Epileptic Disorders


Epilepsy and malformations of the cerebral cortex Volume 5, issue 2, June 2003

1. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. Classification system for malformations of cortical development. Update 2001. Neurology 2001; 57: 2168-78.

2. Guerrini R, Holthausen H, Parmeggiani L, Chiron C. Epilepsy and malformations of the cerebral cortex. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic Syndromes in Infancy, Childhood and Adolescence (3rd edn). London, John Libbey, 2002; 457-79.

3. Kuzniecky RI. Magnetic resonance imaging in developmental disorders of the cerebral cortex. Epilepsia 1994; 35 (Suppl 6): S44-56

4. Tuxhorn I, Holthausen H, Boenigk H, eds. Paediatric Epilepsy Syndromes and their Surgical Treatment. London: John Libbey, 1997; 749-73.

5. Walsh C A. Genetic malformations of the human cerebral cortex. Neuron 1999; 23: 19-29.

6. Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia New York: Lippincott- Raven, 1996.

7. Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P. A classification scheme for malformations of cortical development. Neuropediatrics 1996; 27: 59-63.

8. Robain O, Gelot A. Neuropathology of Hemimegalencephaly. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia New York: Lippincott- Raven, 1996; 89-92.

9. Robain O,Floquet J,Heldt N,Rozemberg F. Hemimegalencephaly: a clinicopathological study of four cases. Neuropathol Appl Neurobiol 1988; 14: 125-35.

10. Jahan R, Mischel PS, Curran JG, Peacock WJ, Shields DW, Vinters HV. Bilateral neuropathologic changes in a child with hemimegalencephaly. Pediatr Neurol 1997; 17: 344-9

11. Sarnat HB. Cerebral dysgenesis: embryology and clinical expression. New York, Oxford: Oxford University Press, 1992.

12. Guerrini R, Dravet C, Bureau M, et al. Diffuse and localized dysplasias of cerebral cortex: clinical presentation, outcome, and proposal for a morphologic MRI classification based on a study of 90 patients. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia New York: Lippincott- Raven, 1996; 255-69.

13. Fusco L, Ferracuti S, Fariello G, Manfredi M, Vigevano F. Hemimegalencephaly and normal intellectual development. J Neurol Neurosurg Psychiatry 1992; 55: 720-2.

14. Vigevano F, Fusco L, Granata T, et al. Hemimegalencephaly: clinical and EEG characteristics. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia-New York: Lippincott- Raven, 1996; 285-94.

15. Paladin F, Chiron C, Dulac O, Plouin P, Ponsot G. Electroencephalographic aspects of hemimegalencephaly. Dev Med Child Neurol 1989; 31: 377-83

16. Bignami A, Palladini G, Zappella M. Unilateral megalencephaly with cell hypertrophy. An anatomical and quantitative histochemical study. Brain Res 1968; 9: 103-14.

17. Tjiam AT, Stefanko S, Shenk VWD, de Vlieger M. Infantile spasms associated with hemipsarhythmia and hemimegalencephaly. Dev Med Child Neurol 1978; 20: 779-89.

18. King M, Stephenson JB, Ziervogel M, Doyle D, Galbraith S. Hemimegalencephaly. A case for hemispherectomy? Neuropediatrics 1985; 16: 46-55.

19. Trounce JQ, Rutter N, Mellor DH. Hemimegalencephaly: diagnosis and treatment. Dev Med Child Neurol 1991; 33: 257-66.

20. Vigevano F, Bertini E, Boldrini R, et al. Hemimegalencephaly and intractable epilepsy: benefits of hemispherectomy. Epilepsia 1989; 30: 833-43.

21. Di Rocco C. Surgical treatment of hemimegalencephaly. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin B, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia-New York: Lippincott-Raven, 1996: 295-304.

22. Janota I, Polkey CE. Cortical dysplasia in epilepsy. A study of material from surgical resections for intractable epilepsy. In: Pedley TA, Meldrum BS, eds. Recent advances in epilepsy. New York: Churchill Livingstone, 1992; 37-49.

23. Taylor DC, Falconer MA, Bruton CJ, Corsellis JAN. Focal dysplasia of the cerebral cortex in epilepsy. J Neurol Neurosurg Psychiatry 1971; 34: 369-87.

24. Jay V, Becker LE, Otsubo H, Hwang PA, Hoffman HJ, Harwood- Nash D. Pathology of temporal lobectomy for refractory seizures in children. Review of 20 cases including some unique malformative lesions. J Neurosurg 1993; 79: 53- 61.

25. Mischel PS, Nguyen LP, Vinters HV. Cerebral cortical dysplasia associated with pediatric epilepsy. Review of neuropathologic features and proposal for a grading system. J Neuropathol Exp Neurol 1995; 54: 137-53.

26. Tassi L, Colombo N, Garbelli R, Francione S, Lo Russo G, Mai R, Cardinale F, Cossu M, Ferrario A, Galli C, Bramerio M, Citterio A, Spreafico R. Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome. Brain 2002; 125: 1719-32

27. Kuzniecky RI. MRI in focal cortical dysplasia. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia-New York: Lippincott- Raven, 1996; 145-50.

28. Becker AJ, Urbach H, Scheffer B et al. Focal cortical dysplasia of Taylor’s ballon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. Ann Neurol 2002; 52: 29-37.

29. Desbiens R, Berkovic SF, Dubeau F, et al. Life-threatening focal status epilepticus due to occult cortical dysplasia. Arch Neurol 1993; 50: 695-700.

30. Fogarasi A, Janszky J, Faveret E, Pieper T, Tuxhorn I. A detailed analysis of frontal lobe seizure semiology in children younger than 7 years. Epilepsia 2001; 42: 80-5.

31. Palmini A, Gambardella A, Andermann F, et al. Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results. Ann Neurol 1995; 37: 476-87.

32. Guerrini R, Dravet C, Raybaud C, Roger J, Bureau M, Battaglia A, Livet MO, Gambarelli D, Robain O. Epilepsy and focal gyral anomalies detected by magnetic resonance imaging: electroclinico-morphological correlations and follow-up. Dev Med Child Neurol 1992; 34: 706-18.

33. Chugani HT, Shields WD, Shewmon DA, Olson DM, Phelps ME, Peacock WJ. Infantile spasms: I. PET identifies focal cortical dysgenesis in cryptogenic cases for surgical treatment. Ann Neurol 1990; 27: 406-13.

34. Kuzniecky R, Berkovic S, Andermann F, Melanson D, Olivier A, Robitaille Y. Focal cortical myoclonus and rolandic cortical dysplasia: clarification by magnetic resonance imaging. Ann Neurol 1988; 23: 317-25.

35. Ferrer I, Pineda M, Tallada M, et al. Abnormal local circuit neurons in epilepsia partialis continua associated with focal cortical dysplasia. Acta Neuropathol 1992; 83: 647-52.

36. Kuzniecky R, Powers R. Epilepsia partialis continua due to cortical dysplasia. J Child Neurol 1993; 8: 386-8.

37. Aicardi J. The place of neuronal migration abnormalities in child neurology. Can J Neurol Sci 1994; 21: 185-93.f

38.  Gambardella A, Palmini A, Andermann F, et al. Usefulness of focal rhythmic discharges on scalp EEG of patients with focal cortical dysplasia and intractable epilepsy. Electroencephalogr Clin Neurophysiol 1996; 98: 243-9.

39. Palmini A, Gambardella A, Andermann F, et al. The human dysplastic cortex is intrinsically epileptogenic. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin B, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia: Lippincott-Raven, 1996: 43-52.

40. Avoli M, Mattia D, Siniscalchi A, Perreault P, Tomaiuolo F. Pharmacology and electrophysiology of a synchronous GABA-mediated potential in the human neocortex. Neuroscience 1994; 62: 655-66.

41. Mattia D, Oliver A, Avoli M. Seizures-like discharges recorded in the human dysplastic neocortex maintained in vitro. Neurology 1995; 45: 1391-5.

42. Avoli M, Hwa GGC, Lacaille JC, Olivier A, Villemeure JG. Electrophysiological and repetitive firing properties of neurons in the superficial/middle layers of the human neocortex. Exp Brain Res 1994; 98: 135-44.

43. Spreafico R, Battaglia G, Arcelli P, Andermann F, Dubeau F, Palmini A, Olivier A, Villemure JG, Tampieri D, Avanzini G, Avoli M. Cortical dysplasia: an immunocytochemical study of three patients. Neurology 1998; 50: 27-36.

44. Dravet C, Guerrini R, Mancini J, Saltarelli A, Livet MO, Galland MC. Different outcomes of epilepsy due to cortical dysplastic lesions. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin B, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia-New York: Lippincott-Raven, 1996; 323-8.

45. Gomez MR. Tuberous Sclerosis. New York: Raven Press 1979.

46. Barkovich AJ. Pediatric neuroimaging. New York: Raven Press 1995.

47. Povey S, Burley M W, Attwood J, Benham F, Hunt D, Jeremiah S J, Franklin D, Gillett G, Malas S, Robson E B, Tippett P, Edwards J H, Kwiatkowski D J, Super M, Mueller R, Fryer A, Clarke A, Webb D, Osborne J. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann. Hum. Genet 1994; 58: 107-27.

48. Van Bakel I, Sepp T, Ward S, Yates JRW, Green A J. Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test [PTT]. Hum Molec Genet 1997; 6: 1409-14.

49. Van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 277: 805-8.

50. Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP. Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999; 64: 1305-15.

51. European Chromosome 16 Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305-15.

52. Dabora SL, Jozwiak S, Franz DN, Roberts P S, Nieto A, Chung J, Choy YS, Reeve M P, Thiele E, Egelhoff J C, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001; 68: 64-80.

53. Dulac O, Lemaitre A, Plouin P. Maladie de Bourneville: aspects cliniques et électroencéphalographiques de l’épilepsie dans la première année. Boll Lega It Epil 1984; 45/46: 39-42.

54. Roger J, Dravet Ch, Boniver C, et al. L’épilepsie dans la Sclérose Tubéreuse de Bourneville. Boll Lega It Epil 1984; 45/46: 33-8.

55. Curatolo P, Cusmai R. MRI in Bourneville disease: relationship with EEG findings. Neurophysiol Clin 1988; 18: 149-57.

56. Bebin EM, Kelly PJ, Gomez M. Surgical treatment in cerebral tuberous sclerosis. Epilepsia 1993; 34: 651-7.

57. Sivelle G, Kahane P, de Saint-Martin A, Hirsch E, Hoffmann D, Munari C. La multilocalité des lésions dans la sclérose tubéreuse de Bourneville contre-indique-t-elle une approche chirurgicale? Epilepsies 1995; 7: 451-64.

58. Prayson RA, Estes ML, Morris HH. Coexistence of neoplasia and cortical dysplasia in patients presenting with seizures. Epilepsia 1993; 34: 609-15.

59. Daumas-Duport C. Dysembryoplastic neuroepithelial tumors in epilepsy surgery. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin B, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia-New York: Lippincott-Raven, 1996; 71-80.

60. Pasquier B, Bost F, Peoc’h M, Barnoud R, Pasquier D. Neuropathologic data in drug-resistant partial epilepsy. Report of a series of 195 cases. Ann Pathol 1996; 16: 174-81.

61. Morris HH, Estes ML, Prayson RA, et al. Frequency of different tumor types encountered in the Cleveland Clinic epilepsy surgery program. Epilepsia 1996; 37[suppl.5]: S96.

62. Zentner J, Hufnagel A, Wolf HK, Ostertun B, Behrens E, Campos MG, Elger CE, Wiestler OD, Schramm J. Surgical treatment of neoplasms associated with medically intractable epilepsy. Neurosurgery 1997; 41: 378-86.

63. Prayson RA. Pathology of neoplastic lesions causing epilepsy. In: Luders HO and Comair YG. Epilepsy surgery. Second edition. Philadelphia, Lippincott Williams and Wilkins 2001: 915-26

64. Harding B. Gray matter heterotopia. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia-New York: Lippincott- Raven, 1996; 81-8.

65. Hardiman O, Burke T, Phillips J, et al. Microdysgenesis in resected temporal neocortex: incidence and clinical significance in focal epilepsy. Neurology 1988; 38: 1041-7.

66. Raymond AA, Fish DR, Sisodya SM, Alsanjari N, Stevens JM, Shorvon SD. Abnormalities of gyration, heterotopias, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patients. Brain 1995; 118: 629-60.

67. Falconer J, Wada J, Martin W, Li D. PET, CT, and MRI imaging of neuronal migration anomalies in epileptic patients. Can J Neurol Sci 1990; 17: 35-9.

68. Barkovich AJ, Guerrini R, Battaglia G, Kalifa G, N’Guyen T, Parmeggiani A, Santucci M, Giovanardi-Rossi P, Granata T, D’Incerti L. Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol 1994; 36: 609-17.

69. Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, Walsh CA, Truwit CL. X-linked malformations of neuronal migration. Neurology 1996; 47: 331-9.

70. Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998; 21: 1315-25.

71. Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet 2001; 10: 1775-83.

72. Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R. Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. Neurology 2002; 58: 916-21

73. Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont ME, Breningstall G, Yock DH, Bonanni P, Truwit CL. Bilateral periventricular nodular heterotopia (BPNH} with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology 1997; 49: 1042-7.

74. Guerrini R, Dobyns WB. Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. Neurology 1998; 51: 499-503.

75. Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Clin Dysmorphol 1999; 81: 1-4.

76. Dubeau F, Tampieri D, Lee N, Andermann E, Carpenter S, Leblanc R, Olivier A, Radtke R, Villemure JG, Andermann F. Periventricular and subcortical nodular heterotopia. A study of 33 patients. Brain 1995; 118: 1273-87.

77. Friede RL. Developmental neuropathology, 2nd edition. New York: Springer-Verlag 1989.

78. Barkovich AJ. Magnetic resonance imaging of lissencephaly, polymicrogyria, schizencephaly, hemimegalencephaly, and band heterotopia. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin B, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia-New York: Lippincott-Raven, 1996; 115-29.

79. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993; 364: 717-21.

80. Des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrie A, Gelot A, Dupuis E, Motte J, Berwald-Netter Y, Catala M, Kahn A, Beldjord C, Chelly J. Identification of a novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998; 92: 51-61.

81. Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. 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.

82. Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol 2000; 47: 265-9.

83. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993; l270: 2838-42.

84. Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, FlandersDJ, Guerrini R, Motte J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. Linkage and physical mapping X-linked lissencephaly/SBH [XLIS]: a novel gene causing neuronal migration defects in human brain. Hum Molec Genet 1997; 6, 555-62.

85. Des Portes V, Francis F, Pinard JM, Desguerre I, Moutard ML, Snoeck I, Meiners LC, Capron F, Cusmai R, Ricci S, Motte J, Echenne B, Ponsot G, Dulac O, Chelly J, Beldjord C. Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet 1998; 7: 1063-70.

86. Sossey-Alaoui K, Hartung AJ, Guerrini R, Manchester DK, Posar A, Puche-Mira A, Andermann, Dobyns B, Srivastava AK.1998. Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet 1998; 7: 1327-32.

87. Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB. Mutation analysis of the DCX gene and genotype/ phenotype correlation in subcortical band heterotopia. Eur J Hum Genet 2001; 9: 5-12.

88. Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Ricci S, Cusmai R, Crawford TO, Leroy R, Andermann E, Wheless JW, Dobyns WB, Walsh CA, et al. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol 1999; 45: 146-53

89. Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet. 2000; 67: 574-81.

90. Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX [XLIS] or LIS1. Hum Mol Genet 1999; 8: 1757-60.

91. Gleeson JG. Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin. Curr Opin Neurol 2000; 13: 121-5.

92. Pilz DT, Macha ME, Precht KS, Smith AC, Dobyns WB, Ledbetter DH. Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. Genet Med 1998; 1: 29-33.

93. Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet 2000; 9: 3019-28.

94. Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 1995; 26: 132-47.

95. De Rijk-van Andel, JF, Arts, WFM, Hofman A, Staal A, Niermeijer MF. Epidemiology of lissencephaly type I. Neuroepidemiology 1991; 10: 200-4.

96. Dulac O, Plouin P, Perulli L, Diebler C, Arthuis M, Jalin C. Aspects électroencéphalographiques de l’agyrie-pachygyrie classique. Rev EEG Neurophysiol Clin 1983; 13: 232-9

97. Guerrini R, Robain O, Dravet Ch, Canapicchi R, Roger J. Clinical, electrographic and pathological findings in the gyral disorders. In: Fejerman N, Chamoles NA, eds. New Trends in Pediatric Neurology. Amsterdam: Elsevier, 1993: 101-7.

98. Fogli A, Guerrini R, Moro F, Fernandez-Alvarez E, Livet MO, Renieri A, Cioni M, Pilz DT, Veggiotti P, Rossi E, Ballabio A, Carrozzo R. Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. Ann Neurol 1999; 45: 154-6.

99. Hakamada S, Watanabe K, Hara K, Miyazaki S. The evolution of electroencephalographic features in lissencephaly syndrome. Brain Dev 1979; 4: 277-83.

100. Quirk JA, Kendall B, Kingsley DPE, Boyd SG, Pitt MC. EEG features of cortical dysplasia in children. Neuropediatrics 1993; 24: 193-9.

101. Morrell F, Whisler WW, Hoeppner TJ, Smith MC, Kanner AM, Pierre-Louis J-C, Chez MG, Hasegawa H. Electrophysiology of heterotopic gray matter in the “double cortex” syndrome. Epilepsia 1992; 33[suppl 3], 76.

102. Palmini A, Andermann F, Aicardi J Dulac O, Chaves F, Ponsot G, Pinard JM, Goutieres F, Livingstone J, Tampieri D. Diffuse cortical dysplasia, or the double cortex syndrome: the clinical and epileptic spectrum in 10 patients. Neurology 1991; 41: 1656-62.

103. Landy HJ, Curless RG, Ramsay RE, Slater J, Ajmone-Marsan C, Quencer RM. Corpus callosotomy for seizures associated with band heterotopia. Epilepsia 1993; 34: 79-83.

104. Hong SE, Shugart YY, Huang DT, Al Shahwan S, Grant PE, Hourihane JO, Martin NDT, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nature Genet 2000; 26: 93-6.

105. Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 1965; 19: 609-10.

106. Aicardi J, Chevrie JJ, Rousselie F. Le syndrome agénésie calleuse, spasmes en flexion, lacunes choriorétiniennes. Arch Franc Pédiatr 1969; 26: 1103-20.

107. Aicardi J. Aicardi syndrome. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia-New York: Lippincott- Raven, 1996; 211-6.

108. Molina JA, Mateos F, Merino M, Epifanio JL, Gorrono M. Aicardi syndrome in two sisters. J Pediatr 1989; 115: 282-3.

109. MacGregor DL, Menezes A, Buncic JR. Aicardi syndrome (AS): - natural history and predictors of severity. Can J Neurol Sci 1993; 20(suppl.2): S36.

110. Billette de Villemeur T, Chiron C, Robain O. Unlayered polymicrogyria and agenesis of the corpus callosum: a relevant association? Acta Neuropathol 1992; 83: 265-70.

111. Ferrer I, Cusi MV, Liarte A, Campistol J. A Golgi study of the polymicrogyric cortex in Aicardi syndrome. Brain Dev 1986; 8: 518-25.

112. Chevrie JJ, Aicardi J. The Aicardi syndrome. In: Pedley TA, Meldrum BS eds. Recent advances in epilpesy. Vol 3. Edinburgh: Churchill Livingston, 1986: 189-210.

113. Barkovich AJ, Kjos BO. Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits. AJNR 1992; 3: 95-103.

114. Barkovich AJ, Norman D. MR of schizencephaly. AJNR 1988; 9: 297-302.

115. Hosley MA, Abroms IF, Ragland RL. Schizencephaly: case report of familial incidence. Pediatr Neurol 1992; 8: 148-50.

116. Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 1996; 12: 94-6.

117. Granata T, Farina L, Faiella A, Cardini R, D’Incerti L, Boncinelli E, Battaglia G. Familial schizencephaly associated with EMX2 mutation. Neurology 1997; 48: 1403-6.

118. Faiella A, Brunelli S, Granata T, D’Incerti L, Cardini R, Lenti C, Battaglia G, Boncinelli E. A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2. Eur J Hum Genet 1997; 5: 186-90.

119. Granata T, Battaglia G, D’Incerti L, Franceschetti S, Spreafico R, Savoiardo M, Avanzini G. 1996. Schizencephaly: clinical findings. In: Guerrini R, eds. Dysplasias of Cerebral Cortex and Epilepsy, Andermann, F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. pp. 407-15 Philadelphia-New York: Lippincott-Raven.

120. Barkovich AJ, Hevner R, Guerrini R. 1999. Syndromes of bilateral symmetrical polymicrogyria. AJNR 1999; 20: 1814-21.

121. Ferrer I. A Golgi analysis of unlayered polymicrogyria. Acta Neuropathol. 1984; 65: 69-76.

122. Evrard P, De Saint-Georges P, Kadhim H, Gadisseux JF. Pathology of prenatal encephalopathies. In: Child neurology and developmental disabilities, ed. French J. pp. 153-76. Baltimore: Brookes, Falconer J, Wada J, Martin W, Li D. 1990. PET, CT, and MRI imaging of neuronal migration anomalies in epileptic patients. Can J Neurol Sci 1989; 17: 35-9.

123. Harding B, Copp A. Malformations of the nervous system. In: Graham, JG, Lantos PL, eds. Greenfieldís neuropathology. London-Melbourne-Auckland: Edward Arnold, 1997: 521-638.

124. Galaburda AM, Sherman GF, Rosen GD, Aboitiz F, Geschwind N. Developmental dyslexia: four consecutive patients with cortical anomalies. Ann eurol 1985; 18: 222-33.

125. Kuzniecky R, Andermann F, Guerrini R and CBPS Multicenter Collaborative Study. Congenital bilateral perisylvian syndrome: study of 31 patients. Lancet 1993; 341: 608-12.

126. Guerrini R, Dubeau F, Dulac O, Barkovich AJ, Kuzniecky R, Fett C, Jones-Gotman M, Canapicchi R, Cross H, Fish D, Bonanni P, Jambaqué I, Andermann F. Bilateral parasagittal parietooccipital polymicrogyria and epilepsy. Ann Neurol 1997; 41: 65-73.

127.  Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB. Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology 2000; 54: 909-13

128. Bartolomei F, Gavaret M, Dravet C, Guerrini R. Familial epilepsy with unilateral and bilateral malformations of cortical development. Epilepsia 1999; 40: 47-51.

129. Guerreiro MM, Andermann E, Guerrini R, Dobyns WB, Kuzniecky R, Silver K, Van Bogaert P, Gillain C, David P, Ambrosetto G, Rosati A, Bartolomei F, Parmeggiani A, Paetau R, Salonen O, Ignatius J, Borgatti R, Zucca C, Bastos AC, Palmini A, Fernandes W, Montenegro MA, Cendes F, Andermann F. Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol 2000; 48: 39-48.

130. Ruton MC, Expert-Bezançon MC, Bursztyn J, Mselati JC, Robain O. Polymicrogyrie bioperculaire associée a une ophtalmoplégie congénitale par atteinte du noyau du nerf moteur oculaire commun. Rev Neurol 1994; 150: 363-9.

131. Becker PS, Dixon AM, Troncoso JC. Bilateral opercular polymicrogyria. Ann Neurol 1989; 25: 90-2.

132. Borgatti R, Triulzi F, Zucca C, Piccinelli S, Ballottin U, Carrozzo R, Guerrini R. Bilateral perisylvian polymicrogyria in three generations. Neurology 1999; 52: 1910-1913.

133. Yoshimura K, Hamada F, Tomoda T, Wakiguchi H, Kurashige T. Focal pachypolymicrogyria in three siblings. Pediatr Neurol 1998; 18: 435-8.

134. Villard L, Nguyen K, Cardoso C, et al. A Locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet 2002; 70: 1003-8.

135. Bingham PM, Lynch D, McDonald-McGinn D, Zackai E. Polymicrogyria in chromosome 22 deletion syndrome. Neurology 1998; 51: 1500-2.

136. Kawame H, Kurosawa K, Akatsuka A, Ochiai Y, Mizuno K. Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome. Am J Med Genet 2000; 94: 77-8.

137. Worthington S, Turner A, Elber J, Andrews PI. 22q11 deletion and polymicrogyria-cause or coincidence? Clin Dysmorphol 2000; 9: 193-7

138. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scambler PJ. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997; 34: 798-804.

139. Van Bogaert P, Donner C, David P, Rodesch F, Avni EF, Szliwowski HB. Congenital bilateral perisylvian syndrome in a monozygotic twin with intra-uterine death of the co-twin. Dev Med Child Neurol 1996; 38: 166-71.

140. Baker EM, Khorasgani MG, Gardner-Medwin D, Gholkar A, Griffiths PD. Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin. Neuropediatrics 1996; 27: 54-6.

141. Guerrini R, Genton P, Bureau M, Parmeggiani A, Salas-Puig X, Santucci M, Bonanni P, Ambrosetto G, Dravet C. Multilobar polymicrogyria, intractable drop attack seizures and sleep-related electrical status epilepticus. Neurology 1998; 51: 504-12.

142. Pupillo GT, Andermann F, Dubeau F. Bilateral sylvian parieto-occipital polymicrogyria. Neurology 1996; 46 (suppl 2): A303

143. Piao X, Basel-Vanagaite L, Straussberg R, et al. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet 2002; 70: 1028-33.

144. Guerrini R, Parmeggiani A, Bureau M, Dravet C, Genton P, Salas-Puig X, Santucci M, Bonanni P, Ambrosetto G. Localized cortical dysplasia: good seizure outcome after sleep-related electrical status epilepticus. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin B, Pfanner P, eds Dysplasias of cerebral cortex and epilepsy. Lippincott-Raven, Philadelphia-New York 1996: 329-35.

145. Maegaki Y, Yamamoto T, Takeshita K. Plasticity of central motor and sensory pathways in a case of unilateral extensive cortical dysplasia: investigation of magnetic resonance imaging, transcranial magnetic stimulation, and short-latency somatosensory evoked potentials. Neurology 1995; 45: 2255-61.

146. Caraballo, R., Cersosimo, R., Fejerman, N. A particular type of epilepsy in children with congenital hemiparesis associated with unilateral polymicrogyria. Epilepsia 1999; 40: 865-71.

147. Dalla Bernardina B, Fontana E, Michelizza B, Colamaria V, Capovilla G, Tassinari CA. Partial epilepsies of childhood, bilateral synchronization, continuous spike-waves during slow sleep. In: Manelis J, Bental E, Loeber JN, Dreifuss FE, eds. Advances in epileptology: XVIIth Epilepsy International Symposium. New York: Raven Press. 1989: 295-302

148. Kobayashi K, Nishibayashi N, Ohtsuka Y, Oka E, Ohtahara S. Epilepsy with electrical status epilepticus during slow sleep and secondary bilateral synchrony. Epilepsia 1994; 35: 1097-103.

149. Bureau, M., Cordova, S., Dravet, Ch., Roger, J., Tassinari, C.A. (1990): Epilepsie avec pointe-ondes continues pendant le sommeil lent (POCS). Evolution à moyen et long terme. (à propos de 15 cas). Epilepsies 1990; 2: 86-94.

150. Tassinari CA, Bureau M, Dravet Ch, Dalla Bernardina B, Roger J. Epilepsy with continuous spikes and waves during slow sleep - otherwise described as ESES (epilepsy with electrical status epilepticus during slow sleep). In: Roger J, Bureau M, Dravet Ch, Dreifuss F, Perret A, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence, 2nd edition. London: John Libbey, 1992: 245-56.

151. Park YD, Hoffman JM, Radtke RA, DeLong GR. Focal cerebral metabolic abnormality in a patient with continuous spike waves during slow-wave sleep. J Child Neurol. 1994; 9: 139-43.

152. Morrell F, Whisler WW, Bleck TP. Multiple subpial transection: a new approach to the surgical treatment of focal epilepsy. J Neurosurg 1989; 70: 231-9.

153. Morrell F. Electrophysiology of CSWS in Landau-Kleffner syndrome. In: Beaumanoir A, Bureau M, Deonna T, Mira L, Tassinari CA, eds. Continuous spikes and waves during slow sleep. London: John Libbey & Company Ltd, 1995: 77-90.