{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T06:03:23Z","timestamp":1762409003191},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T00:00:00Z","timestamp":1384473600000},"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":[[2014,1]]},"abstract":"<jats:p>The phenotype attributed to <jats:italic><jats:styled-content style=\"fixed-case\">MECP<\/jats:styled-content>2<\/jats:italic> mutations continues to expand. In addition to classic and variant Rett syndrome, phenotypes include non\u2010specific intellectual disability and autism spectrum disorder in females, and fatal neonatal encephalopathy in males. One particular phenotype of parkinsonism, pyramidal signs, and neuropsychiatric symptoms (<jats:styled-content style=\"fixed-case\">PPM<\/jats:styled-content>\u2010X) has been described only in males. We report on the first female with the A140V <jats:styled-content style=\"fixed-case\">MECP<\/jats:styled-content><jats:italic>2<\/jats:italic> mutation presenting with late onset cognitive regression, pyramidal symptoms, parkinsonism, and bipolar symptoms. This finding emphasizes the need to consider <jats:italic><jats:styled-content style=\"fixed-case\">MECP<\/jats:styled-content>2<\/jats:italic> sequencing in females with non\u2010classic Rett phenotypes, particularly those with intellectual disability and neuropsychiatric features.<\/jats:p>","DOI":"10.1111\/dmcn.12334","type":"journal-article","created":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T10:33:46Z","timestamp":1384511626000},"page":"91-94","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V <scp>MECP<\/scp>2 mutation"],"prefix":"10.1111","volume":"56","author":[{"given":"Sunita","family":"Venkateswaran","sequence":"first","affiliation":[{"name":"Division of Neurology Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugh J","family":"McMillan","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asif","family":"Doja","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Humphreys","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,11,15]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000304752.50773.ec"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000291011.54508.aa"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1188"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.9.941"},{"key":"e_1_2_4_6_1","first-page":"1120","article-title":"PPM\u2010X: a new X\u2010linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28","volume":"58","author":"Lindsay S","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_7_1","unstructured":"IRSF MECP2 Variation Database [Internet]. 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