{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T07:01:32Z","timestamp":1791356492013,"version":"4.3.1"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2012,8,21]],"date-time":"2012-08-21T00:00:00Z","timestamp":1345507200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Rev Neurol"],"published-print":{"date-parts":[[2012,10]]},"DOI":"10.1038\/nrneurol.2012.178","type":"journal-article","created":{"date-parts":[[2012,8,21]],"date-time":"2012-08-21T09:57:02Z","timestamp":1345543022000},"page":"542-544","source":"Crossref","is-referenced-by-count":20,"title":["Mutations in mTOR pathway linked to megalencephaly syndromes"],"prefix":"10.1038","volume":"8","author":[{"given":"Pasquale","family":"Striano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,8,21]]},"reference":[{"key":"BFnrneurol2012178_CR1","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.spen.2007.07.004","volume":"14","author":"AH Olney","year":"2007","unstructured":"Olney, A. H. Macrocephaly syndromes. Semin. Pediatr. Neurol. 14, 128\u2013135 (2007).","journal-title":"Semin. Pediatr. Neurol."},{"key":"BFnrneurol2012178_CR2","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1002\/ajmg.a.34402","volume":"158","author":"GM Mirzaa","year":"2012","unstructured":"Mirzaa, G. M.  et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am. J. Med. Genet. A 158, 269\u2013291 (2012).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFnrneurol2012178_CR3","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1002\/ajmg.a.31024","volume":"139","author":"BT Tinkle","year":"2005","unstructured":"Tinkle, B. T., Schorry, E. K., Franz, D. N., Crone, K. R. & Saal, H. M. Epidemiology of hemimegalencephaly: a case series and review. Am. J. Med. Genet. A 139, 204\u2013211 (2005).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFnrneurol2012178_CR4","doi-asserted-by":"publisher","first-page":"934","DOI":"10.1038\/ng.2331","volume":"44","author":"J-B Rivi\u00e8re","year":"2012","unstructured":"Rivi\u00e8re, J.-B.  et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat. Genet. 44, 934\u2013940 (2012).","journal-title":"Nat. Genet."},{"key":"BFnrneurol2012178_CR5","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1038\/ng.2329","volume":"44","author":"JH Lee","year":"2012","unstructured":"Lee, J. H.  et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat. Genet. 44, 941\u2013945 (2012).","journal-title":"Nat. Genet."},{"key":"BFnrneurol2012178_CR6","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1615\/CritRevOncog.v17.i1.60","volume":"17","author":"K Sheppard","year":"2012","unstructured":"Sheppard, K., Kinross, K. M., Solomon, B., Pearson. R. B. & Phillips, W. A. Targeting PI3 kinase\/AKT\/mTOR signaling in cancer. Crit. Rev. Oncog. 17, 69\u201395 (2012).","journal-title":"Crit. Rev. Oncog."},{"key":"BFnrneurol2012178_CR7","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1111\/j.1528-1167.2009.02341.x","volume":"51","author":"M Wong","year":"2010","unstructured":"Wong, M. Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: from tuberous sclerosis to common acquired epilepsies. Epilepsia 51, 27\u201336 (2010).","journal-title":"Epilepsia"},{"key":"BFnrneurol2012178_CR8","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1056\/NEJMoa1104017","volume":"365","author":"MJ Lindhurst","year":"2011","unstructured":"Lindhurst, M. J.  et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N. Engl. J. Med. 365, 611\u2013619 (2011).","journal-title":"N. Engl. J. Med."},{"key":"BFnrneurol2012178_CR9","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.neuron.2012.03.010","volume":"74","author":"A Poduri","year":"2012","unstructured":"Poduri, A.  et al. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron 74, 41\u201348 (2012).","journal-title":"Neuron"},{"key":"BFnrneurol2012178_CR10","doi-asserted-by":"publisher","first-page":"1181","DOI":"10.1586\/era.11.93","volume":"11","author":"DN Franz","year":"2011","unstructured":"Franz, D. N. Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis. Expert Rev. Anticancer Ther. 11, 1181\u20131192 (2011).","journal-title":"Expert Rev. Anticancer Ther."}],"container-title":["Nature Reviews Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nrneurol.2012.178.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrneurol.2012.178","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrneurol.2012.178.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T05:05:20Z","timestamp":1684472720000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nrneurol.2012.178"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,21]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["BFnrneurol2012178"],"URL":"https:\/\/doi.org\/10.1038\/nrneurol.2012.178","relation":{},"ISSN":["1759-4758","1759-4766"],"issn-type":[{"value":"1759-4758","type":"print"},{"value":"1759-4766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,21]]}}}