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Epileptic Encephalopathies of Infancy and Childhood

  • Mario BrinciottiEmail author
  • Maria Matricardi
Chapter

Abstract

The term “epileptic encephalopathies” has been recently revised, restricting the criterion of inclusion to the forms in which the epilepsy itself is responsible of brain dysfunctions associated with mental and neurologic decline. This chapter describes the clinical and EEG features of the main epileptic encephalopathies that begin in infancy and childhood (West syndrome, Dravet syndrome, Lennox-Gastaut syndrome, Doose syndrome, progressive myoclonic epilepsies, Landau-Kleffner syndrome, electrical status epilepticus during slow sleep). Incidence and prevalence of these epilepsies are generally low. The electro-clinical feature is influenced by the brain maturation; some syndromes are typically age-dependent and show a clear continuity with evolution from one type to another. The etiology is heterogeneous, often consisting of structural brain damage, although the role of genetic factors has recently been emphasized in some forms. The prognosis is variable, depending on clinical finding and underlying etiology, but it is generally unfavorable both for seizure outcome and neurocognitive development.

Keywords

Epileptic encephalopathies Infancy Childhood West Dravet Lennox-Gastaut 

References

  1. 1.
    Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross H, van Emde Boas W, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia. 2010;51:676–85.PubMedPubMedCentralCrossRefGoogle Scholar
  2. 2.
    Engel J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE task force on classification and terminology. Epilepsia. 2001;42:796–803.PubMedCrossRefGoogle Scholar
  3. 3.
    Dulac O. Epileptic encephalopathy. Epilepsia. 2001;42(Suppl 3):23–6.PubMedCrossRefGoogle Scholar
  4. 4.
    Capovilla G, Wolf P, Beccaria F, Avanzini G. The history of the concept of epileptic encephalopathy. Epilepsia. 2013;54(Suppl 8):2–5.PubMedCrossRefGoogle Scholar
  5. 5.
    Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, et al. The genetic landscape of infantile spasms. Hum Mol Genet. 2014;23(18):4846–58.PubMedCrossRefGoogle Scholar
  6. 6.
    Epi4K Consortium; Epilepsy Phenome/Genome Project, et al. De novo mutations in epileptic encephalopathies. Nature. 2013;501(7466):217–21.CrossRefGoogle Scholar
  7. 7.
    Sidenvall R, Eeg-Olofsson O. Epidemiology of infantile spasms in Sweden. Epilepsia. 1995;36:572–4.PubMedCrossRefGoogle Scholar
  8. 8.
    Ludvigsson P, Olafsson E, Siguroardottir S, Hauser WA. Epidemiologic features of infantile spasms in Iceland. Epilepsia. 1994;35:802–5.CrossRefGoogle Scholar
  9. 9.
    Trevathan E, Murphy CC, Yeargin-Allsopp M. The descriptive epidemiology of infantile spasms among Atlanta children. Epilepsia. 1999;40:748–51.PubMedCrossRefGoogle Scholar
  10. 10.
    Lee WL, Ong HT. Epidemiology of West syndrome in Singapore. Brain and Development. 2001;23(7):584–5.PubMedCrossRefGoogle Scholar
  11. 11.
    Ohtahara S, Yamatogi Y. Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol. 2003;20:398–407.PubMedCrossRefGoogle Scholar
  12. 12.
    Ohtahara S, Yamatogi Y. Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. Epilepsy Res. 2006;70(Suppl 1):S58–67.PubMedCrossRefGoogle Scholar
  13. 13.
    Wirrell EC, Shellhaas RA, Joshi C, Keator C, Kumar S, Mitchell WG. Pediatric Epilepsy Research Consortium. How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium. Epilepsia. 2015;56(4):617–25.PubMedCrossRefGoogle Scholar
  14. 14.
    West WJ. On a peculiar form of infantile convulsions. Lancet. 1841;1:724–5.CrossRefGoogle Scholar
  15. 15.
    Guzzetta F, Dalla Bernardina B, Guerrini R. Progress in epileptic spasms and West syndrome. 1st ed. Montrouge: John Libbey Eurotext; 2007.Google Scholar
  16. 16.
    Lee YJ, Berg AT, Nordli DR Jr. Clinical spectrum of epileptic spasms in children. Brain and Development. 2015;37(1):37–48.PubMedCrossRefGoogle Scholar
  17. 17.
    Lux AL, Osborne JP. A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. Epilepsia. 2004;45(11):1416–28.PubMedCrossRefGoogle Scholar
  18. 18.
    De Menezes MA, Rho JM. Clinical and electrographic features of epileptic spasms persisting beyond the second year of life. Epilepsia. 2002;43(6):623–30.PubMedCrossRefGoogle Scholar
  19. 19.
    Xue J, Qian P, Li H, Yang H, Liu X, Zhang Y, et al. Atonic elements combined or uncombined with epileptic spasms in infantile spasms. Clin Neurophysiol. 2017;128(1):220–6.PubMedCrossRefGoogle Scholar
  20. 20.
    Caraballo RH, Fortini S, Reyes G, Carpio Ruiz A, Sanchez Fuentes SV, Ramos B. Epileptic spasms in clusters and associated syndromes other than West syndrome: a study of 48 patients. Epilepsy Res. 2016;123:29–35.PubMedCrossRefGoogle Scholar
  21. 21.
    Hrachovy RA, Frost JD Jr. Infantile spasms. Handb Clin Neurol. 2013;111:611–8.PubMedCrossRefGoogle Scholar
  22. 22.
    Kobayashi K, Inoue T, Kikumoto K, Endoh F, Miya K, Oka M, et al. Relation of spasms and myoclonus to suppression-burst on EEG in epileptic encephalopathy in early infancy. Neuropediatrics. 2007;38(5):244–50.PubMedCrossRefGoogle Scholar
  23. 23.
    Riikonen R. Long-term outcome of patients with West syndrome. Brain and Development. 2001;23:683–7.PubMedCrossRefGoogle Scholar
  24. 24.
    Lux AL, Osborne JP. The influence of etiology upon ictal semiology, treatment decisions and long-term outcomes in infantile spasms and West syndrome. Epilepsy Res. 2006;70S:S77–86.CrossRefGoogle Scholar
  25. 25.
    Dravet C. Les epilepsies graves de l’enfant. Vie Med. 1978;8:543–8.Google Scholar
  26. 26.
    Hurst DL. Epidemiology of severe myoclonic epilepsy of infancy. Epilepsia. 1990;31(4):397–400.PubMedCrossRefGoogle Scholar
  27. 27.
    Yakoub M, Dulac O, Jambaqué I, Chiron C, Plouin P. Early diagnosis of severe myoclonic epilepsy in infancy. Brain and Development. 1992;14(5):299–303.PubMedCrossRefGoogle Scholar
  28. 28.
    Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, et al. The genetics of Dravet syndrome. Epilepsia. 2011;52(Suppl 2):24–9.PubMedCrossRefGoogle Scholar
  29. 29.
    Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;5(Suppl 2):3–9.CrossRefGoogle Scholar
  30. 30.
    Dalla Bernardina B, Capovilla G, Chiamenti C, Trevisan E, Colamaria V, Fontana E. Cryptogenic myoclonic epilepsies of infancy and early childhood: nosological and prognostic approach. In: Wolf P, Dam M, Janz D, Dreifuss FE, editors. Advances in epileptology, vol. 16. New York: Raven Press; 1987. p. 175–80.Google Scholar
  31. 31.
    Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence. 4th ed. London: John Libbey Eurotext Ltd; 2005. p. 89–113.Google Scholar
  32. 32.
    Oguni H, Hayashi K, Awaya Y, Fukuyama Y, Osawa M. Severe myoclonic epilepsy in infants—a review based on the Tokyo Women’s medical university series of 84 cases. Brain and Development. 2001;23:736–48.PubMedCrossRefGoogle Scholar
  33. 33.
    Ragona F, Brazzo D, De Giorgi I, Morbi M, Freri E, Teutonico F, et al. Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients. Brain and Development. 2010;32:71–7.PubMedCrossRefGoogle Scholar
  34. 34.
    Dalla Bernardina B, Capovilla G, Gattoni MB. Epilepsie myoclonique grave de la première année. Rev EEG Neurophysiol. 1982;12:21–5.Google Scholar
  35. 35.
    Ohki T, Watanabe K, Negoro K, Aso K, Haga Y, Kasai K, et al. Severe myoclonic epilepsy in infancy: evolution of seizures. Seizure. 1997;6:219–24.PubMedCrossRefGoogle Scholar
  36. 36.
    Bureau M, Dalla Bernardina B. Electroencephalographic characteristics of Dravet syndrome. Epilepsia. 2011;52(Suppl 2):13–23.PubMedCrossRefGoogle Scholar
  37. 37.
    Dravet C, Bureau M, Guerrini R, Giraud N, Roger J. Severe myoclonic epilepsy in infants. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf AP, editors. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London: John Libbey Eurotext Ltd; 1992. p. 75–88.Google Scholar
  38. 38.
    Arzimanoglou A, French J, Blume WT, Cross JH, Ernst JP, Feucht M, et al. Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol. 2009;8(1):82–93.PubMedCrossRefGoogle Scholar
  39. 39.
    Markand ON. Lennox-Gastaut syndrome (childhood epileptic encephalopathy). J Clin Neurophysiol. 2003;20(6):426–41.PubMedCrossRefGoogle Scholar
  40. 40.
    Camfield PR. Definition and natural history of Lennox-Gastaut syndrome. Epilepsia. 2011;52(Suppl 5):3–9.PubMedCrossRefGoogle Scholar
  41. 41.
    Trevathan E, Murphy CC, Yeargin-Allsopp M. Prevalence and descriptive epidemiology of Lennox-Gastaut syndrome among Atlanta children. Epilepsia. 1997;38:1283–8.PubMedCrossRefGoogle Scholar
  42. 42.
    Bourgeois BF, Douglass LM, Sankar R. Lennox-Gastaut syndrome: a consensus approach to differential diagnosis. Epilepsia. 2014;55(Suppl 4):4–9.PubMedCrossRefGoogle Scholar
  43. 43.
    Ferlazzo E, Nikanorova M, Italiano D, Bureau M, Dravet C, Calarese T, et al. Lennox-Gastaut syndrome in adulthood: clinical and EEG features. Epilepsy Res. 2010;89(2–3):271–7.PubMedCrossRefGoogle Scholar
  44. 44.
    Kerr M, Kluger G, Philip S. Evolution and management of Lennox-Gastaut syndrome through adolescence and into adulthood: are seizures always the primary issue? Epileptic Disord. 2011;13(Suppl 1):S15–26.PubMedGoogle Scholar
  45. 45.
    Doose H. Myoclonic-astatic epilepsy. Epilepsy Res Suppl. 1992;6:163–8.PubMedGoogle Scholar
  46. 46.
    Guerrini R, Aicardi J. Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). J Clin Neurophysiol. 2003;20(6):449–61.PubMedCrossRefGoogle Scholar
  47. 47.
    Kilaru S, Bergqvist AGC. Current treatment of myoclonic astatic epilepsy: clinical experience at the Children’s Hospital of Philadelphia. Epilepsia. 2007;48(9):1703–7.PubMedCrossRefGoogle Scholar
  48. 48.
    Oguni H, Fukuyama Y, Tanaka T, Hayashi K, Funatsuka M, Sakauchi M, et al. Myoclonic-astatic epilepsy of early childhood—clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome. Brain and Development. 2001;23(7):757–64.PubMedCrossRefGoogle Scholar
  49. 49.
    Chan EM, Andrade DM, Franceschetti S, Minassian B. Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B. Adv Neurol. 2005;95:47–57.PubMedGoogle Scholar
  50. 50.
    Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol. 2005;4(4):239–48.PubMedCrossRefGoogle Scholar
  51. 51.
    Girard JM, Turnbull J, Ramachandran N, Minassian BA. Progressive myoclonus epilepsy. Handb Clin Neurol. 2013;113:1731–6.PubMedCrossRefGoogle Scholar
  52. 52.
    Franceschetti S, Michelucci R, Canafoglia L, Striano P, Gambardella A, Magaudda A, et al. Collaborative LICE study group on PMEs. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology. 2014;82(5):405–11.PubMedPubMedCentralCrossRefGoogle Scholar
  53. 53.
    Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, et al. Clinical and genetic findings in 26 Italian patients with Lafora disease. Epilepsia. 2006;47(3):640–3.PubMedCrossRefGoogle Scholar
  54. 54.
    Hyppönen J, Äikiä M, Joensuu T, Julkunen P, Danner N, Koskenkorva P, et al. Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study. Neurology. 2015;84(15):1529–36.PubMedCrossRefGoogle Scholar
  55. 55.
    Bindoff LA, Engelsen BA. Mitochondrial diseases and epilepsy. Epilepsia. 2012;53(Suppl 4):92–7.PubMedCrossRefGoogle Scholar
  56. 56.
    Nita DA, Mole SE, Minassian BA. Neuronal ceroid lipofuscinoses. Epileptic Disord. 2016;18(Suppl 2):73–88.PubMedGoogle Scholar
  57. 57.
    Franceschetti S, Canafoglia L. Sialidoses. Epileptic Disord. 2016;18(Suppl 2):89–93.PubMedGoogle Scholar
  58. 58.
    Landau WM, Kleffner FR. Syndrome of acquired aphasia with convulsive disorder in children. Neurology. 1957;7:523–30.PubMedCrossRefGoogle Scholar
  59. 59.
    Caraballo RH, Cejas N, Chamorro N, Kaltenmeier MC, Fortini S, Soprano AM. Landau-Kleffner syndrome: a study of 29 patients. Seizure. 2014;23(2):98–104.PubMedCrossRefGoogle Scholar
  60. 60.
    Stefanatos G. Changing perspectives on Landau-Kleffner syndrome. Clin Neuropsychol. 2011;25(6):963–88.PubMedCrossRefGoogle Scholar
  61. 61.
    Massa R, de Saint-Martin A, Hirsch E, Marescaux C, Motte J, Seegmuller C, et al. Landau–Kleffner syndrome: sleep EEG characteristics at onset. Clin Neurophysiol. 2000;111(Suppl 2):S87–93.PubMedCrossRefGoogle Scholar
  62. 62.
    Robinson RO, Baird G, Robinson G, Simonoff E. Landau–Kleffner syndrome: course and correlates with outcome. Dev Med Child Neurol. 2001;43:243–7.PubMedCrossRefGoogle Scholar
  63. 63.
    Rotenberg J, Pearl PL. Landau–Kleffner syndrome. Arch Neurol. 2003;60:1019–21.PubMedCrossRefGoogle Scholar
  64. 64.
    Scheltens-de Boer M. Guidelines for EEG in encephalopathy related to ESES/CSWS in children. Epilepsia. 2009;50(Suppl 7):13–7.PubMedCrossRefGoogle Scholar
  65. 65.
    Tassinari CA, Rubboli G, Volpi L, Meletti S, d’Orsi G, Franca M, et al. Encephalopathy with electrical status epilepticus during slow sleep or ESES syndrome including the acquired aplasia. Clin Neurophysiol. 2000;111(Suppl 2):S94–S102.PubMedCrossRefGoogle Scholar
  66. 66.
    Scholtes FB, Hendriks MP, Renier WO. Cognitive deterioration and electrical status epilepticus during slow sleep. Epilepsy Behav. 2005;6:167–73.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Human Neurosciences, Neurophysiopathology - Epilepsy Centre (C.I.M.S.)Sapienza University of RomeRomeItaly
  2. 2.Department of Human Neurosciences, Epilepsy Centre (C.I.M.S.)Sapienza University of RomeRomeItaly

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