{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T11:09:50Z","timestamp":1790161790557,"version":"4.1.0"},"reference-count":90,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100013143","name":"Manton Center for Orphan Disease Research, Boston Children's Hospital","doi-asserted-by":"publisher","award":["R01MH083565"],"award-info":[{"award-number":["R01MH083565"]}],"id":[{"id":"10.13039\/100013143","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013143","name":"Manton Center for Orphan Disease Research, Boston Children's Hospital","doi-asserted-by":"publisher","award":["1RC2MH089952"],"award-info":[{"award-number":["1RC2MH089952"]}],"id":[{"id":"10.13039\/100013143","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013143","name":"Manton Center for Orphan Disease Research, Boston Children's Hospital","doi-asserted-by":"publisher","award":["R01NS079277"],"award-info":[{"award-number":["R01NS079277"]}],"id":[{"id":"10.13039\/100013143","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013143","name":"Manton Center for Orphan Disease Research, Boston Children's Hospital","doi-asserted-by":"publisher","award":["R01NS035129"],"award-info":[{"award-number":["R01NS035129"]}],"id":[{"id":"10.13039\/100013143","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013143","name":"Manton Center for Orphan Disease Research, Boston Children's Hospital","doi-asserted-by":"publisher","award":["R01NS032457"],"award-info":[{"award-number":["R01NS032457"]}],"id":[{"id":"10.13039\/100013143","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["R01MH083565"],"award-info":[{"award-number":["R01MH083565"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["1RC2MH089952"],"award-info":[{"award-number":["1RC2MH089952"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["R01NS079277"],"award-info":[{"award-number":["R01NS079277"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["R01NS035129"],"award-info":[{"award-number":["R01NS035129"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["R01NS032457"],"award-info":[{"award-number":["R01NS032457"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000952","name":"Paul G. Allen Family Foundation","doi-asserted-by":"publisher","award":["R01MH083565"],"award-info":[{"award-number":["R01MH083565"]}],"id":[{"id":"10.13039\/100000952","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000952","name":"Paul G. Allen Family Foundation","doi-asserted-by":"publisher","award":["1RC2MH089952"],"award-info":[{"award-number":["1RC2MH089952"]}],"id":[{"id":"10.13039\/100000952","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000952","name":"Paul G. Allen Family Foundation","doi-asserted-by":"publisher","award":["R01NS079277"],"award-info":[{"award-number":["R01NS079277"]}],"id":[{"id":"10.13039\/100000952","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000952","name":"Paul G. Allen Family Foundation","doi-asserted-by":"publisher","award":["R01NS035129"],"award-info":[{"award-number":["R01NS035129"]}],"id":[{"id":"10.13039\/100000952","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000952","name":"Paul G. Allen Family Foundation","doi-asserted-by":"publisher","award":["R01NS032457"],"award-info":[{"award-number":["R01NS032457"]}],"id":[{"id":"10.13039\/100000952","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","award":["R01MH083565"],"award-info":[{"award-number":["R01MH083565"]}],"id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","award":["1RC2MH089952"],"award-info":[{"award-number":["1RC2MH089952"]}],"id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","award":["R01NS079277"],"award-info":[{"award-number":["R01NS079277"]}],"id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","award":["R01NS035129"],"award-info":[{"award-number":["R01NS035129"]}],"id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","award":["R01NS032457"],"award-info":[{"award-number":["R01NS032457"]}],"id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01MH083565"],"award-info":[{"award-number":["R01MH083565"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1RC2MH089952"],"award-info":[{"award-number":["1RC2MH089952"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS079277"],"award-info":[{"award-number":["R01NS079277"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS035129"],"award-info":[{"award-number":["R01NS035129"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS032457"],"award-info":[{"award-number":["R01NS032457"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","theclinics.com","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Clinics of North America"],"published-print":{"date-parts":[[2015,6]]},"DOI":"10.1016\/j.pcl.2015.03.002","type":"journal-article","created":{"date-parts":[[2015,4,6]],"date-time":"2015-04-06T02:45:34Z","timestamp":1428288334000},"page":"571-585","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":36,"title":["Genomic Variants and Variations in Malformations of Cortical Development"],"prefix":"10.1016","volume":"62","author":[{"given":"Saumya S.","family":"Jamuar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher A.","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.pcl.2015.03.002_bib1","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1146\/annurev-genom-090413-025600","article-title":"The diverse genetic landscape of neurodevelopmental disorders","volume":"15","author":"Hu","year":"2014","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib2","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1093\/brain\/aws019","article-title":"A\u00a0developmental and genetic classification for malformations of cortical development: update 2012","volume":"135","author":"Barkovich","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.pcl.2015.03.002_bib3","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/S1474-4422(14)70040-7","article-title":"Malformations of cortical development: clinical features and genetic causes","volume":"13","author":"Guerrini","year":"2014","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.pcl.2015.03.002_bib4","doi-asserted-by":"crossref","first-page":"1237758","DOI":"10.1126\/science.1237758","article-title":"Somatic mutation, genomic variation, and neurological disease","volume":"341","author":"Poduri","year":"2013","journal-title":"Science"},{"key":"10.1016\/j.pcl.2015.03.002_bib5","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nrg3424","article-title":"A\u00a0genomic view of mosaicism and human disease","volume":"14","author":"Biesecker","year":"2013","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib6","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1038\/nrn3586","article-title":"Molecular logic of neocortical projection neuron specification, development and diversity","volume":"14","author":"Greig","year":"2013","journal-title":"Nat Rev Neurosci"},{"key":"10.1016\/j.pcl.2015.03.002_bib7","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/S0896-6273(00)00149-5","article-title":"Cell migration from the ganglionic eminences is required for the development of hippocampal GABAergic interneurons","volume":"28","author":"Pleasure","year":"2000","journal-title":"Neuron"},{"key":"10.1016\/j.pcl.2015.03.002_bib8","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1038\/nn.3541","article-title":"Non-epithelial stem cells and cortical interneuron production in the human ganglionic eminences","volume":"16","author":"Hansen","year":"2013","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.pcl.2015.03.002_bib9","doi-asserted-by":"crossref","first-page":"2441","DOI":"10.1242\/dev.124.12.2441","article-title":"Clonal dispersion and evidence for asymmetric cell division in ferret cortex","volume":"124","author":"Reid","year":"1997","journal-title":"Development"},{"key":"10.1016\/j.pcl.2015.03.002_bib10","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/nn1620","article-title":"Competing waves of oligodendrocytes in the forebrain and postnatal elimination of an embryonic lineage","volume":"9","author":"Kessaris","year":"2006","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.pcl.2015.03.002_bib11","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1093\/hmg\/6.4.555","article-title":"Linkage and physical mapping of X-linked lissencephaly\/SBH (XLIS): a gene causing neuronal migration defects in human brain","volume":"6","author":"Ross","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib12","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0092-8674(00)80899-5","article-title":"Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein","volume":"92","author":"Gleeson","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.pcl.2015.03.002_bib13","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1016\/S0896-6273(00)80651-0","article-title":"Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia","volume":"21","author":"Fox","year":"1998","journal-title":"Neuron"},{"key":"10.1016\/j.pcl.2015.03.002_bib14","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/ng0495-347","article-title":"Positional cloning moves from perditional to traditional","volume":"9","author":"Collins","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib15","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng.499","article-title":"Exome sequencing identifies the cause of a mendelian disorder","volume":"42","author":"Ng","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib16","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1016\/S0140-6736(12)61480-9","article-title":"Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study","volume":"380","author":"Rauch","year":"2012","journal-title":"Lancet"},{"key":"10.1016\/j.pcl.2015.03.002_bib17","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1056\/NEJMoa1314432","article-title":"Somatic mutations in cerebral cortical malformations","volume":"371","author":"Jamuar","year":"2014","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.pcl.2015.03.002_bib18","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.pcl.2015.03.002_bib19","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.neuron.2012.03.010","article-title":"Somatic activation of AKT3 causes hemispheric developmental brain malformations","volume":"74","author":"Poduri","year":"2012","journal-title":"Neuron"},{"key":"10.1016\/j.pcl.2015.03.002_bib20","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/wdev.89","article-title":"Genetic causes of microcephaly and lessons for neuronal development","volume":"2","author":"Gilmore","year":"2013","journal-title":"Wiley Interdiscip Rev Dev Biol"},{"key":"10.1016\/j.pcl.2015.03.002_bib21","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.tig.2009.09.011","article-title":"Primary microcephaly: do all roads lead to Rome?","volume":"25","author":"Thornton","year":"2009","journal-title":"Trends Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib22","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.ajhg.2011.04.003","article-title":"Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]","volume":"88","author":"Alkuraya","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib23","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1002\/ajmg.a.32312","article-title":"Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally","volume":"146A","author":"Desir","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.pcl.2015.03.002_bib24","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.ajhg.2009.01.017","article-title":"Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly","volume":"84","author":"Kumar","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib25","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/ng.683","article-title":"Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture","volume":"42","author":"Yu","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib26","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.neuron.2004.09.023","article-title":"Mitotic spindle regulation by Nde1 controls cerebral cortical size","volume":"44","author":"Feng","year":"2004","journal-title":"Neuron"},{"key":"10.1016\/j.pcl.2015.03.002_bib27","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/ng.526","article-title":"Mutations in PNKP cause microcephaly, seizures and defects in DNA repair","volume":"42","author":"Shen","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib28","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/ng.2007.80","article-title":"Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling","volume":"40","author":"Griffith","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib29","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/ng1276","article-title":"Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex","volume":"36","author":"Sheen","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib30","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1212\/WNL.0b013e3181b8799a","article-title":"Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations","volume":"73","author":"Passemard","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.pcl.2015.03.002_bib31","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1073\/pnas.0908454107","article-title":"Sex-dependent association of common variants of microcephaly genes with brain structure","volume":"107","author":"Rimol","year":"2010","journal-title":"Proc Natl Acad Sci U\u00a0S\u00a0A"},{"key":"10.1016\/j.pcl.2015.03.002_bib32","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1038\/ng.194","article-title":"Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum","volume":"40","author":"Najm","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib33","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib34","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ng0197-70","article-title":"UBE3A\/E6-AP mutations cause Angelman syndrome","volume":"15","author":"Kishino","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib35","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1093\/brain\/awq287","article-title":"Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia","volume":"134","author":"Namavar","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.pcl.2015.03.002_bib36","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.ajhg.2014.03.003","article-title":"Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures","volume":"94","author":"Zhang","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib37","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1055\/s-2004-830497","article-title":"Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures","volume":"35","author":"Mirzaa","year":"2004","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.pcl.2015.03.002_bib38","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"},{"key":"10.1016\/j.pcl.2015.03.002_bib39","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1016\/j.celrep.2014.07.043","article-title":"Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain","volume":"8","author":"Cai","year":"2014","journal-title":"Cell Rep"},{"key":"10.1016\/j.pcl.2015.03.002_bib40","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/ng0897-333","article-title":"Germline mutations in PTEN are present in Bannayan-Zonana syndrome","volume":"16","author":"Marsh","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib41","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1111\/epi.12650","article-title":"Pathogenetic mechanisms of focal cortical dysplasia","volume":"55","author":"Marin-Valencia","year":"2014","journal-title":"Epilepsia"},{"key":"10.1016\/j.pcl.2015.03.002_bib42","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.1528-1167.2010.02777.x","article-title":"The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task\u00a0Force of the ILAE Diagnostic Methods Commission","volume":"52","author":"Blumcke","year":"2011","journal-title":"Epilepsia"},{"key":"10.1016\/j.pcl.2015.03.002_bib43","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/2051-5960-2-71","article-title":"Evidence for mTOR pathway activation in a spectrum of epilepsy-associated pathologies","volume":"2","author":"Liu","year":"2014","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/j.pcl.2015.03.002_bib44","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1002\/ana.24126","article-title":"Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations","volume":"75","author":"Scheffer","year":"2014","journal-title":"Ann Neurol"},{"key":"10.1016\/j.pcl.2015.03.002_bib45","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1212\/01.WNL.0000149512.79621.DF","article-title":"Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome","volume":"64","author":"Sheen","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.pcl.2015.03.002_bib46","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/ejhg.2012.209","article-title":"Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A","volume":"21","author":"Reinstein","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib47","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.ajhg.2013.01.008","article-title":"Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia","volume":"92","author":"Zahrani","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib48","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/j.ajhg.2013.02.004","article-title":"Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia","volume":"92","author":"Akizu","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib49","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.nbd.2009.02.008","article-title":"Neuronal migration disorders","volume":"38","author":"Guerrini","year":"2010","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.pcl.2015.03.002_bib50","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1038\/ejhg.2008.213","article-title":"Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia","volume":"17","author":"Haverfield","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib51","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1093\/brain\/aws323","article-title":"New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum","volume":"136","author":"Bahi-Buisson","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.pcl.2015.03.002_bib52","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1001\/archneurol.2009.149","article-title":"LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity","volume":"66","author":"Saillour","year":"2009","journal-title":"Arch Neurol"},{"key":"10.1016\/j.pcl.2015.03.002_bib53","doi-asserted-by":"crossref","first-page":"34442","DOI":"10.1074\/jbc.M007078200","article-title":"Patient mutations in doublecortin define a repeated tubulin-binding domain","volume":"275","author":"Taylor","year":"2000","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.pcl.2015.03.002_bib54","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.cell.2006.12.017","article-title":"Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans","volume":"128","author":"Keays","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.pcl.2015.03.002_bib55","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/ng.2613","article-title":"Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly","volume":"45","author":"Poirier","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib56","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/ana.21482","article-title":"Brain involvement in muscular dystrophies with defective dystroglycan glycosylation","volume":"64","author":"Clement","year":"2008","journal-title":"Ann Neurol"},{"key":"10.1016\/j.pcl.2015.03.002_bib57","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.gde.2011.02.001","article-title":"Dystroglycanopathies: coming into focus","volume":"21","author":"Godfrey","year":"2011","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.pcl.2015.03.002_bib58","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1086\/324412","article-title":"Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan","volume":"69","author":"Brockington","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib59","doi-asserted-by":"crossref","first-page":"2851","DOI":"10.1093\/hmg\/10.25.2851","article-title":"Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C","volume":"10","author":"Brockington","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib60","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1001\/archneur.63.2.251","article-title":"Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations","volume":"63","author":"Mercuri","year":"2006","journal-title":"Arch Neurol"},{"key":"10.1016\/j.pcl.2015.03.002_bib61","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1002\/ajmg.a.32114","article-title":"A\u00a0new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family","volume":"146A","author":"Al-Gazali","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.pcl.2015.03.002_bib62","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/ng.2007.45","article-title":"Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2","volume":"40","author":"Kornak","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib63","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1126\/science.1092780","article-title":"G\u00a0protein-coupled receptor-dependent development of human frontal cortex","volume":"303","author":"Piao","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.pcl.2015.03.002_bib64","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1002\/ajmg.a.32708","article-title":"The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects","volume":"149A","author":"Snape","year":"2009","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.pcl.2015.03.002_bib65","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/ajmg.a.20437","article-title":"Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes","volume":"125A","author":"Gleeson","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.pcl.2015.03.002_bib66","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1086\/431244","article-title":"Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems","volume":"77","author":"Brooks","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib67","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1038\/ejhg.2010.79","article-title":"New RAB3GAP1 mutations in patients with Warburg Micro syndrome from different ethnic backgrounds and a possible founder effect in the Danish","volume":"18","author":"Morris-Rosendahl","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib68","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s00439-010-0896-2","article-title":"A\u00a0homozygous RAB3GAP2 mutation causes Warburg Micro syndrome","volume":"129","author":"Borck","year":"2011","journal-title":"Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib69","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.braindev.2003.11.011","article-title":"Aicardi syndrome","volume":"27","author":"Aicardi","year":"2005","journal-title":"Brain Dev"},{"key":"10.1016\/j.pcl.2015.03.002_bib70","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/j.ajhg.2009.10.007","article-title":"Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia","volume":"85","author":"Abdollahi","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib71","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1038\/ng.380","article-title":"Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria","volume":"41","author":"Jaglin","year":"2009","journal-title":"Nat Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib72","doi-asserted-by":"crossref","first-page":"4462","DOI":"10.1093\/hmg\/ddq377","article-title":"Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects","volume":"19","author":"Poirier","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib73","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1212\/WNL.48.5.1403","article-title":"Familial schizencephaly associated with EMX2 mutation","volume":"48","author":"Granata","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.pcl.2015.03.002_bib74","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1002\/ajmg.a.31767","article-title":"Comprehensive EMX2 genotyping of a large schizencephaly case series","volume":"143A","author":"Tietjen","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.pcl.2015.03.002_bib75","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1002\/ajmg.a.32264","article-title":"No major role for the EMX2 gene in schizencephaly","volume":"146A","author":"Merello","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.pcl.2015.03.002_bib76","first-page":"703","article-title":"Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations","volume":"15","author":"Barkovich","year":"1994","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.pcl.2015.03.002_bib77","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/ajmg.a.30862","article-title":"Schizencephaly: heterogeneous etiologies in a population of 4 million California births","volume":"137","author":"Curry","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.pcl.2015.03.002_bib78","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1136\/jmedgenet-2012-101477","article-title":"High rate of mosaicism in individuals with Cornelia de Lange syndrome","volume":"50","author":"Huisman","year":"2013","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib79","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.pcl.2015.03.002_bib80","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/gim.2013.73","article-title":"ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing","volume":"15","author":"Green","year":"2013","journal-title":"Genet Med"},{"key":"10.1016\/j.pcl.2015.03.002_bib81","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib82","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1038\/gim.2012.136","article-title":"A\u00a0clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents","volume":"15","author":"Wierenga","year":"2013","journal-title":"Genet Med"},{"key":"10.1016\/j.pcl.2015.03.002_bib83","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1007\/s00247-012-2428-9","article-title":"Diffusion tensor imaging and fiber tractography in brain malformations","volume":"43","author":"Poretti","year":"2013","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.pcl.2015.03.002_bib84","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1111\/j.0013-9580.2004.56503.x","article-title":"EEG and MEG source analysis of single and averaged interictal spikes reveals intrinsic epileptogenicity in focal cortical dysplasia","volume":"45","author":"Bast","year":"2004","journal-title":"Epilepsia"},{"key":"10.1016\/j.pcl.2015.03.002_bib85","doi-asserted-by":"crossref","first-page":"110","DOI":"10.3171\/ped.2004.100.2.0110","article-title":"Cortical dysplastic lesions in children with intractable epilepsy: role of complete resection","volume":"100","author":"Hader","year":"2004","journal-title":"J\u00a0Neurosurg"},{"key":"10.1016\/j.pcl.2015.03.002_bib86","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.ajhg.2014.07.003","article-title":"Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders","volume":"95","author":"Campbell","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2015.03.002_bib87","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"},{"key":"10.1016\/j.pcl.2015.03.002_bib88","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1177\/0883073808324535","article-title":"Rapamycin reduces seizure frequency in tuberous sclerosis complex","volume":"24","author":"Muncy","year":"2009","journal-title":"J\u00a0Child Neurol"},{"key":"10.1016\/j.pcl.2015.03.002_bib89","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1056\/NEJMoa1001671","article-title":"Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis","volume":"363","author":"Krueger","year":"2010","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.pcl.2015.03.002_bib90","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1002\/ana.22696","article-title":"Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia","volume":"71","author":"Talos","year":"2012","journal-title":"Ann Neurol"}],"container-title":["Pediatric Clinics of North America"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S003139551500022X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S003139551500022X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,5,4]],"date-time":"2022-05-04T11:03:38Z","timestamp":1651662218000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S003139551500022X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6]]},"references-count":90,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["S003139551500022X"],"URL":"https:\/\/doi.org\/10.1016\/j.pcl.2015.03.002","relation":{},"ISSN":["0031-3955"],"issn-type":[{"value":"0031-3955","type":"print"}],"subject":[],"published":{"date-parts":[[2015,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genomic Variants and Variations in Malformations of Cortical Development","name":"articletitle","label":"Article Title"},{"value":"Pediatric Clinics of North America","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.pcl.2015.03.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}