{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:15:33Z","timestamp":1791396933045,"version":"4.3.3"},"reference-count":72,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T00:00:00Z","timestamp":1562803200000},"content-version":"vor","delay-in-days":375,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"name":"Korean Health Technology R&D Project","award":["H15C3143"],"award-info":[{"award-number":["H15C3143"]}]},{"name":"Korean Health Technology R&D Project","award":["H16C0415"],"award-info":[{"award-number":["H16C0415"]}]},{"name":"Suh Kyungbae Foundation"},{"DOI":"10.13039\/100002736","name":"Citizens United for Research in Epilepsy","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002736","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["AR054396"],"award-info":[{"award-number":["AR054396"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["GM095941"],"award-info":[{"award-number":["GM095941"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["IBS-R002-D1"],"award-info":[{"award-number":["IBS-R002-D1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuron"],"published-print":{"date-parts":[[2018,7]]},"DOI":"10.1016\/j.neuron.2018.05.039","type":"journal-article","created":{"date-parts":[[2018,6,21]],"date-time":"2018-06-21T10:59:41Z","timestamp":1529578781000},"page":"83-97.e7","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":115,"title":["Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination"],"prefix":"10.1016","volume":"99","author":[{"given":"Sang Min","family":"Park","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae Seok","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suresh","family":"Ramakrishina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Se Hoon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Woo Kyeong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junehawk","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoon-Chul","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy F.","family":"Reiter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong Seok","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyongbum (Henry)","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeong Ho","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neuron.2018.05.039_bib1","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1111\/j.1750-3639.2012.00581.x","article-title":"Malformations of cortical development","volume":"22","author":"Aronica","year":"2012","journal-title":"Brain Pathol."},{"key":"10.1016\/j.neuron.2018.05.039_bib2","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.cell.2006.12.021","article-title":"Trekking across the brain: the journey of neuronal migration","volume":"128","author":"Ayala","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.neuron.2018.05.039_bib3","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1038\/nm.3982","article-title":"An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development","volume":"21","author":"Baek","year":"2015","journal-title":"Nat. Med."},{"key":"10.1016\/j.neuron.2018.05.039_bib4","article-title":"Primary cilia and mammalian hedgehog signaling","author":"Bangs","year":"2016","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib5","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1016\/j.neuron.2012.10.027","article-title":"Tangentially migrating neurons assemble a primary cilium that promotes their reorientation to the cortical plate","volume":"76","author":"Baudoin","year":"2012","journal-title":"Neuron"},{"key":"10.1016\/j.neuron.2018.05.039_bib6","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1016\/j.celrep.2015.01.061","article-title":"Wnt signaling regulates multipolar-to-bipolar transition of migrating neurons in the cerebral cortex","volume":"10","author":"Boitard","year":"2015","journal-title":"Cell Rep."},{"key":"10.1016\/j.neuron.2018.05.039_bib7","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1038\/ncb2512","article-title":"miR-129-3p controls cilia assembly by regulating CP110 and actin dynamics","volume":"14","author":"Cao","year":"2012","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib8","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/2051-5960-1-67","article-title":"Focal cortical dysplasias in autism spectrum disorders","volume":"1","author":"Casanova","year":"2013","journal-title":"Acta Neuropathol. Commun."},{"key":"10.1016\/j.neuron.2018.05.039_bib9","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"key":"10.1016\/j.neuron.2018.05.039_bib10","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/j.ajhg.2009.09.002","article-title":"OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin","volume":"85","author":"Coene","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuron.2018.05.039_bib11","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/nature04117","article-title":"Vertebrate smoothened functions at the primary cilium","volume":"437","author":"Corbit","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2018.05.039_bib12","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ncb1670","article-title":"Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms","volume":"10","author":"Corbit","year":"2008","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib13","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/nrneurol.2016.81","article-title":"The mTOR signalling cascade: paving new roads to cure neurological disease","volume":"12","author":"Crino","year":"2016","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.neuron.2018.05.039_bib14","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1002\/ana.24357","article-title":"Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia","volume":"77","author":"D\u2019Gama","year":"2015","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neuron.2018.05.039_bib15","doi-asserted-by":"crossref","first-page":"3754","DOI":"10.1016\/j.celrep.2017.11.106","article-title":"Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias","volume":"21","author":"D\u2019Gama","year":"2017","journal-title":"Cell Rep."},{"key":"10.1016\/j.neuron.2018.05.039_bib16","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1146\/annurev-cellbio-101512-122400","article-title":"Integrative mechanisms of oriented neuronal migration in the developing brain","volume":"29","author":"Evsyukova","year":"2013","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib17","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1086\/318802","article-title":"Identification of the gene for oral-facial-digital type I syndrome","volume":"68","author":"Ferrante","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuron.2018.05.039_bib18","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1128\/MCB.24.1.200-216.2004","article-title":"mTOR controls cell cycle progression through its cell growth effectors S6K1 and 4E-BP1\/eukaryotic translation initiation factor 4E","volume":"24","author":"Fingar","year":"2004","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib19","first-page":"201","article-title":"mTORC1 signaling and primary cilia are required for brain ventricle morphogenesis","volume":"144","author":"Foerster","year":"2017","journal-title":"Development"},{"issue":"Suppl\u00a03","key":"10.1016\/j.neuron.2018.05.039_bib20","first-page":"S14","article-title":"Focal malformations of cortical development","volume":"62","author":"Foldvary-Schaefer","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.neuron.2018.05.039_bib21","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.1038\/ng.2007.12","article-title":"Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response","volume":"39","author":"Gerdes","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuron.2018.05.039_bib22","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/S0166-2236(00)01607-6","article-title":"Neuronal migration disorders: from genetic diseases to developmental mechanisms","volume":"23","author":"Gleeson","year":"2000","journal-title":"Trends Neurosci."},{"key":"10.1016\/j.neuron.2018.05.039_bib23","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/nrg2774","article-title":"The primary cilium: a signalling centre during vertebrate development","volume":"11","author":"Goetz","year":"2010","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.neuron.2018.05.039_bib24","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.neuron.2014.04.024","article-title":"Primary cilia in the developing and mature brain","volume":"82","author":"Guemez-Gamboa","year":"2014","journal-title":"Neuron"},{"key":"10.1016\/j.neuron.2018.05.039_bib25","doi-asserted-by":"crossref","first-page":"7857","DOI":"10.1038\/ncomms8857","article-title":"Developmental disruptions underlying brain abnormalities in ciliopathies","volume":"6","author":"Guo","year":"2015","journal-title":"Nat. Commun."},{"key":"10.1016\/j.neuron.2018.05.039_bib26","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/978-1-60761-753-2_15","article-title":"A rapid and general assay for monitoring endogenous gene modification","volume":"649","author":"Guschin","year":"2010","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib27","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1016\/j.devcel.2012.09.019","article-title":"Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex","volume":"23","author":"Higginbotham","year":"2012","journal-title":"Dev. Cell"},{"key":"10.1016\/j.neuron.2018.05.039_bib28","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1038\/nn.3451","article-title":"Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation","volume":"16","author":"Higginbotham","year":"2013","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuron.2018.05.039_bib29","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.ceb.2016.02.008","article-title":"The primary cilium as a cellular receiver: organizing ciliary GPCR signaling","volume":"39","author":"Hilgendorf","year":"2016","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib30","doi-asserted-by":"crossref","first-page":"11753","DOI":"10.1038\/ncomms11753","article-title":"Convulsive seizures from experimental focal cortical dysplasia occur independently of cell misplacement","volume":"7","author":"Hsieh","year":"2016","journal-title":"Nat. Commun."},{"key":"10.1016\/j.neuron.2018.05.039_bib31","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1038\/ncb1183","article-title":"Mammalian TOR complex 2 controls the actin cytoskeleton and is rapamycin insensitive","volume":"6","author":"Jacinto","year":"2004","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib32","doi-asserted-by":"crossref","first-page":"H2261","DOI":"10.1152\/ajpheart.01056.2010","article-title":"Autophagy limits acute myocardial infarction induced by permanent coronary artery occlusion","volume":"300","author":"Kanamori","year":"2011","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"10.1016\/j.neuron.2018.05.039_bib33","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1101\/gr.089417.108","article-title":"Targeted genome editing in human cells with zinc finger nucleases constructed via modular assembly","volume":"19","author":"Kim","year":"2009","journal-title":"Genome Res."},{"key":"10.1016\/j.neuron.2018.05.039_bib34","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1038\/nature08895","article-title":"Functional genomic screen for modulators of ciliogenesis and cilium length","volume":"464","author":"Kim","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2018.05.039_bib35","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1038\/nmeth.1733","article-title":"Surrogate reporters for enrichment of cells with nuclease-induced mutations","volume":"8","author":"Kim","year":"2011","journal-title":"Nat. Methods"},{"key":"10.1016\/j.neuron.2018.05.039_bib36","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1111\/j.1528-1167.2010.02950.x","article-title":"Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery","volume":"52","author":"Kim","year":"2011","journal-title":"Epilepsia"},{"key":"10.1016\/j.neuron.2018.05.039_bib37","doi-asserted-by":"crossref","first-page":"6781","DOI":"10.1038\/ncomms7781","article-title":"Actin remodelling factors control ciliogenesis by regulating YAP\/TAZ activity and vesicle trafficking","volume":"6","author":"Kim","year":"2015","journal-title":"Nat. Commun."},{"key":"10.1016\/j.neuron.2018.05.039_bib38","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1038\/nn.3870","article-title":"FMRP regulates multipolar to bipolar transition affecting neuronal migration and cortical circuitry","volume":"17","author":"La Fata","year":"2014","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuron.2018.05.039_bib39","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.cell.2012.03.017","article-title":"mTOR signaling in growth control and disease","volume":"149","author":"Laplante","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.neuron.2018.05.039_bib40","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.nbd.2009.12.022","article-title":"The role of primary cilia in neuronal function","volume":"38","author":"Lee","year":"2010","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neuron.2018.05.039_bib41","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1038\/ng.2329","article-title":"De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly","volume":"44","author":"Lee","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuron.2018.05.039_bib42","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1126\/science.1213506","article-title":"Evolutionarily assembled cis-regulatory module at a human ciliopathy locus","volume":"335","author":"Lee","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.neuron.2018.05.039_bib43","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.neuroscience.2013.07.037","article-title":"Focal malformations of cortical development: new vistas for molecular pathogenesis","volume":"252","author":"Lim","year":"2013","journal-title":"Neuroscience"},{"key":"10.1016\/j.neuron.2018.05.039_bib44","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/nm.3824","article-title":"Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy","volume":"21","author":"Lim","year":"2015","journal-title":"Nat. Med."},{"key":"10.1016\/j.neuron.2018.05.039_bib45","doi-asserted-by":"crossref","first-page":"6010","DOI":"10.1038\/srep06010","article-title":"The crucial role of Atg5 in cortical neurogenesis during early brain development","volume":"4","author":"Lv","year":"2014","journal-title":"Sci. Rep."},{"key":"10.1016\/j.neuron.2018.05.039_bib46","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/2046-2530-1-7","article-title":"Cilia, Wnt signaling, and the cytoskeleton","volume":"1","author":"May-Simera","year":"2012","journal-title":"Cilia"},{"key":"10.1016\/j.neuron.2018.05.039_bib47","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1001\/jamaneurol.2016.0363","article-title":"Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism","volume":"73","author":"Mirzaa","year":"2016","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.neuron.2018.05.039_bib48","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/26506","article-title":"A protein conjugation system essential for autophagy","volume":"395","author":"Mizushima","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2018.05.039_bib49","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1083\/jcb.152.4.657","article-title":"Dissection of autophagosome formation using Apg5-deficient mouse embryonic stem cells","volume":"152","author":"Mizushima","year":"2001","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib50","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1212\/NXG.0000000000000118","article-title":"Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy","volume":"2","author":"M\u00f8ller","year":"2016","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.neuron.2018.05.039_bib51","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1523\/JNEUROSCI.5404-10.2011","article-title":"Wnt signaling regulates neuronal differentiation of cortical intermediate progenitors","volume":"31","author":"Munji","year":"2011","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.neuron.2018.05.039_bib52","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1101\/gad.302679.117","article-title":"APC sets the Wnt tone necessary for cerebral cortical progenitor development","volume":"31","author":"Nakagawa","year":"2017","journal-title":"Genes Dev."},{"key":"10.1016\/j.neuron.2018.05.039_bib53","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/ana.24444","article-title":"Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb","volume":"78","author":"Nakashima","year":"2015","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neuron.2018.05.039_bib54","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1038\/ncb2345","article-title":"The centrosome cycle: Centriole biogenesis, duplication and inherent asymmetries","volume":"13","author":"Nigg","year":"2011","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib55","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/B978-0-444-52891-9.00058-0","article-title":"Focal malformations of cortical development: a most relevant etiology of epilepsy in children","volume":"111","author":"Palmini","year":"2013","journal-title":"Handb. Clin. Neurol."},{"key":"10.1016\/j.neuron.2018.05.039_bib56","doi-asserted-by":"crossref","first-page":"3378","DOI":"10.1038\/ncomms4378","article-title":"Surrogate reporter-based enrichment of cells containing RNA-guided Cas9 nuclease-induced mutations","volume":"5","author":"Ramakrishna","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.neuron.2018.05.039_bib57","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1101\/gr.171264.113","article-title":"Gene disruption by cell-penetrating peptide-mediated delivery of Cas9 protein and guide RNA","volume":"24","author":"Ramakrishna","year":"2014","journal-title":"Genome Res."},{"key":"10.1016\/j.neuron.2018.05.039_bib58","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/nrm.2017.60","article-title":"Genes and molecular pathways underpinning ciliopathies","volume":"18","author":"Reiter","year":"2017","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib59","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/acn3.300","article-title":"Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma","volume":"3","author":"Saitsu","year":"2016","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.neuron.2018.05.039_bib60","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1016\/j.cub.2004.06.054","article-title":"Rictor, a novel binding partner of mTOR, defines a rapamycin-insensitive and raptor-independent pathway that regulates the cytoskeleton","volume":"14","author":"Sarbassov","year":"2004","journal-title":"Curr. Biol."},{"key":"10.1016\/j.neuron.2018.05.039_bib61","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/1098-2779(2000)6:4<268::AID-MRDD6>3.0.CO;2-B","article-title":"Cortical malformations and epilepsy","volume":"6","author":"Schwartzkroin","year":"2000","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"10.1016\/j.neuron.2018.05.039_bib62","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1091\/mbc.e10-03-0269","article-title":"Soluble levels of cytosolic tubulin regulate ciliary length control","volume":"22","author":"Sharma","year":"2011","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.neuron.2018.05.039_bib63","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1038\/nmeth.1406","article-title":"Floxin, a resource for genetically engineering mouse ESCs","volume":"7","author":"Singla","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.neuron.2018.05.039_bib64","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.devcel.2009.12.022","article-title":"Ofd1, a human disease gene, regulates the length and distal structure of centrioles","volume":"18","author":"Singla","year":"2010","journal-title":"Dev. Cell"},{"key":"10.1016\/j.neuron.2018.05.039_bib65","doi-asserted-by":"crossref","first-page":"5971","DOI":"10.1093\/emboj\/20.21.5971","article-title":"The pre-autophagosomal structure organized by concerted functions of APG genes is essential for autophagosome formation","volume":"20","author":"Suzuki","year":"2001","journal-title":"EMBO J."},{"key":"10.1016\/j.neuron.2018.05.039_bib66","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/S0306-4522(01)00016-1","article-title":"Efficient in utero gene transfer system to the developing mouse brain using electroporation: Visualization of neuronal migration in the developing cortex","volume":"103","author":"Tabata","year":"2001","journal-title":"Neuroscience"},{"key":"10.1016\/j.neuron.2018.05.039_bib67","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1038\/nature12606","article-title":"Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites","volume":"502","author":"Tang","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2018.05.039_bib68","doi-asserted-by":"crossref","first-page":"10380","DOI":"10.1073\/pnas.0403954101","article-title":"Cre-lox-regulated conditional RNA interference from transgenes","volume":"101","author":"Ventura","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2018.05.039_bib69","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.15252\/embr.201338343","article-title":"Autophagy-related gene Atg5 is essential for astrocyte differentiation in the developing mouse cortex","volume":"15","author":"Wang","year":"2014","journal-title":"EMBO Rep."},{"key":"10.1016\/j.neuron.2018.05.039_bib70","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1007\/s00401-010-0655-4","article-title":"The neuropathology of autism: Defects of neurogenesis and neuronal migration, and dysplastic changes","volume":"119","author":"Wegiel","year":"2010","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neuron.2018.05.039_bib71","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s00401-013-1135-4","article-title":"mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis","volume":"126","author":"Yasin","year":"2013","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neuron.2018.05.039_bib72","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/ana.21331","article-title":"Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex","volume":"63","author":"Zeng","year":"2008","journal-title":"Ann. Neurol."}],"container-title":["Neuron"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0896627318304379?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0896627318304379?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T07:13:31Z","timestamp":1760253211000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0896627318304379"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":72,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["S0896627318304379"],"URL":"https:\/\/doi.org\/10.1016\/j.neuron.2018.05.039","relation":{},"ISSN":["0896-6273"],"issn-type":[{"value":"0896-6273","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination","name":"articletitle","label":"Article Title"},{"value":"Neuron","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neuron.2018.05.039","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Inc.","name":"copyright","label":"Copyright"}]}}