Advertisement

Epilepsies Associated with Malformations of Cortical Development and Inborn Errors of Metabolism

  • Nadia Bahi-Buisson
Reference work entry

Epilepsy is the most common neurological disorder affecting young people. The etiologies are multiple and most cases are sporadic. However, some rare families with Mendelian inheritance have provided evidence of genes’ important role in epilepsy. Three important but apparently different groups of disorders have been extensively studied: epilepsies associated with malformations of cortical development (MCDs), epilepsies associated with some metabolics disorders and epilepsies associated with a structurally normal brain (or with minimal abnormalities only, also called “idiopathic” epilepsies).

Epilepsies Associated with Malformations of Cortical Development

Epilepsy is often present in patients with malformations of cortical development (MCDs) and tends to be severe, although its incidence and type vary in different malformations. It is estimated that up to 40% of children with drug-resistant epilepsy have a cortical malformation. However, the physiopathological mechanisms relating...

Keywords

Infantile Spasm Biotinidase Deficiency Cortical Malformation Periventricular Nodular Heterotopia GAMT Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER (2006) Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet 78(4):702–707 [Epub 2006 Feb 14]CrossRefPubMedGoogle Scholar
  2. Applegarth DA, Toone JR (2004) Glycine encephalopathy (nonketotic hyperglycinaemia): review and update. J Inherit Metab Dis 27:417–422CrossRefPubMedGoogle Scholar
  3. Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Attie-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S (2007) Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet 39:454–456CrossRefPubMedGoogle Scholar
  4. Bahi-Buisson N, Mention K, Leger PL, Valayanopoulos V, Nabbout R, Kaminska A, Plouin P, Dulac O, de Lonlay P, Desguerre I (2006) Neonatal epilepsy and inborn errors of metabolism. Arch Pediatr 13:284–292CrossRefPubMedGoogle Scholar
  5. Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J (2008) Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. J Med Genet 45:647–653CrossRefPubMedGoogle Scholar
  6. 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 36:609–617CrossRefPubMedGoogle Scholar
  7. Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA (2005) Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A 138(4):307–313PubMedGoogle Scholar
  8. Baxter P (1999) Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 81:431–433CrossRefPubMedGoogle Scholar
  9. Baxter P, Aicardi J (1999) Neonatal seizures after pyridoxine use. Lancet 354:2082–2083CrossRefPubMedGoogle Scholar
  10. Baxter P, Griffiths P, Kelly T, Gardner-Medwin D (1996) Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 38:998–1006CrossRefPubMedGoogle Scholar
  11. Becker PS, Dixon AM, Troncoso JC (1989) Bilateral opercular polymicrogyria. Ann Neurol 25:90–92CrossRefPubMedGoogle Scholar
  12. Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blümcke I (2002) Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. Ann Neurol 52(1):29–37CrossRefPubMedGoogle Scholar
  13. Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM (2005) Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet 77(1):120–126CrossRefPubMedGoogle Scholar
  14. 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(1):94–96CrossRefPubMedGoogle Scholar
  15. Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R (2009) Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology 72(9):784–792CrossRefPubMedGoogle Scholar
  16. Clayton P, Surtees R, DeVile C, Hyland K, Heales S (2003) Neonatal epileptic encephalopathy. The Lancet 361:1614CrossRefGoogle Scholar
  17. Collins JE, Nicholson NS, Dalton N, Leonard JV (1994) Biotinidase deficiency: early neurological presentation. Dev Med Child Neurol 36:268–270CrossRefPubMedGoogle Scholar
  18. Crome L (1956) Pachygyria. J Pathol Bacteriol 71:335–352CrossRefPubMedGoogle Scholar
  19. 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 (1998) Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet 7:1063–1070CrossRefPubMedGoogle Scholar
  20. des Portes V, Soufir N, Carrie A, Billuart P, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, Boue J, Chelly J (1997) Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24. Am J Med Genet 72:324–328CrossRefPubMedGoogle Scholar
  21. D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E (2002) Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain 125(Pt 11):2507–2522CrossRefPubMedGoogle Scholar
  22. DiMauro S, Hirano M, Kaufmann P, Tanji K, Sano M, Shungu DC, Bonilla E, DeVivo DC (2002) Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol 89:217–229PubMedGoogle Scholar
  23. 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 (1996) X-linked malformations of neuronal migration. Neurology 47:331–339PubMedGoogle Scholar
  24. 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 270:2838–2842CrossRefPubMedGoogle Scholar
  25. Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ (1999) Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 53:270–277PubMedGoogle Scholar
  26. 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(Pt 5):1273–1287CrossRefPubMedGoogle Scholar
  27. Dulabon L, Olson EC, Taglienti MG, Eisenhuth S, McGrath B, Walsh CA, Kreidberg JA, Anton ES (2000) Reelin binds alpha3beta1 integrin and inhibits neuronal migration. Neuron 27(1):33–44CrossRefPubMedGoogle Scholar
  28. Dulac O, N’Guyen T (1993) The Lennox-Gastaut syndrome. Epilepsia 34(Suppl 7):S7–S17CrossRefPubMedGoogle Scholar
  29. Ferland RJ, Gaitanis JN, Apse K, Tantravahi U, Walsh CA, Sheen VL (2006) Periventricular nodular heterotopia and Williams syndrome. Am J Med Genet A 140(12):1305–1311PubMedGoogle Scholar
  30. 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 21:1315–1325CrossRefPubMedGoogle Scholar
  31. Galaburda AM, Sherman GF, Rosen GD, Aboitiz F, Geschwind N (1985) Developmental dyslexia: four consecutive patients with cortical anomalies. Ann Neurol 18:222–233CrossRefPubMedGoogle Scholar
  32. Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL (1994) PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 7(4):463–471. Erratum in: Nat Genet 8(2):203CrossRefPubMedGoogle Scholar
  33. Gleeson JG (2000) Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin. Curr Opin Neurol 13:121–125CrossRefPubMedGoogle Scholar
  34. 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 92:63–72CrossRefPubMedGoogle Scholar
  35. Gleeson JG, Lin PT, Flanagan LA, Walsh CA (1999) Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron 23:257–271CrossRefPubMedGoogle Scholar
  36. Grajkowska W, Kotulska K, Matyja E, Larysz-Brysz M, Mandera M, Roszkowski M, Domańska-Pakieła D, Lewik-Kowalik J, Jóźwiak S (2008) Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type. Folia Neuropathol 46(1):43–48PubMedGoogle Scholar
  37. Grant AC, Rho JM (2002) Ictal EEG patterns in band heterotopia. Epilepsia 43:403–407CrossRefPubMedGoogle Scholar
  38. Gropman AL, Barkovich AJ, Vezina LG, Conry JA, Dubovsky EC, Packer RJ (1997) Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients. Neuropediatrics 28:198–203CrossRefPubMedGoogle Scholar
  39. Grosso S, Fichera M, Galesi O, Luciano D, Pucci L, Giardini F, Berardi R, Balestri P (2008) Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation. Dev Med Child Neurol 50(6):473–476CrossRefPubMedGoogle Scholar
  40. 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 63:51–56PubMedGoogle Scholar
  41. Hamosh A, Maher JF, Bellus GA, Rasmussen SA, Johnston MV (1998) Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia. J Pediatr 132:709–713CrossRefPubMedGoogle Scholar
  42. Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA (2000) Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 26:93–96CrossRefPubMedGoogle Scholar
  43. Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G (2001) Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet 69:1127–1133CrossRefPubMedGoogle Scholar
  44. Jaeken J, Corbeel L, Casaer P, Carchon H, Eggermont E, Eeckels R (1977) Dipropylacetate (valproate) and glycine metabolism. Lancet 2:617CrossRefPubMedGoogle Scholar
  45. Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J (2009) Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat GenetGoogle Scholar
  46. Jansen A, Andermann E (2005) Genetics of the polymicrogyria syndromes. J Med Genet 42:369–378CrossRefPubMedGoogle Scholar
  47. Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.胖Nat Genet 39(8):957–959 [Epub 2007 Jul 15]CrossRefPubMedGoogle Scholar
  48. Katayama Y, Maeda K, Iizuka T, Hayashi M, Hashizume Y, Sanada M, Kawai H, Kashiwagi A (2009) Accumulation of oxidative stress around the stroke-like lesions of MELAS patients. Mitochondrion 9:306–313CrossRefPubMedGoogle Scholar
  49. 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 23:147–159CrossRefPubMedGoogle Scholar
  50. Khurana D, Salganicoff L, Melvin J, Hobdell E, Valencia I, Hardison H, Marks H, Grover W, Legido A (2008) Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies. Epilepsia 49:1972CrossRefPubMedGoogle Scholar
  51. Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S (2003) Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. Am J Med Genet A 119A(1):15–19CrossRefPubMedGoogle Scholar
  52. Klepper J (2008) Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia 49(Suppl 8):46–49CrossRefPubMedGoogle Scholar
  53. Kuzniecky R, Andermann F, Guerrini R (1993) Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. Lancet 341:608–612CrossRefPubMedGoogle Scholar
  54. Kuzniecky R, Andermann F, Guerrini R (1994) The epileptic spectrum in the congenital bilateral perisylvian syndrome. CBPS Multicenter Collaborative Study. Neurology 44:379–385PubMedGoogle Scholar
  55. Lee YM, Kang HC, Lee JS, Kim SH, Kim EY, Lee SK, Slama A, Kim HD (2008) Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions. Epilepsia 49:685–690CrossRefPubMedGoogle Scholar
  56. Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG (2003) Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. J Med Genet 40(12):e128CrossRefPubMedGoogle Scholar
  57. Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, Bahi-Buisson N (2008) The location of DCX mutations predicts malformation severity in X-linked lissencephaly. Neurogenetics 9(4):277–285 [Epub 2008 Aug 7]CrossRefPubMedGoogle Scholar
  58. Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB (2001) Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet 9:5–12CrossRefPubMedGoogle Scholar
  59. Nakano M, Abe K, Ono J, Yanagihara T (1998) Intermittent rhythmic delta activity (IRDA) in a patient with band heterotopia. Clin Electroencephalogr 29:138–141PubMedGoogle Scholar
  60. Naviaux RK, Nguyen KV (2004) POLG mutations associated with Alpers’ syndrome and mitochondrial DNA depletion. Ann Neurol 55:706–712CrossRefPubMedGoogle Scholar
  61. Parmeggiani A, Santucci M, Ambrosetto P, Amadi A, Baioni E, Rossi PG (1994) Interictal EEG findings in two cases with ‘double cortex’ syndrome. Brain Dev 16:320–324CrossRefPubMedGoogle Scholar
  62. Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R (2009) Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia 50:1344–1353CrossRefPubMedGoogle Scholar
  63. 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 129:1892–1906CrossRefPubMedGoogle Scholar
  64. 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 70:1028–1033CrossRefPubMedGoogle Scholar
  65. 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, Déscarie JC, Barkovich AJ, Walsh CA (2004) G protein-coupled receptor-dependent development of human frontal cortex. Science 303(5666):2033–2036CrossRefPubMedGoogle Scholar
  66. Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA (2005) Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol 58:680–687CrossRefPubMedGoogle Scholar
  67. 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 8:1757–1760CrossRefPubMedGoogle Scholar
  68. 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 7:2029–2037CrossRefPubMedGoogle Scholar
  69. Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J (2007) Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat 28(11):1055–1064CrossRefPubMedGoogle Scholar
  70. Poolos NP, Das S, Clark GD, Lardizabal D, Noebels JL, Wyllie E, Dobyns WB (2002) Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. Neurology 58:1559–1562PubMedGoogle Scholar
  71. Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depetris D, Mattei MG, Flori E, Robaglia-Schlupp A, Levy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P (2006) SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 15:1195–1207CrossRefPubMedGoogle Scholar
  72. Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N (2009) LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Arch Neurol 66:1007–1015CrossRefPubMedGoogle Scholar
  73. Salbert BA, Pellock JM, Wolf B (1993) Characterization of seizures associated with biotinidase deficiency. Neurology 43:1351–1355PubMedGoogle Scholar
  74. Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C (2001) X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 68:1497–1500CrossRefPubMedGoogle Scholar
  75. 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 10:1775–1783CrossRefPubMedGoogle Scholar
  76. 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(1):69–76CrossRefPubMedGoogle Scholar
  77. Sisodiya SM, Free SL, Williamson KA, Mitchell TN, Willis C, Stevens JM, Kendall BE, Shorvon SD, Hanson IM, Moore AT, van Heyningen V (2001) PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Nat Genet 28:214–216CrossRefPubMedGoogle Scholar
  78. Stockler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K (1996) Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 58:914–922PubMedGoogle Scholar
  79. Tejal NM, Samantha LF, Kathleen AW, John MS, Amanda JC, Isabel MH, Simon DS, Anthony TM, Veronica van H, Sanjay MS (2003) Polymicrogyria and absence of pineal gland due to PAX6 mutation. pp 658–663Google Scholar
  80. Torres OA, Miller VS, Buist NM, Hyland K (1999) Folinic acid-responsive neonatal seizures. J Child Neurol 14:529–532CrossRefPubMedGoogle Scholar
  81. Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A (2003) 14–3–3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet 34:274–285CrossRefPubMedGoogle Scholar
  82. Van Bogaert LJ (1996) Feto-maternal outcome in pre-eclampsia/eclampsia with and without multisystem organ failure managed by strict input/output fluid regimen. East Afr Med J 73:720–723PubMedGoogle Scholar
  83. von Moers A, Brockmann K, Wang D, Korenke CG, Huppke P, De Vivo DC, Hanefeld F (2002) EEG features of glut-1 deficiency syndrome. Epilepsia 43(8):941–945CrossRefPubMedGoogle Scholar
  84. William BD, Ghayda M, Susan LC, Kristin P, Jessica R, Gary DC, Cynthia JRC, Donna M-M, Livija M, Elaine Z, Julie P, Dina JZ, Fuki MH, Christopher AW, Richard JL, Christa LM, Marzena G, Lisa GS (2008) Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. pp 1637–1654Google Scholar
  85. Wolf NI, Bast T, Surtees R (2005) Epilepsy in inborn errors of metabolism. Epileptic Disord 7:67–81PubMedGoogle Scholar
  86. Wolf NI, Smeitink JA (2002) Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. Neurology 59:1402–1405PubMedGoogle Scholar

Copyright information

© Springer-Verlag London Limited 2010

Authors and Affiliations

  • Nadia Bahi-Buisson
    • 1
  1. 1.Department of PediatricsHopital Necker Enfants MaladesParisFrance

Personalised recommendations