{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:18:28Z","timestamp":1790551108651,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T00:00:00Z","timestamp":1518480000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["FEDER FUNDS FIS PI15\/01481"],"award-info":[{"award-number":["FEDER FUNDS FIS PI15\/01481"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,4]]},"abstract":"Smith\u2010Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly\/hemi\/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non\u2010neurological features. Germline or mosaic mutations of the mTOR<\/jats:italic> gene have been detected in all patients. The mTOR<\/jats:italic> gene is a key regulator of cell growth, cell proliferation, protein synthesis and synaptic plasticity, and the mTOR pathway (PI3K\u2010AKT\u2010mTOR) is highly regulated and critical for cell survival and apoptosis. Mutations in different genes in this pathway result in known rare diseases implicated in hemi\/megalencephaly with epilepsy, as the tuberous sclerosis complex caused by mutations in TSC1<\/jats:italic> and TSC2<\/jats:italic>, or the PIK3CA<\/jats:italic>\u2010related overgrowth spectrum (PROS). We here present 4 new cases of SKS, review all clinical and molecular aspects of this disorder, as well as some characteristics of the patients with only brain mTOR<\/jats:italic> somatic mutations.<\/jats:p>","DOI":"10.1111\/cge.13135","type":"journal-article","created":{"date-parts":[[2017,9,11]],"date-time":"2017-09-11T15:28:27Z","timestamp":1505143707000},"page":"762-775","source":"Crossref","is-referenced-by-count":51,"title":["mTOR<\/i> mutations in Smith\u2010Kingsmore syndrome: Four additional patients and a review"],"prefix":"10.1111","volume":"93","author":[{"given":"G.","family":"Gordo","sequence":"first","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) ISCIII Madrid Spain"},{"name":"Molecular Endocrinology Section, Overgrowth Syndromes Laboratory Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Aut\u00f3noma de Madrid (UAM) Madrid Spain"},{"name":"Vascular Malformations Section Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Aut\u00f3noma de Madrid (UAM) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5308-2316","authenticated-orcid":false,"given":"J.","family":"Tenorio","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) ISCIII Madrid Spain"},{"name":"Molecular Endocrinology Section, Overgrowth Syndromes Laboratory Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Aut\u00f3noma de Madrid (UAM) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Arias","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) ISCIII Madrid 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