ( ACTA2) cause vascular smooth muscle dysfunction leading to aortic aneurysm and moyamoya syndrome. A unique R179H mutation in ACTA2 has been reported to result in widespread smooth muscle dysfunction affecting vascular and extravascular smooth muscles. We report a 7-year-old girl with an ACTA2 R179H mutation manifesting with neonatal seizures due to multifocal infarcts, asymmetric motor deficits, global developmental delay, spasticity, congenital bilateral mydriasis, and a large patent ductus arteriosus. Serial magnetic resonance imaging (MRI) of the brain over 7 years showed diffuse supratentorial white matter abnormalities consistent with a progressive leukoencephalopathy. Magnetic resonance angiography of the cerebral vessels showed stenosis in the terminal portion of the bilateral internal carotid arteries with fusiform dilation of the proximal segment. Neonatal onset of neurologic symptoms in ACTA2 mutations has not been previously reported. R179H mutation in ACTA2 represents the severe end of the disease spectrum.<\/jats:p>","DOI":"10.1177\/0883073812446631","type":"journal-article","created":{"date-parts":[[2012,6,29]],"date-time":"2012-06-29T22:40:40Z","timestamp":1341009640000},"page":"531-534","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":23,"title":["Neonatal Stroke and Progressive Leukoencephalopathy in a Child With an\n                    <i>ACTA2<\/i>\n                    Mutation"],"prefix":"10.1177","volume":"28","author":[{"given":"Ahsan N.V.","family":"Moosa","sequence":"first","affiliation":[{"name":"Center for Pediatric Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elias I.","family":"Traboulsi","sequence":"additional","affiliation":[{"name":"Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet","family":"Reid","sequence":"additional","affiliation":[{"name":"Radiology Institute, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lourdes","family":"Prieto","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rocio","family":"Moran","sequence":"additional","affiliation":[{"name":"Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neil R.","family":"Friedman","sequence":"additional","affiliation":[{"name":"Center for Pediatric Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,6,29]]},"reference":[{"key":"bibr1-0883073812446631","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.6"},{"key":"bibr2-0883073812446631","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33657"},{"key":"bibr3-0883073812446631","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.007"},{"key":"bibr4-0883073812446631","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2010.09.002"},{"key":"bibr5-0883073812446631","doi-asserted-by":"publisher","DOI":"10.1159\/000076248"},{"key":"bibr6-0883073812446631","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30341"},{"key":"bibr7-0883073812446631","first-page":"269","volume":"8","author":"Ades LC","year":"1999","journal-title":"Clin Dysmorphol"},{"key":"bibr8-0883073812446631","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35206"},{"key":"bibr9-0883073812446631","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0804622"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812446631","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073812446631","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812446631","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:06Z","timestamp":1777495026000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073812446631"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,29]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["10.1177\/0883073812446631"],"URL":"https:\/\/doi.org\/10.1177\/0883073812446631","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,29]]}}}