{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T07:02:12Z","timestamp":1791356532112,"version":"4.3.1"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2017,5,18]],"date-time":"2017-05-18T00:00:00Z","timestamp":1495065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2017,5,18]],"date-time":"2017-05-18T00:00:00Z","timestamp":1495065600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1038\/jhg.2017.53","type":"journal-article","created":{"date-parts":[[2017,5,18]],"date-time":"2017-05-18T06:20:23Z","timestamp":1495088423000},"page":"861-863","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate"],"prefix":"10.1038","volume":"62","author":[{"given":"Koji","family":"Kato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuyuki","family":"Miya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikumi","family":"Hori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Ieda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Negishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayako","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuhiko","family":"Tsunoda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mami","family":"Yamasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonehiro","family":"Kanemura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6911-3351","authenticated-orcid":false,"given":"Shinji","family":"Saitoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,5,18]]},"reference":[{"key":"BFjhg201753_CR1","doi-asserted-by":"publisher","first-page":"1348","DOI":"10.1093\/brain\/aws019","volume":"135","author":"AJ Barkovich","year":"2012","unstructured":"Barkovich, A. J., Guerrini, R., Kuzniecky, R. I., Jackson, G. D. & Dobyns, W. B. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 135, 1348\u20131369 (2012).","journal-title":"Brain"},{"key":"BFjhg201753_CR2","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1016\/S1474-4422(14)70040-7","volume":"13","author":"R Guerrini","year":"2014","unstructured":"Guerrini, R. & Dobyns, W. B. Malformations of cortical development: clinical and genetic causes. Lancet Neurol. 13, 710\u2013726 (2014).","journal-title":"Lancet Neurol."},{"key":"BFjhg201753_CR3","doi-asserted-by":"publisher","first-page":"1182","DOI":"10.1016\/S1474-4422(15)00278-1","volume":"14","author":"GM Mirzaa","year":"2015","unstructured":"Mirzaa, G. M., Conti, V., Timms, A. E., Smyser, C. D., Ahmed, S., Carter, M. et al. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: next-generation sequencing study. Lancet Neurol. 14, 1182\u20131195 (2015).","journal-title":"Lancet Neurol."},{"key":"BFjhg201753_CR4","doi-asserted-by":"publisher","first-page":"1613","DOI":"10.1093\/brain\/awv045","volume":"138","author":"LA Jansen","year":"2015","unstructured":"Jansen, L. A., Mirzaa, G. M., Ishak, G. E., O\u2019Roak, B. J., Hiatt, J. B., Roden, W. H. et al. PI3K\/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain 138, 1613\u20131628 (2015).","journal-title":"Brain"},{"key":"BFjhg201753_CR5","doi-asserted-by":"publisher","first-page":"1349","DOI":"10.1038\/ng.3676","volume":"48","author":"L Briox","year":"2016","unstructured":"Briox, L., Jagline, H., Ivanova, L., Schmucker, S., Drouot, N., Clayton-Smith, J. et al. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nat. Genet. 48, 1349\u20131358 (2016).","journal-title":"Nat. Genet."},{"key":"BFjhg201753_CR6","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1038\/jhg.2016.113","volume":"62","author":"S Benito-Sanz","year":"2017","unstructured":"Benito-Sanz, S., Belinchon-Martinez, A., Aza-Carmona, M., de la Torre, C., Huber, C., Gonzalez-Casado, I. et al. Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region. J. Hum. Genet. 62, 229\u2013234 (2017).","journal-title":"J. Hum. Genet."},{"key":"BFjhg201753_CR7","doi-asserted-by":"publisher","first-page":"1863","DOI":"10.1002\/ajmg.a.37653","volume":"170","author":"I Hori","year":"2016","unstructured":"Hori, I., Miya, F., Ohashi, K., Negishi, Y., Hattori, A., Ando, N. et al. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Am. J. Med. Genet. A 170, 1863\u20131867 (2016).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFjhg201753_CR8","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1186\/s12881-016-0363-6","volume":"18","author":"Y Negishi","year":"2017","unstructured":"Negishi, Y., Miya, F., Hattori, A., Jojmura, Y., Nakagawa, M., Ando, N. et al. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. BMC Med. Genet. 18, 4 (2017).","journal-title":"BMC Med. Genet."},{"key":"BFjhg201753_CR9","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1038\/bmt.2012.244","volume":"48","author":"Y Kanda","year":"2012","unstructured":"Kanda, Y. Investigation of the freely-available easy-to-use software \u201cEZR\u201d (Easy R) for medical statistics. Bone Marrow Transplant. 48, 452\u2013458 (2012).","journal-title":"Bone Marrow Transplant."},{"key":"BFjhg201753_CR10","doi-asserted-by":"publisher","first-page":"1261","DOI":"10.1016\/j.cell.2007.06.009","volume":"129","author":"BD Manning","year":"2007","unstructured":"Manning, B. D. & Cantley, L. C. AKT\/PKB signaling: navigating downstream. Cell 129, 1261\u20131274 (2007).","journal-title":"Cell"},{"key":"BFjhg201753_CR11","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1186\/s13023-015-0331-9","volume":"10","author":"M Lange","year":"2015","unstructured":"Lange, M., Kasper, B., Bohring, A., Rutsch, F., Kluger, G., Hoffjan, S. et al. 47 Patients with FLNA associated periventricular nodular heterotopia. Orphanet J. Rare Dis. 10, 134 (2015).","journal-title":"Orphanet J. Rare Dis."}],"updated-by":[{"DOI":"10.1038\/s10038-019-0610-8","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2019,4,26]],"date-time":"2019-04-26T00:00:00Z","timestamp":1556236800000}}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/jhg201753.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/jhg201753","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/jhg.2017.53","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/www.nature.com\/articles\/jhg201753.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T03:05:09Z","timestamp":1641006309000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201753"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,18]]},"references-count":11,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["BFjhg201753"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2017.53","relation":{"correction":[{"id-type":"doi","id":"10.1038\/s10038-019-0610-8","asserted-by":"object"}]},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,18]]},"assertion":[{"value":"27 March 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 April 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 April 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 May 2017","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}