{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:39:04Z","timestamp":1790044744744,"version":"4.0.1"},"reference-count":15,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1016\/j.ejmg.2018.06.002","type":"journal-article","created":{"date-parts":[[2018,6,5]],"date-time":"2018-06-05T18:13:36Z","timestamp":1528222416000},"page":"738-740","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway"],"prefix":"10.1016","volume":"61","author":[{"given":"Chloe","family":"Stutterd","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"McGillivray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zornitza","family":"Stark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betty","family":"Messazos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fergus","family":"Cameron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sue","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghayda","family":"Mirzaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Leventer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ejmg.2018.06.002_bib1","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1210\/jc.2013-3228","article-title":"Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia","volume":"99","author":"Arya","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"8","key":"10.1016\/j.ejmg.2018.06.002_bib2","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1038\/nrg1879","article-title":"The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism","volume":"7","author":"Engelman","year":"2006","journal-title":"Nat. Rev. Genet."},{"issue":"13","key":"10.1016\/j.ejmg.2018.06.002_bib3","doi-asserted-by":"crossref","first-page":"5569","DOI":"10.1073\/pnas.0701005104","article-title":"Rare cancer-specific mutations in PIK3CA show gain of function","volume":"104","author":"Gymnopoulos","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"6055","key":"10.1016\/j.ejmg.2018.06.002_bib4","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1126\/science.1210878","article-title":"An activating mutation of AKT2 and human hypoglycemia","volume":"334","author":"Hussain","year":"2011","journal-title":"Science"},{"issue":"2","key":"10.1016\/j.ejmg.2018.06.002_bib5","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/ajmg.a.36836","article-title":"PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation","volume":"167A","author":"Keppler-Noreuil","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"issue":"4","key":"10.1016\/j.ejmg.2018.06.002_bib6","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.1096\/fj.14-262782","article-title":"Ubiquitous expression of the Pik3caH1047R mutation promotes hypoglycemia, hypoinsulinemia, and organomegaly","volume":"29","author":"Kinross","year":"2015","journal-title":"Faseb. J."},{"issue":"D1","key":"10.1016\/j.ejmg.2018.06.002_bib7","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkv1222","article-title":"ClinVar: public archive of interpretations of clinically relevant variants","volume":"44","author":"Landrum","year":"2016","journal-title":"Nucleic Acids Res."},{"issue":"2","key":"10.1016\/j.ejmg.2018.06.002_bib8","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1530\/EJE-17-0132","article-title":"Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase","volume":"177","author":"Leiter","year":"2017","journal-title":"Eur. J. Endocrinol."},{"issue":"3","key":"10.1016\/j.ejmg.2018.06.002_bib9","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1111\/cge.13145","article-title":"Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth","volume":"93","author":"McDermott","year":"2018","journal-title":"Clin. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2018.06.002_bib10","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.87623","article-title":"PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution","volume":"1","author":"Mirzaa","year":"2016","journal-title":"JCI Insight"},{"issue":"3","key":"10.1016\/j.ejmg.2018.06.002_bib11","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.ymgme.2014.11.018","article-title":"Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia","volume":"114","author":"Nellist","year":"2015","journal-title":"Mol. Genet. Metabol."},{"issue":"8","key":"10.1016\/j.ejmg.2018.06.002_bib12","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1038\/ng.2331","article-title":"De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes","volume":"44","author":"Riviere","year":"2012","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2018.06.002_bib13","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.molcel.2006.03.029","article-title":"Prolonged rapamycin treatment inhibits mTORC2 assembly and Akt\/PKB","volume":"22","author":"Sarbassov","year":"2006","journal-title":"Mol. Cell"},{"issue":"11","key":"10.1016\/j.ejmg.2018.06.002_bib14","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1038\/gim.2016.1","article-title":"A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders","volume":"18","author":"Stark","year":"2016","journal-title":"Genet. Med."},{"issue":"3","key":"10.1016\/j.ejmg.2018.06.002_bib15","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/nrm3290","article-title":"PI3K signalling: the path to discovery and understanding","volume":"13","author":"Vanhaesebroeck","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217306572?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217306572?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:45:54Z","timestamp":1761709554000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217306572"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":15,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["S1769721217306572"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.06.002","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.06.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}