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V.M. BEKHTEREV REVIEW OF PSYCHIATRY AND MEDICAL PSYCHOLOGY

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Heterogenity of childhood absence epilepsies

https://doi.org/10.31363/2313-7053-2021-56-3-32-44

Abstract

Summary. In connection with the growing volume of scientific data on the genetic problems of generalized epilepsy in recent decades, the ambiguity of the therapeutic tactics and prognosis of this cohort of patients has become obvious based solely on the phenotypic characteristics of the patient. It is known that epilepsies with similar phenotypes show a different genetic nature, different pathogenesis of the development of epileptogenesis and response to therapy. The outcomes also differ, both in terms of seizure control and in terms of cognitive functions.

The article presents an overview of the factors that must be taken into account when manifesting childhood absentee epilepsy: the child’s gender, types of seizures, cognitive profile, results of electroencephalography and neuroimaging. Attention is paid to the genes that determine the development of these forms of epilepsy in children.

About the Authors

F. I. Gusyakov
Kazan State Medical Academy - branch of the “Russian medical Academy of continuous professional education” of the Ministry of health of the Russian Federation
Russian Federation

Filipp I.Gusyakov

Kazan



M. V. Belousov
Kazan State Medical Academy - branch of the “Russian medical Academy of continuous professional education” of the Ministry of health of the Russian Federation
Russian Federation

Marina V. Belousova

Kazan



E. A. Morozova
Kazan State Medical Academy - branch of the “Russian medical Academy of continuous professional education” of the Ministry of health of the Russian Federation
Russian Federation

Elene A. Morozova

Kazan



D. G. Gazizova
Autonomous Non-profit Organization of additional and professional Education «Family Educational Center «Kazanysh» («Achievement»)
Russian Federation

Dilyara G. Gazizova

Kazan



References

1. Belousova M.V., Merkulova V.A., Gavrikova I.Yu. Neyropsikhologicheskaya diagnostika i korrektsiya v detskom vozraste. Uchebno-metodicheskoye posobiye. Kazan’: «Otechestvo». 2012. (In Russ.).

2. Morozova YeA, Gusyakov FI. Evolution of genetically determined generalized epilepsies. Epilepsiya i paroksizmal’nyye sostoyaniya. 2019; 11(2):187-194. (In Russ.). DOI: 10.17749 / 2077-8333.2019.11.2.187-194.

3. Adie W.J. Pyknolepsy; A form of Epilepsy in Children, with a good Prognosis. Proc R Soc Med. 1924; 17(Neurol Sect):19-25.

4. Agathonikou A., Giannakodimos S., Koutroumanidis M. et al. Idiopathic Generalised Epilepsies in Adults with Onset of Typical Absences before the Age of 10 Years. Epilepsia. 1997; 38(Suppl 3):213

5. Agostinelli S., Accorsi P., Beccaria F. et al. SINP (Società Italiana Neurologia Pediatrica) Collaborative Working Group. Clinical dissection of early onset absence epilepsy in children and prognostic implications. Epilepsia. 2013; 54(10):1761-1770. doi: 10.1111/epi.12341

6. Aicardi J. Typical absences during the first two years of life. In: Duncan J, Panayiotopoulos CP, editors. Absences and related epileptic syndromes. London: Churchill Livingstone. 1995.

7. Asadi-Pooya A.A., Emami M., Nikseresht A. Early-onset versus typical childhood absence epilepsy; clinical and electrographic characteristics. Seizure. 2012; 21(4):273-275. doi: 10.1016/j.seizure.2012.01.012

8. Auvin S., Chhun S., Berquin P. et al. Aggravation of absence seizure related to levetiracetam. Eur J Paediatr Neurol. 2011; 15(6):508-511. doi: 10.1016/j.ejpn.2011.05.007

9. Baykan B., Gokyigit A., Gurses C. et al. Recurrent absence status epilepticus: clinical and EEG characteristics. Seizure 2002; 11:310–319.

10. Belcastro V., Caraballo R.H., Romeo A. et al. Early-onset absence epilepsy aggravated by valproic acid: a video-EEG report. Epileptic Disord. 2013;15(4):440-443. doi: 10.1684/epd.2013.0616

11. Bosak M., Pawełczak D., Słowik A. Status epilepticus in patients with genetic (idiopathic) generalized epilepsy. Neuropsychiatr Dis Treat. 2019; 15:1585-1592. doi: 10.2147/NDT.S209084

12. Brigo F, Trinka E, Lattanzi S, Bragazzi NL, Nardone R, Martini M. A brief history of typical ab sence seizures — Petit mal revisited. Epilepsy Behav. 2018; 80:346-353. doi: 10.1016/j.yebeh.2018.01.007. PMID: 29402631.

13. Broicher T., Seidenbecher T., Meuth P. et al. Tcurrent related effects of antiepileptic drugs and a Ca2+ channel antagonist on thalamic relay and local circuit interneurons in a rat model of absence epilepsy. Neuropharmacology. 2007; 53(3):431-46. doi: 10.1016/j.neuropharm.2007.05.030

14. Cavazzuti G.B., Ferrari F., Galli V. et al. Epilepsy with typical absence seizures with onset during the first year of life. Epilepsia 1989; 30:802–806.

15. Chaix Y., Daquin G., Monteiro F. et al. Absence epilepsy with onset before age three years: a heterogeneous and often severe condition. Epilepsia 2003; 44:944–949.

16. Chen Y., Parker W.D., Wang K. The role of T-type calcium channel genes in absence seizures. Front Neurol. 2014; 5:45. doi:10.3389/fneur.2014.00045

17. Cheng D., Yan X., Gao Z. et al. Neurocognitive Profiles in Childhood Absence Epilepsy. J Child Neurol. 2017; 32(1):46-52. doi: 10.1177/0883073816668465

18. Christensen J., Kjeldsen M.J., Andersen H. et al. Gender differences in epilepsy. Epilepsia. 2005; 46(6):956-960. doi: 10.1111/j.1528-1167.2005.51204.x

19. Cnaan A., Shinnar S., Arya R. et al. Childhood Absence Epilepsy Study Group. Second monotherapy in childhood absence epilepsy. Neurology. 2017; 88(2):182-190. doi: 10.1212/WNL.0000000000003480

20. Coulter D.A., Huguenard J.R., Prince D.A. Characterization of ethosuximide reduction of low-threshold calcium current in thalamic neurons. Ann Neurol. 1989; 25(6):582-593. doi: 10.1002/ana.410250610

21. Cross J.H. Topiramate monotherapy for childhood absence seizures: an open label pilot study. Seizure. 2002;11(6):406-410. doi: 10.1053/seiz.2001.0655

22. Currier R.D., Kooi K.A., Saidman J. Prognosis of pure petit mal: a follow-up study. Neurology. 1963; 13:959–967

23. Darra F., Fontana E., Scaramuzzi E. et al. Typical absence seizures in the first three years of life: electroclinical study of 31 cases. Epilepsia 1996; 37:95.

24. De Marco P. Petit mal epilepsy during early infancy. Clin Electroencephalogr 1980; 11:38–40

25. Dlugos D., Shinnar S., Cnaan A. et al. Pretreatment EEG in childhood absence epilepsy: associations with attention and treatment outcome. Neurology. 2013; 81(2):150-156. doi:10.1212/WNL.0b013e31829a3373

26. Eric L.A. Fonseca Wald, Sylvia Klinkenberg et al. (2019). Cognitive development in absence epilepsy during long-term follow-up. Child Neuropsychology. 2019; 25:1003-1021. DOI: 10.1080/09297049.2019.1614156

27. Everett K., Chioza B., Aicardi J. et al. Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. Epilepsy Res. 2007; 75(2-3):145-153. doi: 10.1016/j.eplepsyres.2007.05.004

28. Farooque P., Goraya J., Valencia I. et al. Earlyonset childhood absence epilepsy: is it a distinct entity? Epileptic Disord. 2011;13(4):411-416. doi: 10.1684/epd.2011.0465

29. Fattore C., Boniver C., Capovilla G. et al. A multicenter, randomized, placebo-controlled trial of levetiracetam in children and adolescents with newly diagnosed absence epilepsy. Epilepsia. 2011; 52(4):802-809. doi: 10.1111/j.1528-1167.2010.02976.x

30. Fong G.C., Shah P.U., Gee M.N. et al. Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispikeslow wave complexes: linkage to chromosome 8q24. Am J Hum Genet. 1998; 63(4):1117-1129. doi: 10.1086/302066

31. Gencpinar P., Kalay Z., Turgut S. et al. Evaluation of Executive Functions in Patients With Childhood Absence Epilepsy. Journal of Child Neurology. 2016; 31(7):824-830. doi:10.1177/0883073815623632

32. Giordano L., Vignoli A., Accorsi P. et al. A clinical and genetic study of 33 new cases with early-onset absence epilepsy. Epilepsy Res. 2011; 95(3):221-226. doi: 10.1016/j.eplepsyres.2011.03.017

33. Giordano L., Vignoli A., Cusmai R. et al. Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study. Epilepsia. 2013; 54:66-69. doi: 10.1111/epi.12311

34. Glauser T.A., Cnaan A., Shinnar S. et al. Childhood Absence Epilepsy Study Group. Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. N Engl J Med. 2010; 362(9):790-799. doi: 10.1056

35. Glauser T.A., Cnaan A., Shinnar S. et al. Childhood Absence Epilepsy Study Team. Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: initial monotherapy outcomes at 12 months. Epilepsia. 2013; 54(1):141-155. doi: 10.1111/epi.12028

36. Glauser T.A., Holland K., O’Brien V.P. et al. Childhood Absence Epilepsy Study Group. Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy. Ann Neurol. 2017; 81(3):444-453. doi: 10.1002/ana.24886

37. Groomes L.B., Pyzik P.L., Turner Z. et al. Do patients with absence epilepsy respond to ketogenic diets? J Child Neurol. 2011; 26(2):160-165. doi: 10.1177/0883073810376443

38. Guilhoto L.M., Manreza M.L., Yacubian E.M. Occipital intermittent rhythmic delta activity in absence epilepsy. Arq Neuropsiquiatr. 2006; 64:193-197.

39. Gullapalli D., Fountain N.B. Clinical correlation of occipital intermittent rhythmic delta activity. J Clin Neurophysiol. 2003; 20:45-41.

40. Haug K., Warnstedt M., Alekov A. et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet. 2003; 33:527–532. https://doi.org/10.1038/ng1121

41. Hedstrom A., Olsson I. Epidemiology of absence epilepsy: EEG findings and their predictive value. Pediatr Neurol. 1991; 7:100-104.

42. Hertoft P. The clinical, electroencephalographic and social prognosis in petit mal epilepsy. Epilepsia. 1963; 4:298–314.

43. Hollowack J., Thurston D.L., O’Leary J.L. Petit mal epilepsy. Pediatrics. 1962; 60:893–901.

44. Kleefuß-Lie A., Friedl W., Cichon S. et al. CLCN2 variants in idiopathic generalized epilepsy. Nat Genet. 2009; 41:954–955. https://doi.org/10.1038/ng0909-954

45. Lerman-Sagie T., Watemberg N., Kramer U. et al. Absence seizures aggravated by valproic acid. Epilepsia. 2001; 42(7):941-943. doi: 10.1046/j.1528-1157.2001.042007941.x

46. Lü J.J., Zhang Y.H., Chen Y.C. et al. T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy. Zhonghua Er Ke Za Zhi. 2005; 43(2):133-136.

47. Maljevic S., Krampfl K., Cobilanschi J. et al. A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol. 2006; 59(6):983-798.

48. Mariani E., Rossi L.N., Vajani S. Interictal paroxysmal EEG abnormalities in childhood absence epilepsy. Seizure. 2011;20(4):299-304. doi: 10.1016/j.seizure.2010.12.014

49. Masur D., Shinnar S., Cnaan A. et al. Childhood Absence Epilepsy Study Group. Pretreatment cognitive deficits and treatment effects on attention in childhood absence epilepsy. Neurology. 2013; 81(18):1572-1580. doi: 10.1212/WNL.0b013e3182a9f3ca

50. Moosa A.N.V. Antiepileptic Drug Treatment of Epilepsy in Children. Continuum (Minneap Minn). 2019; 25(2):381-407. doi: 10.1212/CON.0000000000000712

51. Muhle H.; Von Spiczak S.; Gaus V. et al. Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis. Epilepsy Res. 2010; 89:319–326.

52. Pack A.M. EEG and clinical features of childhood absence predict clinical outcomes. Epilepsy Curr. 2013; 13(6):285-286. doi:10.5698/1535-7597-13.6.285

53. Panayiotopoulos C.P., Ferrie C.D., Koutroumanidis M. et al. Idiopathic generalised epilepsy with phantom absences and absence status in a child. Epileptic Disord. 2001; 3(2):63-66.

54. Piña-Garza J.E., Schwarzman L., Wiegand F. et al. A pilot study of topiramate in childhood absence epilepsy. Acta Neurol Scand. 2011; 123(1):54-59. doi: 10.1111/j.1600-0404.2010.01347.x

55. Robert L. Macdonald, Martin J. Gallagher, Chapter 84 — The Genetic Epilepsies, Editor(s): Roger N. Rosenberg, Juan M. Pascual, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease (Fifth Edition). Academic Press. 2015; 973-998.

56. Rocca W.A., Sharbrough F.W., Hauser W.A. et al. Risk factors for absence seizures: a populationbased case-control study in Rochester, Minnesota. Neurology. 1987; 37:1309–1314.

57. Sadleir L.G., Farrell K., Smith S. et al. Electroclinical features of absence seizures in childhood absence epilepsy. Neurology. 2006; 67(3):413-418. doi: 10.1212/01.wnl.0000228257.60184.82

58. Sander T., Berlin W., Ostapowicz A. et al. Variation of the genes encoding the human glutamate EAAT2, serotonin and dopamine transporters and Susceptibility to idiopathic generalized epilepsy. Epilepsy Research. 2000; 41(1):75-81. DOI: 10.1016/s0920-1211(00)00120-0

59. Seneviratne U, Cook M, D’Souza W. Consistent topography and amplitude symmetry are more typical than morphology of epileptiform discharges in genetic generalized epilepsy. Clin Neurophysiol. 2016; 127(2):1138-1146. doi: 10.1016/j.clinph.2015.08.019

60. Shahar E., Genizi J., Nevo Y. et al. Typical absence epilepsy presenting prior to age of 3 years: an uncommon form of idiopathic generalized epilepsy. Eur J Paediatr Neurol. 2007; 11:346–352.

61. Somerville E.R. Some treatments cause seizure aggravation in idiopathic epilepsies (especially absence epilepsy). Epilepsia. 2009; 50:31-36. doi: 10.1111/j.1528-1167.2009.02233.x

62. Stogmann E., Lichtner P., Baumgartner C. et al. Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes. Neurogenetics. 2006; 7:265–268. https://doi.org/10.1007/s10048-006-0057-x

63. Sugimoto Y., Morita R., Amano K. et al. Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map. Genomics. 2000; 68(3):264-272. doi: 10.1006/geno.2000.6296

64. Tanaka M., Olsen R. W., Medina M. T. et al. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am. J. Hum. Genet. 2008; 82:1249-1261.

65. Trinka E., Baumgartner S., Unterberger I. et al. Long-term prognosis for childhood and juvenile absence epilepsy. J Neurol. 2004;251(10):1235-41. doi: 10.1007/s00415-004-0521-1

66. Tscherter A., David F., Ivanova T. et al. Minimal alterations in T-type calcium channel gating markedly modify physiological firing dynamics. J Physiol. 2011; 589(Pt7):1707-1724. doi: 10.1113/jphysiol.2010.203836

67. Valentin A., Hindocha N., Osei-Lah A. et al. Idiopathic generalized epilepsy with absences: syndrome classification. Epilepsia. 2007; 48(11):2187-2190. doi: 10.1111/j.1528-1167.2007.01226.x

68. Verrotti A., Agostinelli S., Olivieri C. et al. Earlyonset pure absence epilepsy: a distinct epileptic syndrome. Acta Paediatr. 2011; 100(5):647-650. doi: 10.1111/j.1651-2227.2011.02213.x

69. Verrotti A., Olivieri C., Agostinelli S. et al. Long term outcome in children affected by absence epilepsy with onset before the age of three years. Epilepsy Behav. 2011; 20(2):366-369. doi: 10.1016/j.yebeh.2010.12.015

70. Waaler P.E., Blom B.H., Skeidsvoll H. et al. Prevalence, classification, and severity of epilepsy in children in western Norway. Epilepsia. 2000; 41(7):802-810.

71. Wallace R.H.; Marini C.; Petrou S. et al. Mutant GABA A receptor γ2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 2001; 28:49–52.

72. Wheless J.W., Clarke D.F., Carpenter D. Treatment of pediatric epilepsy: expert opinion, 2005. J Child Neurol. 2005; 20:1-56. quiz S59-60. doi: 10.1177/088307380502000101

73. Wilfong A., Schultz R. Zonisamide for absence seizures. Epilepsy Res. 2005; 64(1-2):31-34. doi: 10.1016/j.eplepsyres.2005.02.006

74. Wirrell E., Camfield C., Camfield P. et al. Prognostic significance of failure of the initial antiepileptic drug in children with absence epilepsy. Epilepsia. 2001; 42(6):760-763.


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For citations:


Gusyakov F.I., Belousov M.V., Morozova E.A., Gazizova D.G. Heterogenity of childhood absence epilepsies. V.M. BEKHTEREV REVIEW OF PSYCHIATRY AND MEDICAL PSYCHOLOGY. 2021;55(3):32-44. (In Russ.) https://doi.org/10.31363/2313-7053-2021-56-3-32-44

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