Genetic malformations of cortical development (original) (raw)

References

• Assadi AH, Zhang G, Beffert U, McNeil RS, Renfro AL, Niu S, Quattrocchi CC, Antalffy BA, Sheldon M, Armstrong DD, Wynshaw-Boris A, Herz J, D’Arcangelo G, Clark GD (2003) Interaction of reelin signaling and Lis1 in brain development. Nat Genet 35:270–276
  Article PubMed CAS Google Scholar
• Baker EM, Khorasgani MG, Gardner-Medwin D, Gholkar A, Griffiths PD (1996) Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin. Neuropediatrics 27:54–56
  Article PubMed CAS Google Scholar
• Barkovich A (1995) Pediatric neuroimaging. Raven Press, New York
  Google Scholar
• Barkovich AJ, Kjos BO (1992) Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits. AJNR Am J Neuroradiol 13:95–103
  PubMed CAS Google Scholar
• Barkovich AJ, Guerrini R, Battaglia G, Kalifa G, N’Guyen T, Parmeggiani A, Santucci M, Giovanardi-Rossi P, Granata T, D’Incerti L (1994) Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol 36:609–617
  Article PubMed CAS Google Scholar
• Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB (2001) Classification system for malformations of cortical development: update 2001. Neurology 57:2168–2178
  PubMed CAS Google Scholar
• Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB (2005) A developmental and genetic classification for malformations of cortical development. Neurology 65:1873–1887
  Article PubMed CAS Google Scholar
• Bingham PM, Lynch D, McDonald-McGinn D, Zackai E (1998) Polymicrogyria in chromosome 22 delection syndrome. Neurology 51:1500–1502
  PubMed CAS Google Scholar
• Bix GJ, Clark GD (1998) Platelet-activating factor receptor stimulation disrupts neuronal migration in vitro. J Neurosci 18:307–318
  PubMed CAS Google Scholar
• Bonneau D, Toutain A, Laquerriere A, Marret S, Saugier-Veber P, Barthez MA, Radi S, Biran-Mucignat V, Rodriguez D, Gelot A (2002) X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol 51:340–349
  Article PubMed Google Scholar
• Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS (2005) Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 77:477–83
  Article PubMed CAS Google Scholar
• Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E (1996) Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 12:94–96
  Article PubMed CAS Google Scholar
• 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 (2000) The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet 9:3019–3028
  Article PubMed CAS Google Scholar
• Carroll RC, Gerrard JM (1982) Phosphorylation of platelet actin-binding protein during platelet activation. Blood 59:466–71
  PubMed CAS Google Scholar
• Chen M, Stracher A (1989) In situ phosphorylation of platelet actin-binding protein by cAMPdependent protein kinase stabilizes it against proteolysis by calpain. J Biol Chem 264:14282–9
  PubMed CAS Google Scholar
• D’Arcangelo G (2006) Reelin mouse mutants as models of cortical development disorders. Epilepsy Behav 8:81–90
  Article PubMed Google Scholar
• Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH (1993) Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 270:2838–2842
  Article PubMed CAS Google Scholar
• Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont ME, Breningstall G, Yock DH Jr, Bonanni P, Truwit CL (1997) Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology 49:1042–1047
  PubMed CAS Google Scholar
• Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D (1999a) X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet 86:331–337
  Article CAS Google Scholar
• Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ (1999b) Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 53:270–277
  CAS Google Scholar
• Dubeau F, Tampieri D, Lee N, Andermann E, Carpenter S, Leblanc R, Olivier A, Radtke R, Villemure JG, Andermann F (1995) Periventricular and subcortical nodular heterotopia. A study of 33 patients. Brain 118:1273–1287
  Article PubMed Google Scholar
• Eksioglu YZ, Scheffer IE, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, Kamuro K, Berkovic SF, Duyk GM, Parisi J, Huttenlocher PR, Walsh CA (1996) Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 16:77–87
  Article PubMed CAS Google Scholar
• Ferrer I (1984) A Golgi analysis of unlayered polymicrogyria. Acta Neuropathol (Berl) 65:69–76
  Article CAS Google Scholar
• Fink JM, Dobyns WB, Guerrini R, Hirsch BA (1997) Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet 61:379–387
  Article PubMed CAS Google Scholar
• 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 (1998) Mutations in Filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21:1315–1325
  Article PubMed CAS Google Scholar
• Friede R (1989) Developmental neuropathology. Springer, Berlin Heidelberg New York
  Google Scholar
• Galaburda AM, Sherman GF, Rosen GD, Aboitiz F, Geschwind N (1985) Developmental dyslexia: four consecutive patients with cortical anomalies. Ann Neurol 18:222–233
  Article PubMed CAS Google Scholar
• Geerdink N, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, Gabreels FJ, Mullaart RA, Hamel BC (2002) MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. Neuropediatrics 33:33–36
  Article PubMed CAS Google Scholar
• Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA (1998) doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 92:63–72
  Article PubMed CAS Google Scholar
• 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. (1999) Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol 45:146–153
  Article PubMed CAS Google Scholar
• 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 (2000a) Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol 47:265–269
  Article CAS Google Scholar
• Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA (2000b) Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet 67:574–581
  Article CAS Google Scholar
• Gorlin JB, Yamin R, Egan S, Stewart M, Stossel TP, Kwiatkowski DJ, Hartwig JH (1990) Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring. J Cell Biol 111:1089–1105
  Article PubMed CAS Google Scholar
• Granata T, Farina L, Faiella A, Cardini R, D’Incerti L, Boncinelli E, Battaglia G (1997) Familial schizencephaly associated with EMX2 mutation. Neurology 48:1403–1406
  PubMed CAS Google Scholar
• 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 (2000) Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol 48:39–48
  Article PubMed CAS Google Scholar
• Guerrini R (2004) Do heterotopic neurons think? Neurology, 62:1
  Google Scholar
• Guerrini R, Carrozzo R (2001a) Epilepsy and genetic malformations of the cerebral cortex. Am J Med Genet 106:160–173
  Article CAS Google Scholar
• Guerrini R, Carrozzo R (2001b) Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. Seizure 10:532–543
  Article CAS Google Scholar
• Guerrini R, Filippi T (2005) Neuronal migration disorders, genetics, and epileptogenesis. J Child Neurol 20:287–299
  Article PubMed Google Scholar
• Guerrini R, Dravet C, Raybaud C, Roger J, Bureau M, Battaglia A, Livet MO, Colicchio G, Robain O (1992a) Neurological findings and seizure outcome in children with bilateral opercular macrogyric-like changes detected by MRI. Dev Med Child Neurol 34:694–705
  Article CAS Google Scholar
• Guerrini R, Dravet C, Raybaud C, Roger J, Bureau M, Battaglia A, Livet MO, Gambarelli D, Robain O (1992b) Epilepsy and focal gyral anomalies detected by MRI: electroclinico-morphological correlations and follow-up. Dev Med Child Neurol 34:706–718
  Article CAS Google Scholar
• Guerrini R, Dubeau F, Dulac O, Barkovich AJ, Kuzniecky R, Fett C, Jones-Gotman M, Canapicchi R, Cross H, Fish D, Bonanni P, Jambaque I, Andermann F (1997) Bilateral parasagittal parietooccipital polymicrogyria and epilepsy. Ann Neurol 41:65–73
  Article PubMed CAS Google Scholar
• Guerrini R, Genton P, Bureau M, Parmeggiani A, Salas-Puig X, Santucci M, Bonanni P, Ambrosetto G, Dravet C (1998) Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus. Neurology 51:504–512
  PubMed CAS Google Scholar
• Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB (2000) Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology 54:909–913
  PubMed CAS Google Scholar
• Guerrini R, Holthausen H, Parmeggiani L, Chiron C (2002) Epilepsy and malformations of the cerebral cortex. In: Roger JBM, Dravet C, Genton P, Tassinari CA, Wolf P (eds) Epileptic syndromes in infancy, childhood and adolescence. John Libbey, London, pp 457–579
  Google Scholar
• Guerrini R, Moro F, Andermann E, Hughes E, D’Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S (2003) Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol 54:30–37
  Article PubMed Google Scholar
• Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Kramer G, Moro F, Dobyns WB, Parrini E (2004) Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology 63:51–56
  PubMed CAS Google Scholar
• Guion-Almeida ML, Richieri-Costa A (1999) Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Clin Dysmorphol 8:1–4
  Article PubMed CAS Google Scholar
• Harding B, Copp A (1997) Malformations of the nervous system. In: Graham J, Lantos PL (eds) Greenfields neuropathology. Edward Arnold, London, pp 521–538
  Google Scholar
• Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K (1994) Miller–Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. Nature 370:216–218
  Article PubMed CAS Google Scholar
• Hiesberger T, Trommsdorff M, Howell BW, Goffinet A, Mumby MC, Cooper JA, Herz J (1999) Direct binding of reelin to VLDL receptor and apoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation. Neuron 24:481–489
  Article PubMed CAS Google Scholar
• Hock RS, Davis G, Speicher DW (1990) Purification of human smooth muscle filamin and characterization of structural domains and functional sites. Biochemistry 29:9441–9451
  Article PubMed CAS Google Scholar
• Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA (2000) Autosomal recessive lissencephaly with cerebellar hypoplasia (LCH) is associated with human reelin gene mutations. Nat Genet 26:93–96
  Article PubMed CAS Google Scholar
• Hosley MA, Abroms IF, Ragland RL (1992) Schizencephaly: case report of familial incidence. Pediatr Neurol 8:148–150
  Article PubMed CAS Google Scholar
• Jansen A, Andermann E (2005) Genetics of the polymicrogyria syndromes. J Med Genet 42:369–378
  Article PubMed CAS Google Scholar
• Kato M, Dobyns WB (2003) Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 12:89–96
  Article CAS Google Scholar
• Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB (2004) Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation. Hum Mutat 23:147–159
  Article PubMed CAS Google Scholar
• Keng WT, Pilz DT, Minns B, FitzPatrick DR (2003) A3243G mitochondrial mutation associated with polymicrogyria. Dev Med Child Neurol 45:704–708
  Article PubMed CAS Google Scholar
• Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K (2002) Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 32:359–369
  Article PubMed CAS Google Scholar
• Kothare SV, VanLandingham K, Armon C, Luther JS, Friedman A, Radtke RA (1998) Seizure onset from periventricular nodular heterotopias: depth-electrode study. Neurology 51:1723–1727
  PubMed CAS Google Scholar
• Kuzniecky R, Andermann F, Guerrini R, Study CMC (1993a) Congenital bilateral perisylvian syndrome: study of 31 patients. The Lancet 341:608–612
  Article CAS Google Scholar
• Kuzniecky RI (1994) Magnetic resonance imaging in developmental disorders of the cerebral cortex. Epilepsia 35(6):S44–S56
  Article PubMed Google Scholar
• Kuzniecky R, Andermann F, Guerrino R, Study CC (1993b) Seizures in the congenital bilateral Perisylvian syndrome. Epilepsia 34(2):65
  Google Scholar
• Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB (2001) LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology 57:416–422
  PubMed CAS Google Scholar
• Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH (1997) Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller–Dieker syndrome. Hum Mol Genet 6:157–164
  Article PubMed CAS Google Scholar
• Loo DT, Kanner SB, Aruffo A (1998) Filamin binds to the cytoplasmic domain of the beta1-integrin. Identification of amino acids responsible for this interaction. J Biol Chem 273:23304–23312
  Article PubMed CAS Google Scholar
• Meyer S, Zuerbig S, Cunningham CC, Hartwig JH, Bissell T, Gardner K, Fox JE (1997) Identification of the region in actin-binding protein that binds to the cytoplasmic domain of glycoprotein IBalpha. J Biol Chem 272:2914–2919
  Article PubMed CAS Google Scholar
• Mitchell T, Free SL, Williamson KA, Stevens JM, Churchill AJ, Hanson IM, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM (2003) Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol 53:658–663
  Article PubMed CAS Google Scholar
• Morioka T, Nishio S, Sasaki M, Yoshida T, Kuwabara Y, Ohta M, Fukui M (1999) Functional imaging in periventricular nodular heterotopia with the use of FDG-PET and HMPAO-SPECT. Neurosurg Rev 22:41–44
  Article PubMed CAS Google Scholar
• Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R (2002) Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. Neurology 58:916–921
  PubMed CAS Google Scholar
• Morris NR, Efimov VP, Xiang X (1998) Nuclear migration, nucleokinesis and lissencephaly. Trends Cell Biol 8:467–470
  Article PubMed CAS Google Scholar
• Noegel AA, Leiting B, Witke W, Gurniak C, Harloff C, Hartmann H, Wiesmuller E, Schleicher M (1989) Biological roles of actin-binding proteins in Dictyostelium discoideum examined using genetic techniques. Cell Motil Cytoskeleton 14:69–74
  Article PubMed CAS Google Scholar
• Ohira R, Zhang YH, Guo W, Dipple K, Shih SL, Doerr J, Huang BL, Fu LJ, Abu-Khalil A, Geschwind D, McCabe ER (2002) Human ARX gene: genomic characterization and expression. Mol Genet Metab 77:179–188
  Article PubMed CAS Google Scholar
• Ott I, Fischer EG, Miyagi Y, Mueller BM, Ruf W (1998) A role for tissue factor in cell adhesion and migration mediated by interaction with actin-binding protein 280. J Cell Biol 140:1241–1253
  Article PubMed CAS Google Scholar
• Parrini E, Mei D, Wright M, Dorn T, Guerrini R (2004) Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. Neurogenetics 5:191–196
  Article PubMed CAS Google Scholar
• Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R. (2006) Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain (in press)
• Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, Doan B, Hong SE, Shugart YY, Walsh CA (2002) An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2–21. Am J Hum Genet 70:1028–1033
  Article PubMed CAS Google Scholar
• Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Descarie JC, Barkovich AJ, Walsh CA (2004) G protein-coupled receptor-dependent development of human frontal cortex. Science 303:2033–2036
  Article PubMed CAS Google Scholar
• Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME (1998) LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 7:2029–2037
  Article PubMed CAS Google Scholar
• Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH (1999) Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet 8:1757–1760
  Article PubMed CAS Google Scholar
• 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 (1998) A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 92:51–61
  Article PubMed CAS Google Scholar
• Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH (1993) Isolation of a Miller–Dieker lissencephaly gene containing G protein b-subunit-like repeats. Nature 364:717–721
  Article PubMed CAS Google Scholar
• Robain O (1996) Introduction to the pathology of cerebral cortical dysplasia. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin B, Pfanner P (eds) Dysplasias of cerebral cortex and epilepsy. Lippincott-Raven, Philadelphia, pp 1–9
  Google Scholar
• Ross ME, Swanson K, Dobyns WB (2001) Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 32:256–263
  Article PubMed CAS Google Scholar
• Sapir T, Elbaum M, Reiner O (1997) Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit. EMBO J 16:6977–6984
  Article PubMed CAS Google Scholar
• Sharma CP, Ezzell RM, Arnaout MA (1995) Direct interaction of filamin (ABP-280) with the beta 2-integrin subunit CD18. J Immunol 154:3461–3470
  PubMed CAS Google Scholar
• 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 (2001) 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
  Article PubMed CAS Google Scholar
• Sheen VL, Topcu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill RS, Ganesh VS, Cherry TJ, Shugart YY, Walsh CA (2003) Autosomal recessive form of periventricular heterotopia. Neurology 60:1108–1112
  PubMed CAS Google Scholar
• Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA (2004) Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet 36:69–76
  Article PubMed CAS Google Scholar
• Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R (2003a) Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology 61:1042–1046
  CAS Google Scholar
• Sicca F, Silengo M, Parrini E, Ferrero GB, Guerrini R (2003b) Subcortical band heterotopia with simplified gyral pattern and syndactyly. Am J Med Genet A 119:207–210
  Article Google Scholar
• Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gecz J (2002) Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 30:441–445
  Article PubMed CAS Google Scholar
• Sztriha L, Guerrini R, Harding B, Stewart F, Chelloug N, Johansen JG (2004) Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome. Am J Med Genet A 127:313–317
  Article PubMed Google Scholar
• Van Bogaert P, Donner C, David P, Rodesch F, Avni EF, Szliwowski HB (1996) Congenital bilateral perisylvian syndrome in a monozygotic twin with intra-uterine death of the co-twin. Dev Med Child Neurol 38:166–170
  Article PubMed Google Scholar
• Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM Jr, Winter RM, Leventer RJ, Dobyns WB (2002) A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet 70:1003–1008
  Article PubMed CAS Google Scholar
• Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, Ramazzotti A, Guerrini R, Dobyns WB (2005) Periventricular nodular heterotopia with overlying polymicrogyria. Brain 128:2811–2821
  Article PubMed Google Scholar
• Zhang W, Han SW, McKeel DW, Goate A, Wu JY (1998) Interaction of presenilins with the filamin family of actin-binding proteins. J Neurosci 18:914–922
  PubMed CAS Google Scholar

Download references