{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T11:15:16Z","timestamp":1783509316226,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,1,16]],"date-time":"2012-01-16T00:00:00Z","timestamp":1326672000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:p><jats:bold>Aim\u2002<\/jats:bold> To describe the clinical and radiological features of four new families with a childhood presentation of <jats:italic>COL4A1<\/jats:italic> mutation.<\/jats:p><jats:p><jats:bold>Method\u2002<\/jats:bold> We retrospectively reviewed the clinical presentation. Investigations included radiological findings and <jats:italic>COL4A1<\/jats:italic> mutation analysis of the four cases. Affected family members were identified. <jats:italic>COL4A1<\/jats:italic> mutation analysis was performed in all index cases and, where possible, in affected family members.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> The three male and one female index cases presented with recurrent childhood\u2010onset stroke, infantile hemiplegia\/spastic quadriplegia, and infantile spasms. Additional features such as congenital cataracts and anterior segment dysgenesis were present. Microcephaly and developmental delay\/learning difficulties were present in three cases. Three cases had one or more family member affected in multiple generations, with a total of 11 such individuals identified. The clinical features showed a wide intrafamilial variation. Magnetic resonance imaging (MRI) showed bilateral white matter change in all cases, except in one mutation\u2010positive family member. Unilateral or bilateral porencephaly was present in cases with infantile hemiplegia, and a diagnosis of clinical stroke was supported by the presence of intracerebral haemorrhage. The age at diagnosis was between 1\u2003year and 6\u2003years for the children with presentation in infancy and 12\u2003months after stroke in a 14\u2010year\u2010old male. Three new pathogenic mutations were identified in the <jats:italic>COL4A1<\/jats:italic> gene.<\/jats:p><jats:p><jats:bold>Interpretation\u2002<\/jats:bold>  <jats:italic>COL4A1<\/jats:italic> mutations can present in children with infantile hemiplegia\/quadriplegia, stroke or epilepsy, and a motor disorder. The presence of eye features and white matter change on MRI in childhood can help point towards the diagnosis. Once the diagnosis is made, a careful search can identify affected family members.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2011.04198.x","type":"journal-article","created":{"date-parts":[[2012,1,16]],"date-time":"2012-01-16T12:56:23Z","timestamp":1326718583000},"page":"569-574","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":70,"title":["Childhood presentation of <i>COL4A1<\/i> mutations"],"prefix":"10.1111","volume":"54","author":[{"given":"SIDDHARTH","family":"SHAH","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SIAN","family":"ELLARD","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RACHEL","family":"KNEEN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MING","family":"LIM","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NIGEL","family":"OSBORNE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JULIA","family":"RANKIN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NEIL","family":"STOODLEY","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MARJO","family":"VAN DER KNAAP","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ANDREA","family":"WHITNEY","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PHILIP","family":"JARDINE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,1,16]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1109418"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.035584"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20715"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa071906"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21191"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000295994.46586.e7"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21525"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2009.04.010"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002062"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa053727"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.106.475194"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1275343"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31820e7751"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi348"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.110.581918"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2010.42"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33659"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-8749.2011.04198.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-8749.2011.04198.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T14:17:29Z","timestamp":1697379449000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-8749.2011.04198.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,16]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["10.1111\/j.1469-8749.2011.04198.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-8749.2011.04198.x","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,16]]},"assertion":[{"value":"2012-01-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}