Skip to main content
SpringerLink
Log in

Epilepsy in Tuberous Sclerosis Complex

  • Chapter
  • First Online:
Pediatric Epilepsy Surgery

Part of the book series: Advances and Technical Standards in Neurosurgery ((NEUROSURGERY,volume 39))

Abstract

Tuberous Sclerosis Complex (TSC) is an autosomal dominant multisystem disorder, characterized by the presence of hamartomatous lesions involving different organ systems, including the brain. Epilepsy is the most common presenting symptom, representing a major source of morbidity and mortality. Despite multiple antiepileptic drug combinations, in about two thirds of cases the patients present high-frequency drug-resistant epilepsy, and nonpharmacologic options may be considered. The aim of this work was to point out the current knowledge on epileptogenesis in TSC, the available medical therapies and diagnostic tools, and possible surgical strategies, with the intent to better understand the actual difficulties in controlling seizures and the results reported in the literature. There is also a section dedicated to the common association with cognitive impairment and the role of epilepsy control on its outcome.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Ahnlide JA, Rosén I, Lindén-Mickelsson Tech P, Källén K (2007) Does SISCOM contribute to favorable seizure outcome after epilepsy surgery? Epilepsia 48(3):579–588

    PubMed  Google Scholar 

  2. Ando N, Fujimoto S, Ishikawa T, Kobayashi S, Hattori A, Ito T, Togari H (2010) Effectiveness of vigabatrin in west syndrome associated with tuberous sclerosis. No To Hattatsu 42(6):444–448

    PubMed  Google Scholar 

  3. Asano E, Juhász C, Shah A, Muzik O, Chugani DC, Shah J, Sood S, Chugani HT (2005) Origin and propagation of epileptic spasms delineated on electrocorticography. Epilepsia 46(7): 1086–1097

    PubMed  Google Scholar 

  4. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB (2005) A developmental and genetic classification for malformations of cortical development. Neurology 65(12):1873–1887

    PubMed  CAS  Google Scholar 

  5. Ben-Ari Y, Gaiarsa JL, Tyzio R, Khazipov R (2007) GABA: a pioneer transmitter that excites immature neurons and generates primitive oscillations. Physiol Rev 87(4):1215–1284

    PubMed  CAS  Google Scholar 

  6. Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, Schmithorst VJ, Laor T, Brody AS, Bean J, Salisbury S, Franz DN (2008) Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med 358(2):140–151

    PubMed  CAS  Google Scholar 

  7. Bittar RG, Rosenfeld JV, Klug GL, Hopkins IJ, Harvey AS (2002) Resective surgery in infants and young children with intractable epilepsy. J Clin Neurosci 9(2):142–146

    PubMed  Google Scholar 

  8. Boer K, Troost D, Timmermans W, Gorter JA, Spliet WG, Nellist M, Jansen F, Aronica E (2008) Cellular localization of metabotropic glutamate receptors in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex. Neuroscience 156(1):203–215

    PubMed  CAS  Google Scholar 

  9. Boer K, Jansen F, Nellist M, Redeker S, van den Ouweland AM, Spliet WG, van Nieuwenhuizen O, Troost D, Crino PB, Aronica E (2008) Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex. Epilepsy Res 78(1):7–21

    PubMed  CAS  Google Scholar 

  10. Boer K, Troost D, Jansen F, Nellist M, van den Ouweland AM, Geurts JJ, Spliet WG, Crino P, Aronica E (2008) Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex. Neuropathology 28(6):577–590

    PubMed  Google Scholar 

  11. Boer K, Crino PB, Gorter JA, Nellist M, Jansen FE, Spliet WG, van Rijen PC, Wittink FR, Breit TM, Troost D, Wadman WJ, Aronica E (2010) Gene expression analysis of tuberous sclerosis complex cortical tubers reveals increased expression of adhesion and inflammatory factors. Brain Pathol 20(4):704–719, Epub 2009 Oct 8

    PubMed  CAS  Google Scholar 

  12. Bollo RJ, Kalhorn SP, Carlson C, Haegeli V, Devinsky O, Weiner HL (2008) Epilepsy surgery and tuberous sclerosis complex: special considerations. Neurosurg Focus 25(3):E13

    PubMed  Google Scholar 

  13. Bombardieri R, Pinci M, Moavero R, Cerminara C, Curatolo P (2010) Early control of seizures improves long-term outcome in children with tuberous sclerosis complex. Eur J Paediatr Neurol 14(2):146–149

    PubMed  Google Scholar 

  14. Borkowska J, Schwartz RA, Kotulska K, Jozwiak S (2011) Tuberous sclerosis complex: tumors and tumorigenesis. Int J Dermatol 50(1):13–20

    PubMed  Google Scholar 

  15. Bourneville DM (1880) Sclérose tubéreuse des circonvolutions cérébrales. Arch Neurol 1:81–91

    Google Scholar 

  16. Camposano SE, Greenberg E, Kwiatkowski DJ, Thiele EA (2009) Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet 73(2):141–146

    PubMed  CAS  Google Scholar 

  17. Catania MV, D’Antoni S, Bonaccorso CM, Aronica E, Bear MF, Nicoletti F (2007) Group I metabotropic glutamate receptors: a role in neurodevelopmental disorders? Mol Neurobiol 35(3):298–307

    PubMed  CAS  Google Scholar 

  18. Chugani DC, Chugani HT, Muzik O, Shah JR, Shah AK, Canady A, Mangner TJ, Chakraborty PK (1998) Imaging epileptogenic tubers in children with tuberous sclerosis complex using alpha-[11C]methyl-L-tryptophan positron emission tomography. Ann Neurol 44(6):858–866

    PubMed  CAS  Google Scholar 

  19. Chu-Shore CJ, Major P, Montenegro M, Thiele E (2009) Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. Neurology 72(13):1165–1169

    PubMed  Google Scholar 

  20. Chu-Shore CJ, Frosch MP, Grant PE, Thiele EA (2009) Progressive multifocal cystlike cortical tubers in tuberous sclerosis complex: clinical and neuropathologic findings. Epilepsia 50(12):2648–2651

    PubMed  Google Scholar 

  21. Chu-Shore CJ, Major P, Camposano S, Muzykewicz D, Thiele EA (2010) The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 51(7):1236–1241

    PubMed  Google Scholar 

  22. Chu-Shore CJ, Thiele EA (2011) Tuberous sclerosis complex. In: Shorvon SD, Andermann F, Guerrini R (eds) The causes of epilepsy. Cambridge University Press, Cambridge, pp 177–182

    Google Scholar 

  23. Connolly MB, Hendson G, Steinbok P (2006) Tuberous sclerosis complex: a review of the management of epilepsy with emphasis on surgical aspects. Childs Nerv Syst 22(8):896–908

    PubMed  Google Scholar 

  24. Cook T, Joshi C (2011) Gelastic seizures in tuberous sclerosis complex: case report and literature review. J Child Neurol 26(1):83–86

    PubMed  Google Scholar 

  25. Cossu M, Cardinale F, Colombo N, Mai R, Nobili L, Sartori I, Lo Russo G (2005) Stereoelectroencephalography in the presurgical evaluation of children with drug-resistent focal epilepsy. J Neurosurg (Pediatrics 4) 103:333–343

    Google Scholar 

  26. Cossu M, Cardinale F, Castana L, Citterio A, Francione S, Tassi L, Benabid AL, Lo Russo G (2005) Stereoelectroencephalography in the presurgical evaluation of focal epilepsy: retrospective analysis of 215 procedures. Neurosurgery 57:706–718

    PubMed  Google Scholar 

  27. Curatolo P, Verdecchia M, Bombardieri R (2001) Vigabatrin for tuberous sclerosis complex. Brain Dev 23(7):649–653

    PubMed  CAS  Google Scholar 

  28. Curatolo P, Seri S, Verdecchia M, Bombardieri R (2001) Infantile spasms in tuberous sclerosis complex. Brain Dev 23(7):502–507

    PubMed  CAS  Google Scholar 

  29. Curatolo P, Verdecchia M, Bombardieri R (2002) Tuberous sclerosis complex: a review of neurological aspects. Eur J Paediatr Neurol 6(1):15–23

    PubMed  Google Scholar 

  30. Curatolo P, Porfirio MC, Manzi B, Seri S (2004) Autism in tuberous sclerosis. Eur J Paediatr Neurol 8:327–332

    PubMed  Google Scholar 

  31. Curatolo P, Bombardieri R, Verdecchia M, Seri S (2005) Intractable seizures in tuberous sclerosis complex: from molecular pathogenesis to the rationale for treatment. J Child Neurol 20(4):318–325

    PubMed  Google Scholar 

  32. Curatolo P, Bombardieri R, Jozwiak S (2008) Tuberous sclerosis. Lancet 372(9639):657–668

    PubMed  CAS  Google Scholar 

  33. Curatolo P, Napolioni V, Moavero R (2010) Autism spectrum disorders in tuberous sclerosis: pathogenetic pathways and implications for treatment. J Child Neurol 25(7):873–880

    PubMed  Google Scholar 

  34. Curatolo P (2010) Intractable epilepsy in tuberous sclerosis: is the tuber removal not enough? Dev Med Child Neurol 2(11):987

    Google Scholar 

  35. Cusmai R, Chiron C, Curatolo P, Dulac O, Tran-Dinh S (1990) Topographic comparative study of magnetic resonance imaging and electroencephalography in 34 children with tuberous sclerosis. Epilepsia 31(6):747–755

    PubMed  CAS  Google Scholar 

  36. D’Argenzio L, Koch G, Bombardieri R, Mori F, Moavero R, Centonze D, Curatolo P (2009) Abnormal parieto-motor connectivity in tuberous sclerosis complex. Epilepsy Res 87(1): 102–105

    PubMed  Google Scholar 

  37. De Vries P, Humphrey A, McCartney D, Prather P, Bolton P, Hunt A, TSC Behaviour Consensus Panel (2005) Consensus clinical guidelines for the assessment of cognitive and behavioural problems in tuberous sclerosis. Eur Child Adolesc Psychiatry 14(4):183–190

    PubMed  Google Scholar 

  38. Di Michele F, Verdecchia M, Dorofeeva M, Costamagna L, Bernardi G, Curatolo P, Romeo E (2003) GABA(A) receptor active steroids are altered in epilepsy patients with tuberous sclerosis. J Neurol Neurosurg Psychiatry 74(5):667–670

    PubMed  Google Scholar 

  39. Di Rocco C, Iannelli A, Marchese E (1995) On the treatment of subependymal giant cell astrocytomas and associated hydrocephalus in tuberous sclerosis. Pediatr Neurosurg 23(3): 115–121

    PubMed  Google Scholar 

  40. Elliott RE, Carlson C, Kalhorn SP, Moshel YA, Weiner HL, Devinsky O, Doyle WK (2009) Refractory epilepsy in tuberous sclerosis: vagus nerve stimulation with or without subsequent resective surgery. Epilepsy Behav 16(3):454–460

    PubMed  Google Scholar 

  41. Gallagher A, Chu-Shore CJ, Montenegro MA, Major P, Costello DJ, Lyczkowski DA, Muzykewicz D, Doherty C, Thiele EA (2009) Associations between electroencephalographic and magnetic resonance imaging findings in tuberous sclerosis complex. Epilepsy Res 87(2–3):197–202

    PubMed  Google Scholar 

  42. Gallagher A, Grant EP, Madan N, Jarrett DY, Lyczkowski DA, Thiele EA (2010) MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex. J Neurol 257(8):1373–1381

    PubMed  Google Scholar 

  43. Gallagher A, Madan N, Stemmer-Rachamimov A, Thiele EA (2010) Progressive calcified tuber in a young male with tuberous sclerosis complex. Dev Med Child Neurol 52(11): 1062–1065

    PubMed  Google Scholar 

  44. Ganji S, Hellman CD (1985) Tuberous sclerosis: long-term follow-up and longitudinal electroencephalographic study. Clin Electroencephalogr 16(4):219–224

    PubMed  CAS  Google Scholar 

  45. Grajkowska W, Kotulska K, Jurkiewicz E, Matyja E (2010) Brain lesions in tuberous sclerosis complex. Review. Folia Neuropathol 48(3):139–149

    PubMed  Google Scholar 

  46. Gupta A (2009) “Epilepsy surgery recipes galore”: in quest for the epileptogenic tuber in tuberous sclerosis complex. Epileptic Disord 11(1):80–81

    PubMed  Google Scholar 

  47. Hirose T, Scheithauer BW, Lopes MB, Gerber HA, Altermatt HJ, Hukee MJ, VandenBerg SR, Charlesworth JC (1995) Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study. Acta Neuropathol 90(4):387–399

    PubMed  CAS  Google Scholar 

  48. Hofbauer GF, Marcollo-Pini A, Corsenca A, Kistler AD, French LE, Wüthrich RP, Serra AL (2008) The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. Br J Dermatol 159(2):473–475

    PubMed  CAS  Google Scholar 

  49. Hollanda FJCS, Hollanda GMP (1980) Tuberous sclerosis. Neurosurgical indications in intraventricular tumors. Neurosurg Rev 3:139–150

    Google Scholar 

  50. Holmes GL, Stafstrom CE; Tuberous Sclerosis Study Group (2007) Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia 48(4):617–630

    Google Scholar 

  51. Hou L, Klann E (2004) Activation of the phosphoinositide 3-kinase-Akt-mammalian target of rapamycin signaling pathway is required for metabotropic glutamate receptor-dependent long-term depression. J Neurosci 24(28):6352–6361

    PubMed  CAS  Google Scholar 

  52. Humphrey A, Williams J, Pinto E, Bolton PF (2004) A prospective longitudinal study of early cognitive development in tuberous sclerosis - a clinic based study. Eur Child Adolesc Psychiatry 13(3):159–165

    PubMed  Google Scholar 

  53. Jacobs J, Rohr A, Moeller F, Boor R, Kobayashi E, LeVan Meng P, Stephani U, Gotman J, Siniatchkin M (2008) Evaluation of epileptogenic networks in children with tuberous sclerosis complex using EEG-fMRI. Epilepsia 49(5):816–825

    PubMed  Google Scholar 

  54. Jansen FE, van Huffelen AC, Bourez-Swart M, van Nieuwenhuizen O (2005) Consistent localization of interictal epileptiform activity on EEGs of patients with tuberous sclerosis complex. Epilepsia 46(3):415–419

    PubMed  Google Scholar 

  55. Jansen FE, van Huffelen AC, Algra A, van Nieuwenhuizen O (2007) Epilepsy surgery in tuberous sclerosis: a systematic review. Epilepsia 48(8):1477–1484

    PubMed  Google Scholar 

  56. Jansen FE, Braams O, Vincken KL, Algra A, Anbeek P, Jennekens-Schinkel A, Halley D, Zonnenberg BA, van den Ouweland A, van Huffelen AC, van Nieuwenhuizen O, Nellist M (2008) Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology 70(12):908–915

    PubMed  CAS  Google Scholar 

  57. Jansen FE, Vincken KL, Algra A, Anbeek P, Braams O, Nellist M, Zonnenberg BA, Jennekens-Schinkel A, van den Ouweland A, Halley D, van Huffelen AC, van Nieuwenhuizen O (2008) Cognitive impairment in tuberous sclerosis complex is a multifactorial condition. Neurology 70(12):916–923

    PubMed  CAS  Google Scholar 

  58. Jeste SS, Sahin M, Bolton P, Ploubidis GB, Humphrey A (2008) Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol 23(5):520–525

    PubMed  Google Scholar 

  59. Joinson C, O’Callaghan FJ, Osborne JP, Martyn C, Harris T, Bolton PF (2003) Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med 33(2):335–344

    PubMed  CAS  Google Scholar 

  60. Józwiak S, Schwartz RA, Janniger CK, Bielicka-Cymerman J (2000) Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol 15(10):652–659

    PubMed  Google Scholar 

  61. Kaczorowska M, Jurkiewicz E, Domańska-Pakieła D, Syczewska M, Lojszczyk B, Chmielewski D, Kotulska K, Kuczyński D, Kmieć T, Dunin-Wąsowicz D, Kasprzyk-Obara J, Jóźwiak S (2011) Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex. Epilepsia 52(1):22–27

    PubMed  Google Scholar 

  62. Kagawa K, Chugani DC, Asano E, Juhász C, Muzik O, Shah A, Shah J, Sood S, Kupsky WJ, Mangner TJ, Chakraborty PK, Chugani HT (2005) Epilepsy surgery outcome in children with tuberous sclerosis complex evaluated with alpha-[11C]methyl-L-tryptophan positron emission tomography (PET). J Child Neurol 20(5):429–438

    PubMed  Google Scholar 

  63. Karenfort M, Kruse B, Freitag H, Pannek H, Tuxhorn I (2002) Epilepsy surgery outcome in children with focal epilepsy due to tuberous sclerosis complex. Neuropediatrics 33(5): 255–261

    PubMed  CAS  Google Scholar 

  64. Kassiri J, Snyder TJ, Bhargava R, Wheatley BM, Sinclair DB (2011) Cortical tubers, cognition, and epilepsy in tuberous sclerosis. Pediatr Neurol 44(5):328–332

    PubMed  Google Scholar 

  65. Kaufmann R, Kornreich L, Goldberg-Stern H (2009) Unusual clinical presentation of tuberless tuberous sclerosis complex. J Child Neurol 24(3):361–364

    PubMed  Google Scholar 

  66. Kossoff EH, Vining EP, Pillas DJ, Pyzik PL, Avellino AM, Carson BS, Freeman JM (2003) Hemispherectomy for intractable unihemispheric epilepsy etiology vs outcome. Neurology 61(7):887–890

    PubMed  CAS  Google Scholar 

  67. Kossoff EH (2010) Infantile spasms. Neurologist 16(2):69–75

    PubMed  Google Scholar 

  68. Lachhwani DK, Pestana E, Gupta A, Kotagal P, Bingaman W, Wyllie E (2005) Identification of candidates for epilepsy surgery in patients with tuberous sclerosis. Neurology 64(9): 1651–1654

    PubMed  CAS  Google Scholar 

  69. Lazarowski AJ, Lubieniecki FJ, Camarero SA, Pomata HH, Bartuluchi MA, Sevlever G, Taratuto AL (2006) New proteins configure a brain drug resistance map in tuberous sclerosis. Pediatr Neurol 34(1):20–24

    PubMed  Google Scholar 

  70. Leal AJ, Dias AI, Vieira JP, Moreira A, Távora L, Calado E (2008) Analysis of the dynamics and origin of epileptic activity in patients with tuberous sclerosis evaluated for surgery of epilepsy. Clin Neurophysiol 119(4):853–861

    PubMed  Google Scholar 

  71. Leiphart JW, Peacock WJ, Mathern GW (2001) Lobar and multilobar resections for medically intractable pediatric epilepsy. Pediatr Neurosurg 34(6):311–318

    PubMed  CAS  Google Scholar 

  72. Mackay MT, Becker LE, Chuang SH, Otsubo H, Chuang NA, Rutka J, Ben-Zeev B, Snead OC 3rd, Weiss SK (2003) Malformations of cortical development with balloon cells: clinical and radiologic correlates. Neurology 60(4):580–587

    PubMed  CAS  Google Scholar 

  73. Madhavan D, Weiner HL, Carlson C, Devinsky O, Kuzniecky R (2007) Local epileptogenic networks in tuberous sclerosis complex: a case review. Epilepsy Behav 11(1):140–146

    PubMed  Google Scholar 

  74. Madhavan D, Schaffer S, Yankovsky A, Arzimanoglou A, Renaldo F, Zaroff CM, LaJoie J, Weiner HL, Andermann E, Franz DN, Leonard J, Connolly M, Cascino GD, Devinsky O (2007) Surgical outcome in tuberous sclerosis complex: a multicenter survey. Epilepsia 48(8):1625–1628

    PubMed  Google Scholar 

  75. Major P, Thiele EA (2008) Vagus nerve stimulation for intractable epilepsy in tuberous sclerosis complex. Epilepsy Behav 13:357–360

    PubMed  Google Scholar 

  76. Major P, Rakowski S, Simon MV, Cheng ML, Eskandar E, Baron J, Leeman BA, Frosch MP, Thiele EA (2009) Are cortical tubers epileptogenic? Evidence from electrocorticography. Epilepsia 50(1):147–154

    PubMed  Google Scholar 

  77. Maldonado M, Baybis M, Newman D, Kolson DL, Chen W, McKhann G 2nd, Gutmann DH, Crino PB (2003) Expression of ICAM-1, TNF-alpha, NF kappa B, and MAP kinase in tubers of the tuberous sclerosis complex. Neurobiol Dis 14(2):279–290

    PubMed  CAS  Google Scholar 

  78. Matsuo N, Imamura A, Ito R, Sugawara K, Takahashi Y, Kondo N (2007) The correlation between 1H-MR spectroscopy and clinical manifestation with tuberous sclerosis complex. Neuropediatrics 38(3):126–129

    PubMed  CAS  Google Scholar 

  79. Milh M, Villeneuve N, Chapon F, Pineau S, Lamoureux S, Livet MO, Bartoli C, Hugonenq C, Mancini J, Chabrol B, Girard N (2009) Transient brain magnetic resonance imaging hyperintensity in basal ganglia and brain stem of epileptic infants treated with vigabatrin. J Child Neurol 24(3):305–315

    PubMed  Google Scholar 

  80. Mizuguchi M, Takashima S (2001) Neuropathology of tuberous sclerosis. Brain Dev 23(7):508–515

    PubMed  CAS  Google Scholar 

  81. Moavero R, Cerminara C, Curatolo P (2010) Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges. Childs Nerv Syst 26(11):1495–1504

    PubMed  Google Scholar 

  82. Moavero R, Pinci M, Bombardieri R, Curatolo P (2011) The management of subependymal giant cell tumors in tuberous sclerosis: a clinician’s perspective. Childs Nerv Syst 27:1203–1210

    PubMed  Google Scholar 

  83. Moshel YA, Elliott R, Teutonico F, Sellin J, Carlson C, Devinsky O, Weiner HL (2010) Do tubers contain function? Resection of epileptogenic foci in perirolandic cortex in children with tuberous sclerosis complex. Epilepsia 51(7):1242–1251

    PubMed  Google Scholar 

  84. Muncy J, Butler IJ, Koenig MK (2009) Rapamycin reduces seizure frequency in tuberous sclerosis complex. J Child Neurol 24(4):477

    PubMed  Google Scholar 

  85. Napolioni V, Curatolo P (2008) Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics 9(7):475–487

    PubMed  CAS  Google Scholar 

  86. Napolioni V, Moavero R, Curatolo P (2009) Recent advances in neurobiology of tuberous sclerosis complex. Brain Dev 31(2):104–113

    PubMed  Google Scholar 

  87. O’Connor SE, Kwiatkowski DJ, Roberts PS, Wollmann RL, Huttenlocher PR (2003) A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation. Neurology 61(3):409–412

    PubMed  Google Scholar 

  88. Ohta Y, Nariai T, Akimoto H, Shimohira M, Sugimoto J, Ohno K, Senda M, Hirakawa K (2001) Tuberous sclerosis: epileptogenicity and multimodal presurgical evaluations. Childs Nerv Syst 17(6):313–319

    PubMed  CAS  Google Scholar 

  89. Osborne JP, Merrifield J, O’Callaghan FJK (2008) Tuberous sclerosis – what’s new? Arch Dis Child 93(9):728–731

    PubMed  Google Scholar 

  90. Park SH, Pepkowitz SH, Kerfoot C, De Rosa MJ, Poukens V, Wienecke R, DeClue JE, Vinters HV (1997) Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study. Acta Neuropathol 94(2):180–186

    PubMed  CAS  Google Scholar 

  91. Parain D, Penniello MJ, Berquen P, Delangre T, Billard C, Murphy JV (2001) Vagal nerve stimulation in tuberous sclerosis complex patients. Pediatr Neurol 25:213–216

    PubMed  CAS  Google Scholar 

  92. Pascual-Castroviejo I (2008) Vascular birth marks of infancy: PHACE association (Pascual-Castroviejo type II syndrome and Cobb syndrome). In: Ruggieri M, Pascual-Castroviejo I, Di Rocco C (eds) Neurocutaneous disorders: phakomatosis and hamartoneoplastic syndromes. Springer, Wien/New York, pp 19–49

    Google Scholar 

  93. Pascual-Castroviejo I, Alvarez-Linera J, Coya J, Viaño J, Pascual-Pascual SI, Velázquez-Fragua R, López-Gutiérrez JC (2011) Pascual-Castroviejo type II syndrome (P-CIIS). Importance of the presence of persistent embryonic arteries. Childs Nerv Syst 27(4):617–625

    PubMed  Google Scholar 

  94. Pascual-Castroviejo I (2011) Neurosurgical treatment of tuberous sclerosis complex lesions. Childs Nerv Syst 27(8):1211–1219

    PubMed  Google Scholar 

  95. Pellizzi GB (1901) Contributo allo studio dell’idiozia. Riv Sper Freniat 27:265–269

    Google Scholar 

  96. Prather P, de Vries PJ (2004) Behavioral and cognitive aspects of tuberous sclerosis complex. J Child Neurol 19(9):666–674

    PubMed  Google Scholar 

  97. Roach ES, DiMario FJ, Kandt RS, Northrup H (1999) Tuberous sclerosis consensus conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol 14(6):401–407

    PubMed  CAS  Google Scholar 

  98. Romanelli P, Najjar S, Weiner HL, Devinsky O (2002) Epilepsy surgery in tuberous sclerosis: multistage procedures with bilateral or multilobar foci. J Child Neurol 17(9):689–692

    PubMed  Google Scholar 

  99. Romanelli P, Verdecchia M, Rodas R, Seri S, Curatolo P (2004) Epilepsy surgery for tuberous sclerosis. Pediatr Neurol 31(4):239–247

    PubMed  Google Scholar 

  100. Roth J, Olasunkanmi A, Macallister WS, Weil E, Uy CC, Devinsky O, Weiner HL (2011) Quality of life following epilepsy surgery for children with tuberous sclerosis complex. Epilepsy Behav 20(3):561–565

    PubMed  Google Scholar 

  101. Ruggieri M, Hupadhyaya M, Di Rocco C, Gabriele A, Pascual-Castroviejo I (2008) Neurofibromatosis type I and related disorders. In: Ruggieri M, Pascual-Castroviejo I, Di Rocco C (eds) Neurocutaneous disorders: phakomatosis and hamartoneoplastic syndromes. Springer, Wien/New York, pp 51–151

    Google Scholar 

  102. Schwartz RA, Fernández G, Kotulska K, Jóźwiak S (2007) Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol 57(2):189–202

    PubMed  Google Scholar 

  103. Sosunov AA, Wu X, Weiner HL, Mikell CB, Goodman RR, Crino PD, McKhann GM 2nd (2008) Tuberous sclerosis: a primary pathology of astrocytes? Epilepsia 49(Suppl 2):53–62

    PubMed  Google Scholar 

  104. Staley BA, Vail EA, Thiele EA (2011) Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics 127(1):e117–e125

    PubMed  Google Scholar 

  105. Sugiyama I, Imai K, Yamaguchi Y, Ochi A, Akizuki Y, Go C, Akiyama T, Snead OC 3rd, Rutka JT, Drake JM, Widjaja E, Chuang SH, Cheyne D, Otsubo H (2009) Localization of epileptic foci in children with intractable epilepsy secondary to multiple cortical tubers by using synthetic aperture magnetometry kurtosis. J Neurosurg Pediatr 4(6):515–522

    PubMed  Google Scholar 

  106. Talos DM, Kwiatkowski DJ, Cordero K, Black PM, Jensen FE (2008) Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Ann Neurol 63(4):454–465

    PubMed  CAS  Google Scholar 

  107. Tavazoie SF, Alvarez VA, Ridenour DA, Kwiatkowski DJ, Sabatini BL (2005) Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci 8(12):1727–1734

    PubMed  CAS  Google Scholar 

  108. Teutonico F, Mai R, Devinsky O, Lo Russo G, Weiner HL, Borrelli P, Balottin U, Veggiotti P (2008) Epilepsy surgery in tuberous sclerosis complex: early predictive elements and outcome. Childs Nerv Syst 24(12):1437–1445

    PubMed  CAS  Google Scholar 

  109. Thapa M, Khanna PC (2010) Vigabatrin-associated diffusion MRI abnormalities in tuberous sclerosis. Pediatr Radiol 40(Suppl 1):S153

    PubMed  Google Scholar 

  110. Toering ST, Boer K, de Groot M, Troost D, Heimans JJ, Spliet WG, van Rijen PC, Jansen FE, Gorter JA, Reijneveld JC, Aronica E (2009) Expression patterns of synaptic vesicle protein 2A in focal cortical dysplasia and TSC-cortical tubers. Epilepsia 50(6):1409–1418

    PubMed  CAS  Google Scholar 

  111. Valencia I, Legido A, Yelin K, Khurana D, Kothare SV, Katsetos CD (2006) Anomalous inhibitory circuits in cortical tubers of human tuberous sclerosis complex associated with refractory epilepsy: aberrant expression of parvalbumin and calbindin-D28k in dysplastic cortex. J Child Neurol 21(12):1058–1063

    PubMed  Google Scholar 

  112. van der Heide A, van Huffelen AC, Spetgens WP, Ferrier CH, van Nieuwenhuizen O, Jansen FE (2010) Identification of the epileptogenic zone in patients with tuberous sclerosis: concordance of interictal and ictal epileptiform activity. Clin Neurophysiol 121(6):842–847

    PubMed  Google Scholar 

  113. Vigliano P, Canavese C, Bobba B, Genitori L, Papalia F, Padovan S, Forni M (2002) Transmantle dysplasia in tuberous sclerosis: clinical features and surgical outcome in four children. J Child Neurol 17(10):752–758

    PubMed  Google Scholar 

  114. Weiner HL (2004) Tuberous sclerosis and multiple tubers: localizing the epileptogenic zone. Epilepsia 45(4):41–42

    PubMed  Google Scholar 

  115. Westmoreland B (1999) The electroencephalogram in tuberous sclerosis. In: Gomez MR, Sampson JR, Whittemore VH (eds) Tuberous sclerosis complex: developmental perspective in psychiatry, 3rd edn. Oxford University Press, New York, pp 63–74

    Google Scholar 

  116. White R, Hua Y, Scheithauer B, Lynch DR, Henske EP, Crino PB (2001) Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers. Ann Neurol 49(1):67–78

    PubMed  CAS  Google Scholar 

  117. Willmore LJ, Abelson MB, Ben-Menachem E, Pellock JM, Shields WD (2009) Vigabatrin: 2008 update. Epilepsia 50(2):163–173

    PubMed  CAS  Google Scholar 

  118. Wong M, Ess KC, Uhlmann EJ, Jansen LA, Li W, Crino PB, Mennerick S, Yamada KA, Gutmann DH (2003) Impaired glial glutamate transport in a mouse tuberous sclerosis epilepsy model. Ann Neurol 54(2):251–256

    PubMed  CAS  Google Scholar 

  119. Wu JY, Sutherling WW, Koh S, Salamon N, Jonas R, Yudovin S, Sankar R, Shields WD, Mathern GW (2006) Magnetic source imaging localizes epileptogenic zone in children with tuberous sclerosis complex. Neurology 66(8):1270–1272

    PubMed  CAS  Google Scholar 

  120. Wu JY, Salamon N, Kirsch HE, Mantle MM, Nagarajan SS, Kurelowech L, Aung MH, Sankar R, Shields WD, Mathern GW (2010) Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex. Neurology 74(5):392–398

    PubMed  CAS  Google Scholar 

  121. Yapici Z, Dörtcan N, Baykan BB, Okan F, Dinçer A, Baykal C, Eraksoy M, Roach S (2007) Neurological aspects of tuberous sclerosis in relation to MRI/MR spectroscopy findings in children with epilepsy. Neurol Res 29(5):449–454

    PubMed  Google Scholar 

  122. Zamponi N, Petrelli C, Passamonti C, Moavero R, Curatolo P (2010) Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis. Pediatr Neurol 43(1):29–34

    PubMed  Google Scholar 

  123. Zaroff CM, Devinsky O, Miles D, Barr WB (2004) Cognitive and behavioral correlates of tuberous sclerosis complex. J Child Neurol 19(11):847–852

    PubMed  Google Scholar 

  124. Zaroff CM, Barr WB, Carlson C, LaJoie J, Madhavan D, Miles DK, Nass R, Devinsky O (2006) Mental retardation and relation to seizure and tuber burden in tuberous sclerosis complex. Seizure 15(7):558–562

    PubMed  Google Scholar 

  125. Zeng LH, Xu L, Gutmann DH, Wong M (2008) Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann Neurol 63(4):444–453

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatric Neurosurgery, Catholic University Medical School, Largo A. Gemelli 1, 00168, Rome, Italy

    Federica Novegno M.D., Luca Massimi M.D. & Concezio Di Rocco M.D.

Authors
  1. Federica Novegno M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Luca Massimi M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Concezio Di Rocco M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Federica Novegno M.D. .

Editor information

Editors and Affiliations

  1. Fac. Medicine, Dept. Neurosurgery, Hacettepe University, Sihhiye, Ankara, 06100, Turkey

    Nejat Akalan

  2. Ist. Neurochirurgia, Dipto. Neuroscienze, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli 8, Roma, 00168, Italy

    Concezio Di Rocco

Rights and permissions

Reprints and permissions

Copyright information

© 2012 Springer-Verlag Wien

About this chapter

Cite this chapter

Novegno, F., Massimi, L., Rocco, C.D. (2012). Epilepsy in Tuberous Sclerosis Complex. In: Akalan, N., Di Rocco, C. (eds) Pediatric Epilepsy Surgery. Advances and Technical Standards in Neurosurgery, vol 39. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1360-8_6

Download citation

  • DOI: https://doi.org/10.1007/978-3-7091-1360-8_6

  • Published:

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-7091-1359-2

  • Online ISBN: 978-3-7091-1360-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation