Skip to main content

Genetic Generalized Epilepsies

  • Chapter
Clinical Electroencephalography

Abstract

The purpose of this chapter is to delineate the clinical and EEG features of the genetic generalized epilepsies, which are a heterogeneous group of conditions, linked by strict criteria. Both the EEG and seizure characteristics may be helpful in the clinical management of patients and avoid unuseful therapies and diagnostic procedures.

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

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 149.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 199.99
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

Similar content being viewed by others

References

  1. Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):512–21. https://doi.org/10.1111/epi.13709.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Ottman R. Genetic epidemiology of epilepsy. Epidemiol Rev. 1997;19:120–8.

    Article  CAS  Google Scholar 

  3. Kobow K, Blümcke I. Epigenetics in epilepsy. Neurosci Lett. 2018;667:40–6. https://doi.org/10.1016/j.neulet.2017.01.012.

    Article  CAS  PubMed  Google Scholar 

  4. Scheffer IE, Mefford HC. Epilepsy: beyond the single nucleotide variant in epilepsy genetics. Nat Rev Neurol. 2014;10(9):490–1. https://doi.org/10.1038/nrneurol.2014.146.

    Article  CAS  PubMed  Google Scholar 

  5. Mullen SA, Berkovic S, ILAE Genetics Commission. Genetic generalized epilepsies. Epilepsia. 2018;59:1148–53. https://doi.org/10.1111/epi.14042.

    Article  PubMed  Google Scholar 

  6. Nuyts S, D’Souza W, Bowden SC, Vogrin SJ. Structural brain abnormalities in genetic generalized epilepsies: a systematic review and meta-analysis. Epilepsia. 2017;58(12):2025–37. https://doi.org/10.1111/epi.13928.

    Article  CAS  PubMed  Google Scholar 

  7. Gloor P. Generalized cortico-reticular epilepsies. Some considerations on the pathophysiology of generalized bilaterally synchronous spike and wave discharge. Epilepsia. 1968;9(3):249–63.

    Article  CAS  Google Scholar 

  8. Polack PO, Mahon S, Chavez M, Charpier S. Inactivation of the somatosensory cortex prevents paroxysmal oscillations in cortical and related thalamic neurons in a genetic model of absence epilepsy. Cereb Cortex. 2009;19(9):2078–91. https://doi.org/10.1093/cercor/bhn237.

    Article  PubMed  Google Scholar 

  9. Meeren H, van Luijtelaar G, Lopes da Silva F, Coenen A. Evolving concepts on the pathophysiology of absence seizures: the cortical focus theory. Arch Neurol. 2005;62(3):371–6.

    Article  Google Scholar 

  10. Wolf P, Beniczky S. Understanding ictogenesis in generalized epilepsies. Expert Rev Neurother. 2014;14(7):787–98. https://doi.org/10.1586/14737175.2014.925803.

    Article  CAS  PubMed  Google Scholar 

  11. Norden AD, Blumenfeld H. The role of subcortical structures in human epilepsy. Epilepsy Behav. 2002;3(3):219–31.

    Article  Google Scholar 

  12. Luo C, Li Q, Xia Y, Lei X, Xue K, Yao Z, et al. Resting state basal ganglia network in idiopathic generalized epilepsy. Hum Brain Mapp. 2012;33(6):1279–94. https://doi.org/10.1002/hbm.21286.

    Article  PubMed  Google Scholar 

  13. Roger J, Bureau M, Ferrer-Vidal LO, Daurella LO, Saltarelli A, Genton P. Clinical and electroencephalographic characteristics of idiopathic generalized epilepsies. In: Malafosse A, Genton P, Hirsch E, et al., editors. Idiopathic generalized epilepsies: clinical, experimental and genetic aspects. London: John Libbey; 1994.

    Google Scholar 

  14. Kasteleijn-Nolst Trenite DGA, Hirsch E, Takahashi T. Photosensitivity, visual induced seizures and epileptic syndromes. In: Roger J, Bureau M, et al., editors. Epileptic syndromes in infancy, childhood and adolescence. London: John Libbey; 2002.

    Google Scholar 

  15. Koutroumanidis M, Arzimanoglou A, Caraballo R, Goyal S, Kaminska A, Laoprasert P, et al. The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 1). Epileptic Disord. 2017;19(3):233–98. https://doi.org/10.1684/epd.2017.0935.

    Article  PubMed  Google Scholar 

  16. Loiseau P. Absence epilepsy. In: Roger J, Dravet C, Bureau M, Dreifuss FE, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence. London: John Libbey; 1992.

    Google Scholar 

  17. Penry JK, Porter RJ, Dreifuss RE. Simultaneous recording of absence seizures with video tape and electroencephalography. A study of 374 seizures in 48 patients. Brain. 1975;98(3):427–40.

    Article  CAS  Google Scholar 

  18. Trinka E, Baumgartner S, Unterberger I, Unterrainer J, Luef G, Haberlandt E, Bauer G. Long-term prognosis for childhood and juvenile absence epilepsy. J Neurol. 2004;251(10):1235–41.

    Article  Google Scholar 

  19. Grosso S, Galimberti D, Vezzosi P, Farnetani M, Di Bartolo RM, Bazzotti S, et al. Childhood absence epilepsy: evolution and prognostic factors. Epilepsia. 2005;46(11):1796–801.

    Article  Google Scholar 

  20. Callenbach PM, Bouma PA, Geerts AT, Arts WF, Stroink H, Peeters EA, et al. Long-term outcome of childhood absence epilepsy: Dutch Study of Epilepsy in Childhood. Epilepsy Res. 2009;83(2–3):249–56. https://doi.org/10.1016/j.eplepsyres.2008.11.011.

    Article  PubMed  Google Scholar 

  21. Cobb W. EEG interpretation in clinical medicine. Part B. In: Remond A, editor. Handbook of electroencephalography and clinical neurophysiology. Amsterdam: Elsevier; 1976.

    Google Scholar 

  22. Loiseau P, Duche B. Childhood absence epilepsy. In: Duncan JS, Panayiotopoulos CP, editors. Typical absences and related epileptic syndromes. Edinburgh: Churchill Livingstone; 1995.

    Google Scholar 

  23. Dalla Bernardina B, Sgrò V, Fejerman N. Epilepsy with centro-temporal spikes and related syndromes in:. “Epileptic syndromes in infancy, childhood and adolescence”, Roger J, Bureau M, Dravet CH, Genton P, Tassinari CA, Wolf P (John Libbey, London, 2002.

    Google Scholar 

  24. Hirsch E, Blanc-Platier A, Marescaux C. What are the relevant criteria for a better classification of epileptic syndromes with typical absences? In: Malafosse A, Genton P, Hirsch E, Marescaux C, Broglin D, Bernasconi R, editors. Idiopathic generalized epilepsies: clinical experimental and genetic aspects. London: John Libbey; 1994.

    Google Scholar 

  25. Panayiotopoulos CP. Absence epilepsies. In: Engel J, Pedley TA, editors. Epilepsy. A comprehensive textbook. Philadelphia: Lippincott-Raven; 1997.

    Google Scholar 

  26. Gelisse P, Wolf P, Inoue Y. Juvenile absence epilepsy. In: Bureau M, Genton P, Dravet C, Delgado-Escueta A, Tassinari CA, Thomas P, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence. 5th ed. London: John Libbey Eurotext; 2012.

    Google Scholar 

  27. Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, et al. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia. 2004;45(5):467–78.

    Article  Google Scholar 

  28. Wolf P, Inoue Y. Therapeutic response of absence seizures in patients of an epilepsy clinic for adolescents and adults. J Neurol. 1984;231:225–9.

    Article  CAS  Google Scholar 

  29. Wolf P, Inoue Y. Juvenile absence epilepsy. In: Roger J, Bureau M, Dravet CH, et al., editors. Epileptic syndromes in infancy, childhood and adolescence. London: John Libbey; 2002.

    Google Scholar 

  30. Panayiotoupolos CP, Obeid T, Waheed G. Differentiation of typical absence seizures in epileptic syndromes. Brain. 1989;112:1039–56.

    Article  Google Scholar 

  31. Sgrò V, Canevini MP, Lastrico A, Guidolin L, Vignoli A, Saltarelli A, et al. Assenze tipiche: analisi elettroclinica di 37 pazienti con epilessia-assenza dell’infanzia o dell’adolescenza. Aggiornamenti in Epilettologia. Boll Lega It Epil. 1995;91/92:97–9.

    Google Scholar 

  32. Thomas P, Valton L, Genton P. Absence and myoclonic status epilepticus precipitated by antiepileptic drugs in idiopathic generalized epilepsy. Brain. 2006;129(Pt 5):1281–92.

    Article  Google Scholar 

  33. Janz D, Christian W. Impulsiv petit mal. Dtsch Z Nervenheilk. 1957;176:346–86.

    Article  Google Scholar 

  34. Yacubian EM. Juvenile myoclonic epilepsy: challenges on its 60th anniversary. Seizure. 2017;44:48–52. https://doi.org/10.1016/j.seizure.2016.09.005.

    Article  PubMed  Google Scholar 

  35. Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM. The quest for juvenile myoclonic epilepsy genes. Epilepsy Behav. 2013;28(Suppl 1):S52–7. https://doi.org/10.1016/j.yebeh.2012.06.033.. Review

    Article  PubMed  Google Scholar 

  36. Thomas P, Genton P, Gelisse P, Medina M, Serafini A. Juvenile myoclonic epilepsy. In: Bureau M, Genton P, Dravet C, Delgado-Escueta A, Tassinari CA, Thomas P, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence. London: John Libbey; 2012.

    Google Scholar 

  37. Janz D, Cristian W. Impulsive Petit Mal (traduction anglaise par P Genton). In: Malafosse A, Genton P, Hirsch E, Marescaux C, Broglin D, Bernasconi R, editors. Idiopathic generalized epilepsies: clinical, experimental and genetic aspects. London: John Libbey; 1994.

    Google Scholar 

  38. Canevini MP, Mai R, Di Marco C, Bertin C, Minotti L, Pontrelli V, et al. Juvenile myoclonic epilepsy of Janz: clinical observations in 60 patients. Seizure. 1992;1(4):291–8.

    Article  CAS  Google Scholar 

  39. Striano S, Capovilla G, Sofia V, Romeo A, Rubboli G, Striano P, et al. Eyelid myoclonia with absences (Jeavons syndrome): a well-defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions? Epilepsia. 2009;50(Suppl 5):15–9. https://doi.org/10.1111/j.1528-1167.2009.02114.x.

    Article  PubMed  Google Scholar 

  40. Kasteleijn-Nolst Trenité DG, Schmitz B, Janz D, Delgado-Escueta AV, Thomas P, Hirsch E, et al. Consensus on diagnosis and management of JME: from founder’s observations to current trends. Epilepsy Behav. 2013;28(Suppl 1):S87–90. https://doi.org/10.1016/j.yebeh.2012.11.051.

    Article  PubMed  Google Scholar 

  41. Inoue Y, Seino M, Kubota H, Yamakaku K, Tanaka M, Yagi K. Epilepsy with praxis-induced seizures. In: Wolf P, editor. Epileptic seizures and syndromes. London: John Libbey; 1994.

    Google Scholar 

  42. Vollmar C, O’Muircheartaigh J, Barker GJ, Symms MR, Thompson P, Kumari V, et al. Motor system hyperconnectivity in juvenile myoclonic epilepsy: a cognitive functional magnetic resonance imaging study. Brain. 2011;134.(Pt 6:1710–9. https://doi.org/10.1093/brain/awr098.

    Article  PubMed  PubMed Central  Google Scholar 

  43. Park KI, Lee SK, Chu K, Lee JJ, Kim DW, Nam H. The value of video-EEG monitoring to diagnose juvenile myoclonic epilepsy. Seizure. 2009;18(2):94–9. https://doi.org/10.1016/j.seizure.2008.07.001.

    Article  PubMed  Google Scholar 

  44. Canevini MP, Sgrò V, Canger R. Le assenze nell’epilessia mioclonica giovanile. Boll Lega It Epil. 1995;91/92:39–42.

    Google Scholar 

  45. Panzica F, Rubboli G, Franceschetti S, Avanzini G, Meletti S, Pozzi A, et al. Cortical myoclonus in Janz syndrome. Clin Neurophysiol. 2001;112(10):1803–9.

    Article  CAS  Google Scholar 

  46. Lombroso CT. Consistent EEG focalities detected in subjects with primary generalized epilepsies monitored for two decades. Epilepsia. 1997;38:797–812.

    Article  CAS  Google Scholar 

  47. Janz D, Wolf P. Epilepsy with Grand Mal on awakening. In: Engel J, Pedley TA, editors. Epilepsy a comprehensive textbook. Philadelphia: Lippincott-Raven; 1997.

    Google Scholar 

  48. Unterberger I, Trinka E, Luef G, Bauer G. Idiopathic generalized epilepsies with pure grand mal: clinical data and genetics. Epilepsy Res. 2001;44(1):19–25.

    Article  CAS  Google Scholar 

  49. Camfield P, Camfield C. Idiopathic generalized epilepsy with generalized tonic-clonic seizures (IGE-GTC): a population-based cohort with >20 year follow up for medical and social outcome. Epilepsy Behav. 2010;18(1–2):61–3. https://doi.org/10.1016/j.yebeh.2010.02.014.

    Article  PubMed  Google Scholar 

  50. Janz D. Epilepsy with grand mal on awakening and sleep-waking cycle. Clin Neurophysiol. 2000;111(Suppl 2):S103–10.

    Article  Google Scholar 

  51. Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, 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(4):676–85. https://doi.org/10.1111/j.1528-1167.2010.02522.x.

    Article  PubMed  Google Scholar 

  52. Fisher RS, Cross JH, French JA, Higurashi N, Hirsch E, Jansen FE, et al. Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):522–30. https://doi.org/10.1111/epi.13670.

    Article  PubMed  Google Scholar 

  53. Sadleir LG, Vears D, Regan B, Redshaw N, Bleasel A, Scheffer IE. Family studies of individuals with eyelid myoclonia with absences. Epilepsia. 2012;53(12):2141–8. https://doi.org/10.1111/j.1528-1167.2012.03692.x.

    Article  PubMed  Google Scholar 

  54. Tenney JR, Glauser TA. The current state of absence epilepsy: can we have your attention? Epilepsy Curr. 2013;13(3):135–40. https://doi.org/10.5698/1535-7511-13.3.135.

    Article  PubMed  PubMed Central  Google Scholar 

  55. Vaudano AE, Ruggieri A, Tondelli M, Avanzini P, Benuzzi F, Gessaroli G, et al. The visual system in eyelid myoclonia with absences. Ann Neurol. 2014;76(3):412–27. https://doi.org/10.1002/ana.24236.

    Article  PubMed  Google Scholar 

  56. Giannakodimos S, Panayiotopoulos CP. Eyelid myoclonia with absences in adults: a clinical and video-EEG study. Epilepsia. 1996;37:36–44.

    Article  CAS  Google Scholar 

  57. Tomson T, Marson A, Boon P, Canevini MP, Covanis A, Gaily E, Kälviäinen R, Trinka E. Valproate in the treatment of epilepsy in girls and women of childbearing potential. Epilepsia. 2015;56(7):1006–19. https://doi.org/10.1111/epi.13021.

    Article  CAS  PubMed  Google Scholar 

  58. Bourgeois BF. Chronic management of seizures in the syndromes of idiopathic generalized epilepsy. Epilepsia. 2003;44(Suppl 2):27–32.

    Article  CAS  Google Scholar 

  59. Marinas A, Villanueva V, Giráldez BG, Molins A, Salas-Puig J, Serratosa JM. Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy. Epileptic Disord. 2009;11(1):61–6. https://doi.org/10.1684/epd.2009.0239.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Aglaia Vignoli .

Editor information

Editors and Affiliations

1 Electronic Supplementary Material

In the video, the girl has an initial brief eyelid flickering; she remains completely unresponsive from the beginning to the terminal phase of the discharge (MP4 10078 kb)

Video recording of a child with CAE: the ictal discharge is related to a complete loss of awareness and automatisms, which end at the end of the seizure (MP4 9758 kb)

JME ictal recording of a 9-year-old boy at morning awakening. Several generalized PSW discharges associated with bilateral jerks are recorded (MP4 6914 kb)

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Switzerland AG

About this chapter

Cite this chapter

Vignoli, A., Canevini, M.P. (2019). Genetic Generalized Epilepsies. In: Mecarelli, O. (eds) Clinical Electroencephalography. Springer, Cham. https://doi.org/10.1007/978-3-030-04573-9_27

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-04573-9_27

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-04572-2

  • Online ISBN: 978-3-030-04573-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics