{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T12:50:06Z","timestamp":1774270206213,"version":"3.50.1"},"reference-count":29,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","brainanddevelopment.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.1016\/j.braindev.2016.04.008","type":"journal-article","created":{"date-parts":[[2016,5,10]],"date-time":"2016-05-10T14:16:40Z","timestamp":1462889800000},"page":"807-818","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"title":["Clinical and genetic analysis of two Chinese infants with Mabry syndrome"],"prefix":"10.1016","volume":"38","author":[{"given":"Jiao","family":"Xue","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuehua","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhixian","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2016.04.008_b0005","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/S0022-3476(70)80047-6","article-title":"Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits","volume":"77","author":"Mabry","year":"1970","journal-title":"J Pediatr"},{"key":"10.1016\/j.braindev.2016.04.008_b0010","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1002\/ajmg.a.33438","article-title":"Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: five new patients with Mabry syndrome","volume":"152A","author":"Thompson","year":"2010","journal-title":"Am J Med Genet Part A"},{"key":"10.1016\/j.braindev.2016.04.008_b0015","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/ajmg.a.35202","article-title":"Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)","volume":"158A","author":"Thompson","year":"2012","journal-title":"Am J Med Genet Part A"},{"key":"10.1016\/j.braindev.2016.04.008_b0020","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.ejmg.2010.01.002","article-title":"Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: delineation of a recognizable syndrome","volume":"53","author":"Horn","year":"2010","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.braindev.2016.04.008_b0025","doi-asserted-by":"crossref","first-page":"1917","DOI":"10.1002\/ajmg.a.34102","article-title":"Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum","volume":"155A","author":"Horn","year":"2011","journal-title":"Med Genet Part A"},{"key":"10.1016\/j.braindev.2016.04.008_b0030","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1038\/ejhg.2013.241","article-title":"Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome","volume":"22","author":"Horn","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.braindev.2016.04.008_b0035","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1038\/ng.653","article-title":"Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome","volume":"42","author":"Krawitz","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2016.04.008_b0040","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.ajhg.2012.05.004","article-title":"Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation","volume":"91","author":"Krawitz","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2016.04.008_b0045","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1016\/j.ajhg.2013.03.011","article-title":"PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome","volume":"92","author":"Krawitz","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2016.04.008_b0050","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.ajhg.2013.12.012","article-title":"Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation","volume":"94","author":"Howard","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2016.04.008_b0055","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1002\/ajmg.a.36987","article-title":"Mutations in PIGL in a patient with Mabry syndrome","volume":"167A","author":"Fujiwara","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2016.04.008_b0060","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1136\/jmedgenet-2013-102156","article-title":"Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome","volume":"51","author":"Chiyonobu","year":"2014","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2016.04.008_b0065","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/epi.12925","article-title":"SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability","volume":"56","author":"Kong","year":"2015","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2016.04.008_b0070","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.braindev.2016.04.008_b0075","doi-asserted-by":"crossref","DOI":"10.1111\/epi.12508","article-title":"PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels","volume":"55","author":"Nakamura","year":"2014","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2016.04.008_b0080","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1212\/WNL.0b013e3182a8411a","article-title":"Vitamin B6-responsive epilepsy due to inherited GPI deficiency","volume":"81","author":"Kuki","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2016.04.008_b0085","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng.149","article-title":"X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment","volume":"40","author":"Dibbens","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2016.04.008_b0090","series-title":"Jasper\u2019s basic mechanisms of the epilepsies [internet]","article-title":"Genes in infantile epileptic encephalopathies","author":"Depienne","year":"2012"},{"key":"10.1016\/j.braindev.2016.04.008_b0095","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1111\/j.1399-0004.1990.tb03594.x","article-title":"A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms","volume":"38","author":"Fabisiak","year":"1990","journal-title":"Clin Genet"},{"key":"10.1016\/j.braindev.2016.04.008_b0100","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/S0022-3476(71)80382-7","article-title":"A new familial form of convulsive disorder and mental retardation limited to females","volume":"79","author":"Juberg","year":"1971","journal-title":"J Pediatr"},{"key":"10.1016\/j.braindev.2016.04.008_b0105","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/ng0997-92","article-title":"Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing","volume":"17","author":"Ryan","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2016.04.008_b0110","doi-asserted-by":"crossref","first-page":"e1000381","DOI":"10.1371\/journal.pgen.1000381","article-title":"Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females","volume":"5","author":"Depienne","year":"2009","journal-title":"PLoS Genet"},{"key":"10.1016\/j.braindev.2016.04.008_b0115","doi-asserted-by":"crossref","first-page":"E1959","DOI":"10.1002\/humu.21373","article-title":"Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females","volume":"32","author":"Depienne","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2016.04.008_b0120","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1212\/WNL.0b013e3181ed9e67","article-title":"Protocadherin 19 mutations in girls with infantile-onset epilepsy","volume":"75","author":"Marini","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2016.04.008_b0125","doi-asserted-by":"crossref","first-page":"9489","DOI":"10.1074\/jbc.M413867200","article-title":"PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol","volume":"280","author":"Kang","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1016\/j.braindev.2016.04.008_b0130","doi-asserted-by":"crossref","first-page":"20911","DOI":"10.1074\/jbc.M001913200","article-title":"Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol","volume":"275","author":"Hong","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1016\/j.braindev.2016.04.008_b0135","doi-asserted-by":"crossref","first-page":"6318","DOI":"10.1074\/jbc.M111.331090","article-title":"Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome","volume":"287","author":"Murakami","year":"2012","journal-title":"J Biol Chem"},{"key":"10.1016\/j.braindev.2016.04.008_b0140","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1091\/mbc.E06-10-0885","article-title":"Fatty acid remodeling of GPI-anchored proteins is required for their raft association","volume":"18","author":"Maeda","year":"2007","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.braindev.2016.04.008_b0145","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.pediatrneurol.2005.08.020","article-title":"Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?","volume":"34","author":"Thompson","year":"2006","journal-title":"Pediatr Neurol"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760416300389?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760416300389?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,12]],"date-time":"2018-09-12T04:58:31Z","timestamp":1536728311000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760416300389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10]]},"references-count":29,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["S0387760416300389"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2016.04.008","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2016,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and genetic analysis of two Chinese infants with Mabry syndrome","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2016.04.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}