References
- Andrade DM : Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. Hum Genet 126 : 173-193, 2009 https://doi.org/10.1007/s00439-009-0702-1
- Anton ES, Marchionni MA, Lee KF, Rakic P : Role of GGF/neuregulin signaling in interactions between migrating neurons and radial glia in the developing cerebral cortex. Development 124 : 3501-3510, 1997 https://doi.org/10.1242/dev.124.18.3501
- Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB : A developmental and genetic classification for malformations of cortical development: update 2012. Brain 135 : 1348-1369, 2012 https://doi.org/10.1093/brain/aws019
- Barkovich AJ, Kuzniecky RI : Neuroimaging of focal malformations of cortical development. J Clin Neurophysiol 13 : 481-494, 1996 https://doi.org/10.1097/00004691-199611000-00003
- Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P : A classification scheme for malformations of cortical development. Neuropediatrics 27 : 59-63, 1996 https://doi.org/10.1055/s-2007-973750
- Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB : A developmental and genetic classification for malformations of cortical development. Neurology 65 : 1873-1887, 2005 https://doi.org/10.1212/01.wnl.0000183747.05269.2d
- Barkovich AJ, Raybaud CA : Malformations of cortical development. Neuroimaging Clin N Am 14 : 401-423, 2004 https://doi.org/10.1016/j.nic.2004.04.003
- Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, et al. : Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet 22 : 1746-1754, 2013 https://doi.org/10.1093/hmg/ddt021
- Bystron I, Blakemore C, Rakic P : Development of the human cerebral cortex: Boulder Committee revisited. Nat Rev Neurosci 9 : 110-122, 2008 https://doi.org/10.1038/nrn2252
- Crino PB, Nathanson KL, Henske EP : The tuberous sclerosis complex. N Engl J Med 355 : 1345-1356, 2006 https://doi.org/10.1056/NEJMra055323
- D'Arcangelo G, Miao GG, Chen SC, Soares HD, Morgan JI, Curran T : A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature 374 : 719-723, 1995 https://doi.org/10.1038/374719a0
- Dehay C, Kennedy H : Cell-cycle control and cortical development. Nat Rev Neurosci 8 : 438-450, 2007 https://doi.org/10.1038/nrn2097
- DiLiberti JH : Inherited macrocephaly-hamartoma syndromes. Am J Med Genet 79 : 284-290, 1998 https://doi.org/10.1002/(SICI)1096-8628(19981002)79:4<284::AID-AJMG10>3.0.CO;2-N
- Dulabon L, Olson EC, Taglienti MG, Eisenhuth S, McGrath B, Walsh CA, et al. : Reelin binds alpha3beta1 integrin and inhibits neuronal migration. Neuron 27 : 33-44, 2000 https://doi.org/10.1016/S0896-6273(00)00007-6
- Elias LA, Wang DD, Kriegstein AR : Gap junction adhesion is necessary for radial migration in the neocortex. Nature 448 : 901-907, 2007 https://doi.org/10.1038/nature06063
- Ferland RJ, Batiz LF, Neal J, Lian G, Bundock E, Lu J, et al. : Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum Mol Genet 18 : 497-516, 2009 https://doi.org/10.1093/hmg/ddn377
- Fernandez V, Llinares-Benadero C, Borrell V : Cerebral cortex expansion and folding: what have we learned? EMBO J 35 : 1021-1044, 2016 https://doi.org/10.15252/embj.201593701
- Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, et al. : Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21 : 1315-1325, 1998 https://doi.org/10.1016/S0896-6273(00)80651-0
- Gross RE, Mehler MF, Mabie PC, Zang Z, Santschi L, Kessler JA : Bone morphogenetic proteins promote astroglial lineage commitment by mammalian subventricular zone progenitor cells. Neuron 17 : 595-606, 1996 https://doi.org/10.1016/S0896-6273(00)80193-2
- Gruber R, Zhou Z, Sukchev M, Joerss T, Frappart PO, Wang ZQ : MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway. Nat Cell Biol 13 : 1325-1334, 2011 https://doi.org/10.1038/ncb2342
- Guerrini R, Dobyns WB, Barkovich AJ : Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci 31 : 154-162, 2008 https://doi.org/10.1016/j.tins.2007.12.004
- Guerrini R, Marini C : Genetic malformations of cortical development. Exp Brain Res 173 : 322-333, 2006 https://doi.org/10.1007/s00221-006-0501-z
- Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, et al. : Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene. Neurogenetics 7 : 105-110, 2006 https://doi.org/10.1007/s10048-006-0042-4
- Hansen DV, Lui JH, Parker PR, Kriegstein AR : Neurogenic radial glia in the outer subventricular zone of human neocortex. Nature 464 : 554-561, 2010 https://doi.org/10.1038/nature08845
- Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, et al. : Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 71 : 136-142, 2002 https://doi.org/10.1086/341283
- Klyachko VA, Stevens CF : Connectivity optimization and the positioning of cortical areas. Proc Natl Acad Sci U S A 100 : 7937-7941, 2003 https://doi.org/10.1073/pnas.0932745100
- Kriegstein AR : Constructing circuits: neurogenesis and migration in the developing neocortex. Epilepsia 46 Suppl 7 : 15-21, 2005 https://doi.org/10.1111/j.1528-1167.2005.00304.x
- Kriegstein AR, Noctor SC : Patterns of neuronal migration in the embryonic cortex. Trends Neurosci 27 : 392-399, 2004 https://doi.org/10.1016/j.tins.2004.05.001
- Kumar A, Blanton SH, Babu M, Markandaya M, Girimaji SC : Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. Clin Genet 66 : 341-348, 2004 https://doi.org/10.1111/j.1399-0004.2004.00304.x
- Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, et al. : De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 44 : 941-945, 2012 https://doi.org/10.1038/ng.2329
- Luo R, Jeong SJ, Jin Z, Strokes N, Li S, Piao X : G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. Proc Natl Acad Sci U S A 108 : 12925-12930, 2011 https://doi.org/10.1073/pnas.1104821108
- Machon O, van den Bout CJ, Backman M, Kemler R, Krauss S : Role of beta-catenin in the developing cortical and hippocampal neuroepithelium. Neuroscience 122 : 129-143, 2003 https://doi.org/10.1016/S0306-4522(03)00519-0
- Morris-Rosendahl DJ, Najm J, Lachmeijer AM, Sztriha L, Martins M, Kuechler A, et al. : Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clin Genet 74 : 425-433, 2008 https://doi.org/10.1111/j.1399-0004.2008.01093.x
- Nadarajah B, Parnavelas JG : Modes of neuronal migration in the developing cerebral cortex. Nat Rev Neurosci 3 : 423-432, 2002 https://doi.org/10.1038/nrn845
- O'Leary DD, Borngasser D : Cortical ventricular zone progenitors and their progeny maintain spatial relationships and radial patterning during preplate development indicating an early protomap. Cereb Cortex 16 Suppl 1 : i46-i56, 2006 https://doi.org/10.1093/cercor/bhk019
- Olson EC, Walsh CA : Smooth, rough and upside-down neocortical development. Curr Opin Genet Dev 12 : 320-327, 2002 https://doi.org/10.1016/S0959-437X(02)00305-2
- Palmini A, Najm I, Avanzini G, Babb T, Guerrini R, Foldvary-Schaefer N, et al. : Terminology and classification of the cortical dysplasias. Neurology 62(6 Suppl 3) : S2-S8, 2004
- Phoenix TN, Temple S : Spred1, a negative regulator of Ras-MAPK-ERK, is enriched in CNS germinal zones, dampens NSC proliferation, and maintains ventricular zone structure. Genes Dev 24 : 45-56, 2010 https://doi.org/10.1101/gad.1839510
- Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, et al. : LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 7 : 2029-2037, 1998 https://doi.org/10.1093/hmg/7.13.2029
- Pontious A, Kowalczyk T, Englund C, Hevner RF : Role of intermediate progenitor cells in cerebral cortex development. Dev Neurosci 30 : 24-32, 2008 https://doi.org/10.1159/000109848
- Rakic P : A small step for the cell, a giant leap for mankind: a hypothesis of neocortical expansion during evolution. Trends Neurosci 18 : 383-388, 1995 https://doi.org/10.1016/0166-2236(95)93934-P
- Rash BG, Lim HD, Breunig JJ, Vaccarino FM : FGF signaling expands embryonic cortical surface area by regulating Notch-dependent neurogenesis. J Neurosci 31 : 15604-15617, 2011 https://doi.org/10.1523/JNEUROSCI.4439-11.2011
- Rash BG, Tomasi S, Lim HD, Suh CY, Vaccarino FM : Cortical gyrification induced by fibroblast growth factor 2 in the mouse brain. J Neurosci 33 : 10802-10814, 2013 https://doi.org/10.1523/JNEUROSCI.3621-12.2013
- Raybaud C, Widjaja E : Development and dysgenesis of the cerebral cortex: malformations of cortical development. Neuroimaging Clin N Am 21 : 483-543, vii, 2011 https://doi.org/10.1016/j.nic.2011.05.014
- Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, et al. : De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 44 : 934-940, 2012 https://doi.org/10.1038/ng.2331
- Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, et al. : SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 15 : 1195-1207, 2006 https://doi.org/10.1093/hmg/ddl035
- Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, et al. : Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nat Genet 44 : 581-585, 2012 https://doi.org/10.1038/ng.2253
- Sahara S, O'Leary DD : Fgf10 regulates transition period of cortical stem cell differentiation to radial glia controlling generation of neurons and basal progenitors. Neuron 63 : 48-62, 2009 https://doi.org/10.1016/j.neuron.2009.06.006
- Sarkisian MR, Bartley CM, Chi H, Nakamura F, Hashimoto-Torii K, Torii M, et al. : MEKK4 signaling regulates filamin expression and neuronal migration. Neuron 52 : 789-801, 2006 https://doi.org/10.1016/j.neuron.2006.10.024
- Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, et al. : Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet 10 : 1775-1783, 2001 https://doi.org/10.1093/hmg/10.17.1775
- Sheen VL, Walsh CA : Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. Clin Med Res 3 : 229-233, 2005 https://doi.org/10.3121/cmr.3.4.229
- Siegenthaler JA, Ashique AM, Zarbalis K, Patterson KP, Hecht JH, Kane MA, et al. : Retinoic acid from the meninges regulates cortical neuron generation. Cell 139 : 597-609, 2009 https://doi.org/10.1016/j.cell.2009.10.004
- Sun T, Hevner RF : Growth and folding of the mammalian cerebral cortex: from molecules to malformations. Nat Rev Neurosci 15 : 217-232, 2014 https://doi.org/10.1038/nrn3707
- Super H, Soriano E, Uylings HB : The functions of the preplate in development and evolution of the neocortex and hippocampus. Brain Res Brain Res Rev 27 : 40-64, 1998 https://doi.org/10.1016/S0165-0173(98)00005-8
- van Reeuwijk J, Brunner HG, van Bokhoven H : Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet 67 : 281-289, 2005 https://doi.org/10.1111/j.1399-0004.2004.00368.x
- Walsh CA : Genetic malformations of the human cerebral cortex. Neuron 23 : 19-29, 1999 https://doi.org/10.1016/S0896-6273(00)80749-7
- Walsh CA : Neuroscience in the post-genome era: an overview. Trends Neurosci 24 : 363-364, 2001 https://doi.org/10.1016/S0166-2236(00)01866-X
- Wang X, Tsai JW, LaMonica B, Kriegstein AR : A new subtype of progenitor cell in the mouse embryonic neocortex. Nat Neurosci 14 : 555-561, 2011 https://doi.org/10.1038/nn.2807
- Woods CG, Bond J, Enard W : Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet 76 : 717-728, 2005 https://doi.org/10.1086/429930
- Yamamoto T, Kato Y, Karita M, Kawaguchi M, Shibata N, Kobayashi M : Expression of genes related to muscular dystrophy with lissencephaly. Pediatr Neurol 31 : 183-190, 2004 https://doi.org/10.1016/j.pediatrneurol.2004.03.020
Cited by
- Lower plasma total tau in adolescent psychosis: Involvement of the orbitofrontal cortex vol.144, 2019, https://doi.org/10.1016/j.jpsychires.2021.10.031