Development and Dysgenesis of the Cerebral Cortex: Malformations of Cortical Development

Neuroimaging Clinics of North America

Volumn 21, Issue 3, 2011, Pages 483-543

  Raybaud, Charles ^a   Widjaja, Elysa ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Cobblestone brain; Cortex, development; Focal cortical dysplasia; Lissencephaly; Macrocephaly; Microcephaly; Nodular heterotopia; Polymicrogyria; Schizencephaly

Indexed keywords

ALEXANDER DISEASE; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CELL MIGRATION; CEREBRAL CORTEX DYSGENESIS; COBBLESTONE LISSENCEPHALY; COMPUTER ASSISTED TOMOGRAPHY; CORTICAL DYSPLASIA; DISEASE CLASSIFICATION; DYSTROGLYCANOPATHY; GENE MUTATION; HEMIMEGALENCEPHALY; HUMAN; IMAGE ANALYSIS; IMAGE PROCESSING; IMAGING SYSTEM; MACROCEPHALY; MICROCEPHALY; MICROGYRIA; MUSCLE ATROPHY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PERIVENTRICULAR HETEROTOPIA; PRIORITY JOURNAL; PYRAMIDAL NERVE CELL; REVIEW; SCHIZENCEPHALY; SUBCORTICAL HETEROTOPIA; SUBVENTRICULAR ZONE;

APOPTOSIS; CELL MOVEMENT; CELL PROLIFERATION; CEREBRAL CORTEX; CONGENITAL ABNORMALITIES; HUMANS; NEUROGLIA; NEURONS;

EID: 79960902803     PISSN: 10525149     EISSN: 15579867     Source Type: Journal    
DOI: 10.1016/j.nic.2011.05.014     Document Type: Review

References (230)

1. Taylor D.C., Falconer M.A., Brutton C.J., et al. Focal dysplasia of the cerebral cortex in epilepsy. J Neurol Neurosurg Psychiatr 1971, 34:369-387.
2. Friede R.L. Disturbance in the bulk growth of nervous tissue. Developmental neuropathology 1975, 271-279. Springer. R.L. Friede (Ed.).
3. Friede R.L. Dysplasias of cerebral cortex. Developmental neuropathology 1975, 297-313. Springer. R.L. Friede (Ed.).
4. Rakic P. Guidance of neurons migrating to the fetal monkey neocortex. Brain Res 1971, 33:471-476.
5. Sidman R.L., Rakic P. Neuronal migration, with special reference to developing human brain: a review. Brain Res 1973, 62:1-35.
6. Smith A.S., Ross J.S., Blaser S.I., et al. Magnetic resonance imaging of disturbances in neuronal migration: illustration of an embryologic process. Radiographics 1989, 9:509-522.
7. Guerrini R., Dobyns W.B., Barkovich A.J. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci 2008, 31:154-162.
8. Barkovich A.J., Kuzniecky R.I., Dobyns W.B., et al. A classification scheme for malformations of cortical development. Neuropediatrics 1996, 27:59-63.
9. Raymond A.A., Fish D.R., Sisodiya S.M., et al. Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumor and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patients. Brain 1995, 118:629-660.
10. Barkovich A.J., Kuzniechy R.I., Jackson G.D., et al. Classification system for malformations of cortical development. Update 2001. Neurology 2001, 57:2168-2178.
11. Barkovich A.J., Kuzniecky R.I., Jackson G.D., et al. A developmental and genetic classification for malformations of cortical development. Neurology 2005, 65:1873-1887.
12. Kaido T., Otsuki T., Kaneko Y., et al. Anterior striatum with dysmorphic neurons associated with the epileptogenesis of focal cortical dysplasia. Seizure 2010, 19:256-259.
13. Barkovich A.J., Raybaud C.A. Malformations of cortical development. Neuroimaging Clin N Am 2004, 14:401-423.
14. Raybaud C., Shroff M., Rutka J.T., et al. Imaging surgical epilepsy in children. Childs Nerv Syst 2006, 22:786-809.
15. Deblaere K., Achten E. Structural magnetic resonance imaging in epilepsy. Eur Radiol 2008, 18:119-129.
16. Widjaja E., Raybaud C. Advances in neuroimaging in patients with epilepsy. Neurosurg Focus 2008, 25:E3.
17. Gaillard W.D., Chiron C., Cross J.H., et al. Guidelines for imaging infants and children with recent-onset epilepsy. Epilepsia 2009, 50:2147-2153.
18. Woermann F.G., Vollmar C. Clinical MRI in children and adults with focal epilepsy: a critical review. Epilepsy Behav 2009, 15:40-49.
19. Bernasconi A., Bernasconi N., Bernhardt B.C., et al. Advances in MRI for cryptogenic epilepsies. Nat Rev Neurol 2011, 7:99-108.
20. Saini J., Singh A., Kesavadas C. Role of three-dimensional fluid-attenuated inversion recovery (3D FLAIR) and proton density imaging for the detection and evaluation of lesion extent of focal cortical dysplasia in patients with refractory epilepsy. Acta Radiol 2010, 51:218-225.
21. Sankar R., Curran J.G., Kevill J.W., et al. Microscopic cortical dysplasia in infantile spasms: evolution of the white matter abnormalities. AJNR Am J Neuroradiol 1995, 16:1265-1272.
22. Yagishita A., Arai N., Maehara T., et al. Focal cortical dysplasia: appearance on MR images. Radiology 1997, 203:553-559.
23. Lee B.C., Schmitt R.E., Hatfield G.A., et al. MRI of focal cortical dysplasia. Neuroradiology 1998, 40:675-683.
24. Mackay M.T., Becker L.E., Chuang S.H., et al. Malformations of cortical development with balloon cells. Clinical and radiological correlates. Neurology 2003, 60:580-587.
25. Eltze C.M., Chong W.K., Bhate S., et al. Taylor-type focal cortical dysplasia in infants: some MRI lesions almost disappear with maturation of myelination. Epilepsia 2005, 46:1988-1992.
26. Duprez T., Ghariani S., Grandin C., et al. Focal seizure induce premature myelination: speculation from serial MRI. Neuroradiology 1998, 40:580-582.
27. Demerens C., Stankoff B., Logak M., et al. Induction of myelination in the central nervous system by electrical activity. Proc Natl Acad Sci U S A 1996, 93:9887-9892.
28. Ishibashi T., Dakin K.A., Stevens B., et al. Astrocytes promote myelination in response to electrical impulses. Neuron 2006, 49:823-832.
29. Jacoby C.G., Yuh W.T.C., Afifi A.K., et al. Accelerated myelination in early Sturge-Weber syndrome demonstrated by MR imaging. J Comput Assist Tomogr 1987, 11:226-231.
30. Eriksson S.H., Free S.L., Thom M., et al. Correlation of quantitative MRI and neuropathology in epilepsy surgical resection specimens-T2 correlates with neuronal tissue in gray matter. Neuroimage 2007, 37:48-55.
31. Sisodiya S.M., Free S.L. Disproportion of cerebral surface areas and volumes in cerebral dysgenesis. MRI-based evidence for connectional abnormalities. Brain 1997, 120:271-281.
32. Diehl B., Symms M.R., Boulby P., et al. Postictal diffusion tensor imaging. Epilepsy Res 2005, 65:137-146.
33. Guye M., Ranjeva J.P., Bartolomei F., et al. What is the significance of interictal water diffusion changes in frontal lobe epilepsies?. Neuroimage 2007, 35:28-37.
34. Chen Q., Lui S., Li C.X., et al. MRI-negative refractory partial epilepsy: role for diffusion tensor imaging in high field MRI. Epilepsy Res 2008, 80:83-89.
35. Eriksson S.H., Rugg-Gunn F.J., Symms M.R., et al. Diffusion tensor imaging in patients with epilepsy and malformations of cortical development. Brain 2001, 124:617-626.
36. Wieshmann U.C., Krakow K., Symms G.J.M., et al. Combined functional magnetic resonance imaging and diffusion tensor imaging demonstrates widespread modified organisation in malformation of cortical development. J Neurol Neurosurg Psychiatr 2001, 70:521-523.
37. Briellmann R.S., Mitchell L.A., Waites A.B., et al. Correlation between language organization and diffusion tensor abnormalities in refractory partial epilepsy. Epilepsia 2003, 44:1541-1545.
38. Dumas de la Roque A., Oppenheim C., Chassoux F., et al. Diffusion tensor imaging of partial intractable epilepsy. Eur Radiol 2005, 15:279-285.
39. Widjaja E., Blaser S., Miller E., et al. Evaluation of subcortical white matter and deep white matter tracts in malformations of cortical development. Epilepsia 2007, 48:1460-1469.
40. Li L., Cendes F., Bastos A., et al. Neuronal metabolic dysfunction in patients with cortical developmental malformations: a proton magnetic resonance spectroscopic imaging study. Neurology 1998, 50:755-759.
41. Widjaja E., Griffiths P.D., Wilkinson I.D. Proton MR spectroscopy of polymicrogyria and heterotopia. AJNR Am J Neuroradiol 2003, 24:2077-2081.
42. Simister R.J., McLean M.A., Barker G.J., et al. Proton magnetic resonance spectroscopy of malformations of cortical development causing epilepsy. Epilepsy Res 2007, 74:107-115.
43. Vuori K., Kankaanranta L., Häkkinen A.M., et al. Low-grade gliomas and focal cortical developmental malformations: differentiation with proton MR spectroscopy. Radiology 2004, 230:703-708.
44. Widjaja E., Wilkinson I.D., Griffiths P.D. Magnetic resonance perfusion imaging in malformations of cortical development. Acta Radiol 2007, 46:907-917.
45. Jeong M.G., Chung T.S., Coe C.J., et al. Application of magnetization transfer imaging for intracranial lesions of tuberous sclerosis. J Comput Assist Tomogr 1997, 21:8-14.
46. Girard N., Zimmerman R.A., Schnur R.E., et al. Magnetization transfer in the investigation of patients with tuberous sclerosis. Neuroradiology 1997, 39:523-528.
47. Zikou A., Ioannidou M.C., Tzoufi M., et al. Magnetization transfer ratio measurements of the brain in children with tuberous sclerosis complex. Pediatr Radiol 2005, 35:1071-1074.
48. Rugg-Gunn F.J., Eriksson S.H., Boulby P.A., et al. Magnetization transfer imaging in focal epilepsy. Neurology 2003, 60:1638-1645.
49. Widjaja E., Mahmoodabadi S.Z., Otsubo H., et al. Subcortical alterations in tissue microstructure adjacent to focal cortical dysplasia: detection at diffusion-tensor MR imaging by using magnetoencephalic dipole cluster localization. Radiology 2009, 251:206-215.
50. Janszky J., Ebner A., Kruse B., et al. Functional organization of the brain with malformations of cortical development. Ann Neurol 2003, 53:759-767.
51. Detre J.A. fMRI: applications in epilepsy. Epilepsia 2004, 45(Suppl 4):26-31.
52. Duncan J.S. Imaging in the surgical treatment of epilepsy. Nat Rev Neurol 2010, 6:537-550.
53. Anderson D.P., Harvey A.S., Saling M.M., et al. fMRI localization of expressive language in children with cerebral lesions. Epilepsia 2006, 47:998-1008.
54. Gaillard W.D., Berl M.M., Moore E.N., et al. Atypical language in lesional and nonlesional complex partial epilepsy. Neurology 2007, 69:1761-1771.
55. Govindan R.M., Chugani H.T., Luat A.F., et al. Presurgical prediction of motor functional loss using tractography. Pediatr Neurol 2010, 43:70-72.
56. Nilsson D., Starck G., Ljundberg M., et al. Intersubject variability in the anterior extent of the optic radiation assessed by tractography. Epilepsy Res 2007, 77:11-16.
57. Otsubo H., Snead O.C. Magnetoencephalography and magnetic source imaging in children. J Child Neurol 2001, 16:227-235.
58. O'Brien T.J., So E.L., Mullan B.P., et al. Subtraction SPECT co-registered to MRI improves postictal SPECT localization of seizure foci. Neurology 1999, 52:137-146.
59. Salamon N., Kung J., Shaw S.J., et al. FDG-PET/MRI coregistration improves detection of cortical dysplasia in patients with epilepsy. Neurology 2008, 71:1594-1601.
60. Thornton R., Laufs H., Rodionov R., et al. EEG correlated functional MRI and postoperative outcome in focal epilepsy. J Neurol Neurosurg Psychiatry 2010, 81:922-927.
61. Marin-Padilla M. Prenatal and early postnatal ontogenesis of the human motor cortex: a Golgi study. I. The sequential development of the cortical layers. Brain Res 1970, 33:167-183.
62. Supèr H., Soriano E., Uylings H.B. The functions of the preplate in development and evolution of the neocortex and hippocampus. Brain Res Bull 1998, 27:40-64.
63. Nadarajah B., Parnavelas J.G. Modes of neuronal migration in the developing cerebral cortex. Nat Rev Neurosci 2002, 3:423-432.
64. Kriegstein A.R., Noctor S.C. Pattern of neuronal migration in the embryonic cortex. Trends Neurosci 2004, 27:392-399.
65. Kriegstein A.R. Constructing circuits: neurogenesis and migration in the developing cortex. Epilepsia 2005, 46(Suppl 7):15-21.
66. Rakic P. A century of progress in corticoneurogenesis: from silver impregnation to genetic engineering. Cereb Cortex 2006, 16:i3-i17.
67. Bystron I., Blakemore C., Rakic P. Development of the human cerebral cortex: Boulder Committee revisited. Nat Rev Neurosci 2008, 9:110-122.
68. Clowry G., Molnár Z., Rakic P. Renewed focus on the developing human neocortex. J Anat 2010, 217:276-288.
69. Stiles J., Jernigan T.L. The basics of brain development. Neuropsychol Rev 2010, 20:237-248.
70. Bayer S.S., Altman J. The human brain during the early first trimester 2008, CRC Press/Taylor and Francis Group, Boca Raton (FL); London; New York.
71. Marin-Padilla M. Early prenatal ontogenesis of the cerebral cortex (neocortex) of the Felix domestica. A Golgi study. I. The primordial neocortical organization. Z Anat Entwicklungsgesch 1971, 134:117-142. (quoted by [Super]).
72. Tau G.Z., Peterson B.S. Normal development of brain circuits. Neuropsychopharmacology 2010, 35:147-168.
73. McKinstry R.C., Mathur A., Miller J.H., et al. Radial organization of developing preterm human cerebral cortex revealed by non-invasive water diffusion anisotropy MRI. Cereb Cortex 2002, 12:1237-1243.
74. Smart I.H., McSherry G.M. Gyrus formation in the cerebral cortex of the ferret. II. Description of the internal histological changes. J Anat 1986, 147:27-43.
75. Ferrer I., Hernández-Martí M., Bernet E., et al. Formation and growth of the cerebral convolutions. I. Development of the median-suprasylvian gyrus and adjoining sulci in the cat. J Anat 1988, 160:89-100.
76. Ferrer I., Hernández-Martí M., Bernet E., et al. Formation and growth of the cerebral convolutions. I. Cell death in the suprasylvius gyrus and adjoining sulci in the cat. Dev Brain Res 1989, 45:303-308.
77. Kostović I., Jovanov-Milošević N. The development of cerebral connections during the first 20-45 weeks' gestation. Semin Fetal Neonatal Med 2006, 11:415-422.
78. López-Bendito G., Molnár Z. Thalamocortical development: how are we going to get there?. Nat Rev Neurosci 2003, 4:276-289.
79. Ten Donkelaar H.J., Lammens M., Wesseling P., et al. Development and malformations of the human pyramidal tract. J Neurol 2004, 251:1429-1442.
80. Stanfield B.B. The development of the corticospinal projection. Prog Neurobiol 1992, 38:169-202.
81. Hevner R.E. Development of connections in the human visual system during fetal mid-gestation. A DiI-tracing study. J Neuropathol Exp Neurol 2000, 59:385-392.
82. Raybaud C. Normal and abnormal embryology and development of the intracranial vascular system. Neurosurg Clin N Am 2010, 21:399-426.
83. Klosovskii B.N. Fundamental facts concerning the stages and principles of development of the brain and its response to noxious agents. The development of the brain and its disturbance by harmful factors 1963, 3-43. Pergamon Press, London, [Translated from Russian and edited by B Haigh]. Chapter 1. B.N. Klosovskii (Ed.).
84. Encha-Razavi F., Sonigo P. Features of the developing brain. Childs Nerv Syst 2003, 16:426-428.
85. Volpe J.J. Hypoxic ischemic encephalopathy: biochemical and physiological aspects. Neurology of the newborn 2001, 217-276. Saunders. 4th edition. J.J. Volpe (Ed.).
86. Chiron C., Raynaud C., Maziere B., et al. Changes in regional cerebral blood flow during brain maturation in children and adolescent. J Nucl Med 1992, 33:696-703.
87. Kehrer M., Schöning M. A longitudinal study of cerebral blood flow over the first 30 months. Pediatr Res 2009, 66:560-564.
88. Kehrer M., Blumenstock G., Ehehalt S., et al. Development of cerebral blood flow volume in preterm neonates during the first two weeks of life. Pediatr Res 2005, 58:927-930.
89. Krsek P., Maton B., Korman B., et al. Different features of histopathological subtypes of pediatric focal cortical dysplasia. Ann Neurol 2008, 63:758-769.
90. Colombo N., Tassi L., Galli C., et al. Focal cortical dysplasias: MR imaging, histopathologic, and clinical correlations in surgically treated patients with epilepsy. AJNR Am J Neuroradiol 2003, 24:724-733.
91. Francione S., Vigliano P., Tassi L., et al. Surgery for drug resistant partial epilepsy in children with focal cortical dysplasia: anatomical-clinical correlations and neurophysiological data in 10 patients. J Neurol Neurosurg Psychiatr 2003, 74:1493-1501.
92. Fauser S., Schultze-Bonhage A., Honegger J., et al. Focal cortical dysplasias: surgical outcome in 67 patients in relation to histological subtypes and dual pathology. Brain 2004, 127:2406-2418.
93. Hildebrandt M., Pieper T., Winkler P., et al. Neuropathological spectrum of cortical dysplasia in children with severe focal epilepsies. Acta Neuropathol 2005, 110:1-11.
94. Mischel P.S., Nguyen L.P., Vinters H.V. Cerebral cortical dysplasia associated with pediatric epilepsy. Review of neuropathologic features and proposal for a grading system. J Neuropathol Exp Neurol 1995, 54:137-153.
95. Palmini A., Najm I., Avanzini G., et al. Terminology and classification of the cortical dysplasias. Neurology 2004, 62(Suppl 3):S2-S8.
96. Spreafico R., Blümcke I. Focal cortical dysplasia: clinical implication of neuropathological classification systems. Acta Neuropathol 2010, 120:359-367.
97. Chamberlain W.A., Cohen M.L., Gyure K.A., et al. Interobserver and intraobserver reproducibility in focal cortical dysplasia (malformations of cortical development). Epilepsia 2009, 50:2593-2598.
98. Marin-Padilla M. Developmental neuropathology and impact of perinatal brain damage. I: hemorrhagic lesions of neocortex. J Neuropathol Exp Neurol 1996, 55:758-773.
99. Marin-Padilla M. Developmental neuropathology and impact of perinatal brain damage. II: white matter lesions of the neocortex. J Neuropathol Exp Neurol 1997, 56:219-235.
100. Marin-Padilla M. Developmental neuropathology and impact of perinatal brain damage. III: gray matter lesions of the neocortex. J Neuropathol Exp Neurol 1999, 58:407-429.
101. Lombroso C.T. Can early postnatal closed head injury induce cortical dysplasia?. Epilepsia 2000, 41:245-253.
102. Marin-Padilla M., Parisi J.E., Armstrong D.L., et al. Shaken infant syndrome: developmental neuropathology, progressive cortical dysplasia, and epilepsy. Acta Neuropathol 2002, 103:321-332.
103. Kremer S., de Saint-Martin A., Minotti L., et al. Focal cortical dysplasia possibly related to a probable prenatal ischemic injury. J Neuroradiol 2002, 29:200-203.
104. Govaert P., Lequin M., Korsten A., et al. Postnatal onset cortical dysplasia associated with infarction of white matter. Brain Res 2006, 1121:250-255.
105. Blümcke I., Thom M., Aronica E., et al. The clinicopathologic spectrum of focal cortical dysplasia: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 2011, 52:158-174.
106. Cepeda C., Andre V.M., Flores-Hernandez J., et al. Pediatric cortical dysplasia: correlation between neuroimaging, electrophysiology and location of cytomegalic neurons and balloon-cells and glutamate/GABA synaptic circuits. Dev Neurosci 2005, 27:59-76.
107. Adamsbaum C., Robain O., Cohen P.A., et al. Focal cortical dysplasia and hemimegalencephaly: histological and neuroimaging correlations. Pediatr Radiol 1998, 28:583-590.
108. Andres M., Andre V.M., Nguyen S., et al. Human cortical dysplasia and epilepsy: an ontogenetic hypothesis based on volumetric MRI and NeuN neuronal density and size measurements. Cereb Cortex 2005, 15:194-210.
109. Huppertz H.J., Grimm C., Fauser C., et al. Enhanced visualization of blurred gray-white matter junctions in focal cortical dysplasia by voxel-based 3D MRI analysis. Epilepsy Res 2005, 67:35-50.
110. Bonilha L., Montenegro M.A., Rorden C., et al. Voxel-based morphometry reveals excess gray matter concentration in patients with focal cortical dysplasia. Epilepsia 2006, 47:901-915.
111. Widdess-Walsh P., Diehl B., Najm I. Neuroimaging of focal cortical dysplasia. J Neuroimaging 2006, 16:185-195.
112. Widjaja E., Otsubo H., Raybaud C., et al. Characteristics of MEG and MRI between Taylor's focal cortical dysplasia (type II) and other cortical dysplasia: surgical outcome after complete resection of MEG spike source and MR lesion in pediatric cortical dysplasia. Epilepsy Res 2008, 82:147-155.
113. Focke N.K., Bonelly S.B., Yogarajah M., et al. Automated normalized FLAIR imaging in MRI-negative patients with refractory focal epilepsy. Epilepsia 2009, 50:1484-1490.
114. Madan N., Grant P.E. New directions in clinical imaging of cortical dysplasias. Epilepsia 2009, 50(Suppl 9):9-18.
115. Colombo N., Salamon N., Raybaud C., et al. Imaging of malformations of cortical development. Epileptic Disord 2009, 11:194-205.
116. Krsek P., Pieper T., Karlmeier A., et al. Different presurgical characteristics and seizure outcomes in children with focal cortical dysplasia type I or II. Epilepsia 2009, 50:125-137.
117. Barkovich A.L., Kuzniecky R.I., Bollen A.W., et al. Focal transmantle dysplasia: a specific malformation of cortical development. Neurology 1997, 49:1148-1152.
118. Besson P., Andermann F., Dubeau F., et al. Small focal cortical dysplasia lesions are located at the bottom of a deep sulcus. Brain 2008, 131:3246-3255.
119. Fauser S., Sisodiya S.M., Martinian L., et al. Multi-focal occurrence of cortical dysplasia in epileptic patients. Brain 2009, 132:2079-2090.
120. Diehl B., Tkach J., Piao Z., et al. Diffusion tensor imaging in patients with focal epilepsy due to cortical dysplasia in the temporo-occipital region: electro-clinico-pathological correlation. Epilepsy Res 2010, 90:178-187.
121. Komori T., Arai N., Shimizu H., et al. Cortical perivascular satellitosis in intractable epilepsy; a form of cortical dysplasia?. Acta Neuropathol 2002, 104:149-154.
122. Kasper B.S., Paulus W. Perivascular clustering in temporal lobe epilepsy: oligodendroglial cells of unknown function. Acta Neuropathol 2004, 108:471-475.
123. Hazrati L.N., Kleinschmidt-DeMasters B.K., Handler M.H., et al. Astrocytic inclusions in epilepsy: expanding the concept of filaminopathies. J Neuropathol Exp Neurol 2008, 67:669-676.
124. Van den Veyver I.B., Panichkul P.P., Antalffy B.A., et al. Presence of Filamin in the astrocytic inclusions of Aicardi syndrome. Pediatr Neurol 2004, 30:7-15.
125. Hamilton B.E., Nesbit G.M. MR imaging identification of oligodendroglial hyperplasia. AJNR Am J Neuroradiol 2009, 30:1412-1413.
126. Sasaki M., Hashimoto T., Furushima W., et al. Clinical aspects of hemimegalencephaly by means of a nationwide survey. J Child Neurol 2005, 20:337-341.
127. Flores-Sarnat L. Hemimegalencephaly: part 1. Genetic, clinical and imaging aspects. J Child Neurol 2002, 17:373-384.
128. Di Rocco C., Battaglia D., Pietrini D., et al. Hemimegalencephaly: clinical implications and surgical treatment. Childs Nerv Syst 2006, 22:852-866.
129. Di Rocco F., Novegno F., Tamburrini G., et al. Hemimegalencephaly involving the cerebellum. Pediatr Neurosurg 2001, 35:274-276.
130. Tinkle B.T., Schorry E.K., Franz D.N., et al. Epidemiology of hemimegalencephaly. Am J Med Genet 2005, 139:204-211.
131. Robain O., Gelot A. Neuropathology of hemimegalencephaly. Dysplasia of cerebral cortex and epilepsy 1996, 89-92. Lippincott-Raven, Philadelphia. R. Guerrini, F. Andermann, R. Canapicchi (Eds.).
132. Flores-Sarnat L., Sarnat H.B., Dávilla-Gutiérrez G., et al. Hemimegalencephaly: part 2. Neuropathology suggests a disorder of cellular lineage. J Child Neurol 2003, 18:776-785.
133. Salamon N., Andres M., Chute D.J., et al. Contralateral hemimicrencephaly and clinical-pathological correlations in children with hemimegalencephaly. Brain 2006, 129:352-365.
134. D'Agostino M.D., Bastos A., Piras C., et al. Posterior quadrantic dysplasia or hemi-hemimegalencephaly: a characteristic brain malformation. Neurology 2004, 62:2214-2220.
135. Wolpert S.M., Cohen A., Libenson M.H. Hemimegalencephaly: a longitudinal MR study. AJNR Am J Neuroradiol 1994, 15:1479-1482.
136. Yagishita A., Arai N., Tamagawa K., et al. Hemimegalencephaly: signal changes suggesting abnormal myelination on MRI. Neuroradiology 1998, 40:734-738.
137. Sato N., Ota M., Yagishita A., et al. Aberrant midsagittal fiber tracts in patients with hemimegalencephaly. AJNR Am J Neuroradiol 2008, 29:823-827.
138. Takahashi T., Sato N., Ota M., et al. Asymmetric interhemispheric fiber tracts in patients with hemimegalencephaly on diffusion tensor magnetic resonance imaging. J Neuroradiol 2009, 36:249-254.
139. Sato N., Yagishita A., Oba H., et al. Hemimegalencephaly: a study of abnormalities occurring outside the involved hemisphere. AJNR Am J Neuroradiol 2007, 28:678-682.
140. Abuello D. Microcephaly syndromes. Semin Pediatr Neurol 2007, 14:118-127.
141. Jones K.L. Smith's recognizable patterns of human malformation 2006, Elsevier-Saunders, Philadelphia (PA). 6th edition.
142. Woods C.G., Bond J., Enard W. Autosomal recessive microcephaly (MCPH): a review of clinical, molecular and evolutionary findings. Am J Hum Genet 2005, 76:717-728.
143. Thornton G.K., Woods C.G. Primary microcephaly: do all roads lead to Rome?. Trends Genet 2009, 25:501-510.
144. Adachi Y., Poduri A., Kawaguch A., et al. Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. AJNR Am J Neuroradiol 2011, 32(6):1123-1129.
145. Widjaja E., Nilsson D., Blaser S., et al. White matter abnormalities in children with developmental delay. Acta Radiol 2008, 49:589-595.
146. Olney A.H. Macrocephaly syndromes. Semin Pediatr Neurol 2007, 14:128-135.
147. Schaefer G.B., Bodensteiner J.B., Buehler B.A., et al. The neuroimaging findings in Sotos syndrome. Am J Med Genet 1997, 68:462-465.
148. Thom M., Martinian L., Parnavelas J.G., et al. Distribution of cortical interneurons in gray matter heterotopia in patients with epilepsy. Epilepsia 2004, 45:916-923.
149. Hevner R.F. Layer specific markers as probes for neuron type identity in human neocortex and malformations of cortical development. J Neuropathol Exp Neurol 2007, 66:101-109.
150. Garbelli R., Rossini L., Moroni R.F., et al. Layer-specific genes reveal a rudimentary laminar pattern in human nodular heterotopia. Neurology 2009, 73:746-753.
151. Hatazawa J., Sasajima E., Fujita H., et al. Regional cerebral blood flow response in gray matter heterotopia during finger tapping: an activation study with positron emission tomography. AJNR Am J Neuroradiol 1996, 17:479-482.
152. Pinard J.M., Feydy A., Carlier R., et al. Functional MRI in double cortex: functionality of heterotopias. Neurology 2000, 54:1531-1533.
153. Valton L., Guye M., McGonigal A., et al. Functional interaction in brain networks underlying epileptic seizures in bilateral diffuse periventricular heterotopia. Clin Neurophysiol 2008, 119:212-223.
154. Vitali P., Minati L., D'Incerti L., et al. Functional MRI in malformations of cortical development: activation of dysplastic tissue and functional reorganization. J Neuroimaging 2008, 18:296-305.
155. Meroni A., Galli C., Bramerio M., et al. Nodular heterotopia: a neuropathological study in 24 patients undergoing surgery for drug-resistant epilepsy. Epilepsia 2009, 50:116-124.
156. Jaglin X.H., Chelly J. Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects. Trends Genet 2009, 25:555-566.
157. Dobyns W.B., Reiner O., Carozzo R., et al. Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993, 270:2838-2842.
158. des Portes V., Pinard J.M., Billuart P., et al. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998, 92:51-61.
159. Gleeson J.G., Allen K.M., Fox J.W., et al. doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998, 92:63-72.
160. Dobyns J.W. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia 2010, 51(Suppl 1):5-9.
161. Fitzgerald M.P., Covio M., Lee K.S. Disturbances in the positioning, proliferation and apoptosis of neural progenitors contribute to subcortical band heterotopia formation. Neuroscience 2011, 176:455-471.
162. Forman M.S., Squier W., Dobyns W.B., et al. Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol 2005, 64:847-857.
163. Kappeler C., Dhenain M., Phan Dinh Tuy F., et al. Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency. J Comp Neurol 2007, 500:239-254.
164. Saillour Y., Carion N., Quelin C., et al. LIS1-related isolated lissencephaly. Arch Neurol 2009, 66:1007-1015.
165. Koizumi H., Tanaka T., Gleeson J.G. doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration. Neuron 2006, 49:55-66.
166. Ross M.E., Swanson K., Dobys W.B. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 2001, 32:256-263.
167. Jissendi-Tchofo P., Kara S., Barkovich A.J. Midbrain-hindbrain involvement in lissencephalies. Neurology 2009, 72:410-418.
168. Dobyns W.B., Truwit C.L., Ross M.E., et al. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999, 53:270-277.
169. D' Agostino M.D., Bernasconi A., Das S., et al. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain 2002, 125:2507-2522.
170. Mai R., Tassi L., Cossu M., et al. A neuropathological, stereo-EEG, and MRI study of subcortical band heterotopia. Neurology 2003, 60:1834-1838.
171. Viot G., Sonigo P., Simon I., et al. Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. Am J Med Genet 2004, 126:123-128.
172. Cardoso C., Leventer R.J., Dowling J.J., et al. Clinical and molecular basis of classical lissencephaly: mutations in the LIS1 gene (PAFAH1B1). Hum Mutat 2002, 19:4-15.
173. Poirier K., Keays D.A., Francis F., et al. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in Tubulin Alpha 1A (TUBA1A). Hum Mutat 2007, 28:1055-1064.
174. Fallet-Bianco C., Loeuillet L., Poirier K., et al. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. Brain 2008, 131:2304-2320.
175. Kumar R.A., Pilz D.T., Babatz T.D., et al. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet 2010, 19:2817-2827.
176. Dobyns W.B., Berry-Kravis E., Havernik N.J., et al. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet 1999, 86:331-337.
177. Kato M., Dobyns W.B. X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term "interneuronopathy" J Child Neurol 2005, 20:392-397.
178. Kitamura K., Yanazawa M., Sugiyama N., et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002, 32:359-369.
179. Colombo E., Collombat P., Colasante G., et al. Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation. J Neurosci 2007, 27:4786-4798.
180. Miyata R., Hayashi M., Miyai K., et al. Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). Brain Dev 2009, 31:456-460.
181. Zhang G., Assadi A.H., McNeil R.S., et al. The Pafah1b complex interacts with the reelin receptor VLDLR. PLoS One 2007, 2:e252.
182. Conti Reed U. Congenital muscular dystrophy. Part I. A review of phenotypical and diagnostic aspects. Arq Neuropsiquiatr 2009, 67:144-168.
183. Conti Reed U. Congenital muscular dystrophy. Part II. A review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr 2009, 67:343-362.
184. Clement E., Mercuri E., Godfrey C., et al. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 2008, 64:573-582.
185. Bahi-Buisson N., Poirier K., Boddaert N., et al. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain 2010, 133:3194-3209.
186. Li S., Jin Z., Koraila S., et al. GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci 2008, 28:5817-5826.
187. Raymond A.A., Fish D.R., Stevens J.M., et al. Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy. J Neurol Neurosurg Psychiatry 1994, 57:1195-1202.
188. Dubeau F., Tampieri D., Lee N., et al. Periventricular and subcortical nodular heterotopia. A study of 33 patients. Brain 1995, 118:1273-1287.
189. Oda T., Nagai Y., Fujimoto S., et al. Hereditary nodular heterotopia accompanied by mega cisterna magna. Am J Med Genet 1993, 47:268-271.
190. Walker L.M., Katzir T., Liu T., et al. Gray matter volumes and cognitive ability in the epileptogenic brain malformation of periventricular nodular heterotopia. Epilepsy Behav 2009, 15:456-460.
191. Ekşioĝlu Y.Z., Scheffer I.E., Cardenas P., et al. Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 1996, 16:77-87.
192. Fox J.W., Lamperti E.D., EkşioĝluYZ, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998, 21:1315-1325.
193. Parrini E., Ramazzotti A., Dobyns W.B., et al. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutation. Brain 2006, 129:1892-1906.
194. Barkovich A.J. Morphologic characteristics of subcortical heterotopias: MR imaging study. AJNR Am J Neuroradiol 2000, 21:290-295.
195. Raybaud C. The corpus callosum, the other great brain commissures and the septum pellucidum: anatomy, development and malformation. Neuroradiology 2010, 52:447-477.
196. Poduri A., Golja A., Riviello J.J., et al. A distinct asymmetrical pattern of cortical malformation: large unilateral malformation of cortical development with contralateral periventricular nodular heterotopia in three pediatric cases. Epilepsia 2005, 46:1317-1321.
197. Novegno F., Battaglia D., Chieffo D., et al. Giant subcortical heterotopia involving the temporo-parieto-occipital region: a challenging cause of drug-resistant epilepsy. Epilepsy Res 2009, 87:88-94.
198. Levine D.N., Fisher M.A., Caviness V.S. Porencephaly with microgyria: a pathologic study. Acta Neuropathol (Berl) 1974, 29:99-113.
199. Yakovlev P.I., Wadworth R.C. Schizencephalies. A study of congenital clefts in the cerebral mantle. I. Clefts with fused lips. J Neuropathol Exp Neurol 1946, 5:116-130.
200. Yakovlev P.I., Wadworth R.C. Schizencephalies. A study of congenital clefts in the cerebral mantle. II. Clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol 1946, 5:169-206.
201. Dekaban A. large defects in cerebral hemispheres associated with cortical dysgenesis. J Neuropathol Exp Neurol 1965, 24:512-530.
202. Raybaud C. Destructive lesions of the brain. Neuroradiology 1983, 25:265-291.
203. Takano T., Takikita S., Shimada M. Experimental schizencephaly induced by Kilham strain of mumps virus. Pathogenesis of cleft formation. Neuroreport 1999, 10:3149-3154.
204. Robinson R.O. Familial schizencephaly. Dev Med Child Neurol 1991, 33:1010-1014.
205. Hilburger A., Willis J.K., Bouldin E., et al. Familial schizencephaly. Brain Dev 1993, 15:234-236.
206. Brunelli S., Faiella A., Capra V., et al. Germline mutation in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 1996, 12:94-96.
207. Hayashi N., Tsutsumi Y., Barkovich A.J. Morphological features and associated anomalies of schizencephaly in the clinical population: detailed analysis of MR images. Neuroradiology 2002, 44:418-427.
208. Raybaud C., Girard N., Levrier O., et al. Schizencephaly: correlation between the lobar topography of the cleft(s) and absence of the septum pellucidum. Childs Nerv Syst 2001, 17:217-222.
209. Barkovich A.J., Fram E.K., Norman D. Septo-optic dysplasia: MR imaging. Radiology 1989, 171:189-192.
210. Squier W., Jansen A. Abnormal development of the human cerebral cortex. J Anat 2010, 217:312-323.
211. Eriksson S.H., Thom M., Hefferman J., et al. Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria. Brain 2001, 124:1350-1361.
212. Jansen A., Anderman E. Genetics of the polymictogyria syndromes. J Med Genet 2005, 42:369-378.
213. Barkovich A.J. Current concepts of polymicrogyria. Neuroradiology 2010, 52:479-487.
214. Barkovich A.J. MRI analysis of sulcation morphology in polymicrogyria. Epilepsia 2010, 51(Suppl 1):17-22.
215. Raybaud C., Girard N., Canto-Moreira N., et al. High-definition magnetic resonance imaging identification of cortical dysplasias: micropolygyria versus lissencephaly. Dysplasias of cerebral cortex and epilepsy 1996, 131-143. Lippincott-Raven, Philadelphia. R. Guerrini, F. Andermann, R. Canapicchi (Eds.).
216. van der Knaap M.S., Vermeulen G., Barkhof F., et al. Pattern of white matter abnormalities at MR imaging: use of polymerase chain reaction testing of Guthrie cards to link pattern with congenital cytomegalovirus infection. Radiology 2004, 230:529-536.
217. Crome R.L., France N.E. Microgyria and cytomegalic inclusion disease in infancy. J Clin Pathol 1959, 12:427-434.
218. Friede R.L., Mikolasek J. Postencephalitic porencephaly, hydranencephaly or polymicrogyria. A review. Acta Neuropathol (Berl) 1978, 43:161-168.
219. Maton B., Kršek P., Jayakar P., et al. Medically intractable epilepsy in Sturge-Weber syndrome is associated with cortical malformation: implication for surgical therapy. Epilepsia 2010, 51:257-267.
220. Guye M., Gastaut J.L., Bartolomei F. Epilepsy and perisylvian lipoma/cortical dysplasia complex. Epileptic Disord 1999, 1:69-73.
221. Chang B.S., Apse K.A., Caraballo, et al. A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. Neurology 2006, 66:133-135.
222. Jaglin X.H., Poirier K., Saillour Y., et al. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet 2009, 41:746-752.
223. Borgatti R., Triulzi F., Zucca C., et al. Bilateral perisylvian polymicrogyria in three generations. Neurology 1999, 52:1910-1913.
224. Guerrini R., Barkovich A.J., Sztriha L., et al. Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology 2000, 54:909-913.
225. Guerrini R., Dubeau F., Dulac O., et al. Bilateral parasagittal parietooccipital polymicrogyria and epilepsy. Ann Neurol 1997, 41:65-73.
226. Mirzaa G., Dodge N.N., Glass I., et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics 2004, 35:353-359.
227. Pierson T.M., Zimmerman R.A., Tennekoon G.I., et al. Mega-corpus callosum, polymicrogyria, and psychomotor retardation: confirmation of a syndromic entity. Neuropediatrics 2008, 39:123-127.
228. Siejka S., Strefling A.M., Urich H. Absence of septum pellucidum and polymicrogyria: a forme frusta of the porencephalic syndrome. Clin Neuropathol 1989, 8:174-178.
229. Wieck G., Leventer R.J., Squier W.M., et al. Periventricular nodular heterotopia with overlying polymicrogyria. Brain 2005, 128:2811-2821.
230. Vincentiis S., Valente K.D., Valente M. Polymicrogyria in glycogenosis type III: an incidental finding?. Pediatr Neurol 2004, 31:143-145.