Etiology and Pathology of Epilepsies: Overview

  • Sanjay M. Sisodiya
Reference work entry

Knowing the cause and biology of a disease offers the optimum chance of devising the best treatment and prevention strategies. There are many examples across human diseases, with some remarkable public health achievements. For the epilepsies, with their wide heterogeneity and burdensome nature, there is much yet to be learnt about causation, even in the modern era. The value of such knowledge is unquestionable: the example of a better understanding of Dravet syndrome, for example, is shown in the daily management of this condition that is now informed by facts about its causation and pathophysiology. With about one in three people with epilepsy continuing to suffer seizures despite the range of antiepileptic drugs available, there is a pressing need to better understand causation and disease mechanisms to generate more effective treatments, not just those that control seizures, but also those that can halt and reverse the underlying disease processes. Moreover, for most people with...


  1. Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshé SL, Nordli D, Plouin P, Scheffer IE (2010) Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia epublished: doi: 10.1111/j.1528–1167.2010.02522.xGoogle Scholar
  2. Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 41(2):160–162CrossRefPubMedGoogle Scholar
  3. Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperavičiūte D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kälviäinen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB (2010) Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet doi:10.1016/j.ajhg.2010.03.018Google Scholar

Copyright information

© Springer-Verlag London Limited 2010

Authors and Affiliations

  • Sanjay M. Sisodiya
    • 1
  1. 1.Institute of NeurologyUniversity College LondonLondonUK

Personalised recommendations