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Evolution of genetically determined generalized epilepsies

https://doi.org/10.17749/2077-8333.2019.11.2.187-194

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Abstract

This article analyzes the available literature regarding the clinical manifestations, genetic determinants, prognosis and evolution of inherited generalized epilepsies. We describe the typical EEG characteristics and their correlations with negative prognostic factors. We also review studies on absence epilepsy of childhood, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures. Factors indicating a more severe course and outcome of the disease, and those indicating a more favorable development have been analyzed. Among those, age of the seizure onset, type of initial therapy, time passed before starting therapy and time before a response was seen, cognitive status, combination of seizures, abnormal discharges in EEG, and neurological deficit. The analysis shows that factors correlating with poor prognosis include the presence of more than one type of seizures, insufficient response to initial therapy, necessity of polytherapy and concomitant cognitive impairment.

About the Authors

E. A. Morozova
Kazan State Medical Academy - branch of the Federal state budgetary educational institution of additional professional education “Russian medical Academy of continuous professional education” of the Ministry of health of the Russian Federation
Russian Federation

Elena A. Morozova - MD, Professor at the Department of Pediatric Neurology.

11 Mushtari Str., Kazan 420061



F. I. Gusyakov
Children’s City Hospital № 8
Russian Federation

Filipp I. Gusyakov- MD, Neurologist.

11 Galeeva Str., Kazan 420061



References

1. Morozova E.A., Gusyakov F.I. Evolution of genetically determined generalized epilepsies. Epilepsia i paroksizmal'nye sostoania / Epilepsy and Paroxysmal Conditions. 2019; 11 (2): 187-194 (in Russian). DOI: 10.17749/2077-8333.2019.11.2.187-194.

2. Thurman D.J., Beghi E., Begley C.E. et al. Standards for epidemiologic studies and surveillance of epilepsy. Epilepsia. 2011; 52: 2-26. DOI: 10.1111/j.1528-1167.2011.03121.x.

3. Camfield P., Camfield C. Incidence, prevalence and aetiology of seizures and epilepsy in children. Epileptic Disorders. 2015; 17: 117-23. DOI: 10.1684/epd.2015.0736.

4. Cossette P. Channelopathies and juvenile myoclonic epilepsy. Epilepsia. 2010; 51: 30-2. DOI: 10.1111/j.1528-1167.2009.02439.x.

5. Heron S.E., Scheffer I.E., Berkovic S.F. et al. Channelopathies in Idiopathic Epilepsy. Neurotherapeutics 2007; 4: 295. DOI: 1016/j.nurt.2007.01.009.

6. Kang J.Q. Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies. Epilepsy Res. 2017 Nov; 137: 9-18. DOI: 10.1016/j.eplepsyres.2017.08.013.

7. Panayiotopoulos C.P. The Epilepsies: Seizures, Syndromes and Management. Oxfordshire (UK): Bladon Medical Publishing; 2005. Chapter 10, Idiopathic Generalised Epilepsies.

8. Nabbout R., Scheffer I.E. Genetics of idiopathic epilepsies. Handb Clin Neurol. 2013; 111: 567-78. DOI: 10.1016/B978-0-444-52891-9.00059-2.

9. Caraballo R.H., Dalla Bernardina B. Idiopathic generalized epilepsies. Handb Clin Neurol. 2013; 111: 579-89. DOI: 10.1016/B978-0-444-52891-9.00060-9.

10. King M.A., Newton M.R., Jackson G.D. et al. Epileptology of the first-seizure presentation: a clinical, electroencephalographic, and magnetic resonance imaging study of 300 consecutive patients. Lancet. 1998 Sep 26; 352 (9133): 1007-11. DOI: 10.1016/S0140-6736(98)03543-0.

11. Hamiwka L.D., Singh N., Niosi J. et al. Diagnostic inaccuracy in children referred with “first seizure”: role for a first seizure clinic. Epilepsia. 2007 Jun; 48 (6): 1062-6. DOI: 10.1111/j.1528-1167.2007.01018.x.

12. Leach J.P., Stephen L.J., Salveta C. et al. Which electroencephalography (EEG) for epilepsy? The relative usefulness of different EEG protocols in patients with possible epilepsy. J Neurol Neurosurg Psychiatry. 2006; 77 (9): 1040-2. DOI: 10.1136/jnnp.2005.084871.

13. Crino P.B. Gene Expression, Genetics, and Genomics in Epilepsy: Some Answers, More Questions. Epilepsia. 2007; 48: 42-50. DOI: 10.1111/j.1528-1167.2007.01066.x.

14. Helbig I. Genetic Causes of Generalized Epilepsies. Semin Neurol. 2015. Jun; 35 (3): 288-92. DOI: 10.1055/s-0035-1552922.

15. Gallentine W.B., Mikati M.A. Genetic generalized epilepsies. J Clin Neurophysiol. 2012 Oct; 29 (5): 408-19. DOI: 10.1097/WNP.0b013e31826bd92a.

16. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia. 1989 Jul-Aug; 30 (4): 389-99. DOI: 10.1111/j.1528-1157.1989.tb05316 .x.

17. Engel J. Jr. 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. DOI:10.1046/j.1528-1157.2001.10401.x.

18. Engel J Jr. ILAE classification of epilepsy syndromes. Epilepsy Res. 2006 Aug; 70 Suppl 1: S5-10. Epub 2006 Jul 5. DOI: 10.1016/j.eplepsyres.2005.11.014.

19. Baca C.B., Barry F., Vickrey B.G. et al. Social outcomes of young adults with childhood-onset epilepsy: A case-sibling-control study. Epilepsia. 2017 May; 58 (5): 781-791. DOI: 10.1111/epi.13726.

20. Bansal D., Azad C., Gudala K. et al. Predictors of health-related quality of life in childhood epilepsy and comparison with healthy children: findings from an Indian study. Turk J Med Sci. 2017 Apr 18; 47 (2): 490-8. DOI: 10.3906/sag-1511-148.

21. Bartolomei F., Roger J., Bureau M. et al. Prognostic factors of childhood and juvenile absence epilepsies. Eur Neurol. 1997; 37 (3). DOI: 10.1159/000117429.

22. Rauchenzauner M., Hagn C., Walch R. et al. Quality of Life and Fitness in Children and Adolescents with Epilepsy (EpiFit). Neuropediatrics. 2017 Jun; 48 (3): 161-5. DOI: 10.1055/s-0037-1599236.

23. Salas-Puig X., Iniesta M., Abraira L. et al. Accidental injuries in patients with generalized tonic-clonic seizures. A multicenter, observational, cross-sectional study (QUIN-GTC study). Epilepsy Behav. 2019 Jan 15; 92: 135-9. DOI: 10.1016/j.yebeh.2018.10.043.

24. Yeni K., Tulek Z., Simsek O.F. et al. Relationships between knowledge, attitudes, stigma, anxiety and depression, and quality of life in epilepsy: A structural equation modeling. Epilepsy Behav. 2018 Aug; 85: 212-7. DOI: 10.1016/j.yebeh.2018.06.019.

25. Gasparini S., Ferlazzo E., Leonardi C.G. et al. The Natural History of Epilepsy in 163 Untreated Patients: Looking for “Oligoepilepsy”. PLoS ONE. 2016; 11 (9). DOI: 10.1371/journal.pone.0161722.

26. Seneviratne U., Cook M., D’Souza W. The prognosis of idiopathic generalized epilepsy. Epilepsia. 2012; 53: 2079-90. DOI: 10.1111/j.1528-1167.2012.03723.x.

27. Cockerell O.C., Johnson A.L., Sander J.W. et al. Prognosis of epilepsy: a review and further analysis of the first nine years of the British National General Practice Study of Epilepsy, a prospective population-based study. Epilepsia. 1997 Jan; 38 (1): 31-46. DOI: 10.1111/j.1528-1157.1997.tb01075.x.

28. Del Felice A., Beghi E., Boero G. et al. Early versus late remission in a cohort of patients with newly diagnosed epilepsy. Epilepsia. 2010 Jan; 51 (1): 37-42. DOI: 10.1111/j.1528-1167.2009.02141.x.

29. Kharazmi E., Peltola M., Fallah M. et al. Idiopathic generalized epilepsies: a follow-up study in a single-center. Acta Neurol Scand. 2010 Sep; 122 (3): 196-201. DOI: 10.1111/j.1600-0404.2009.01292.x.

30. Nicolson A., Appleton R.E., Chadwick D.W. et al. The relationship between treatment with valproate, lamotrigine, and topiramate and the prognosis of the idiopathic generalised epilepsies. J Neurol Neurosurg Psychiatry. 2004 Jan; 75 (1): 75-9. PMID: 14707312.

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

32. Gomez-Ibaflez A., McLachlan R.S., Mirsattari S. M. et al. Prognostic factors in patients with refractory idiopathic generalized epilepsy. Epilepsy res. 2017 Feb; 130: 69-73. DOI: 10.1016/j.eplepsyres.2017.01.011.

33. Wirrell E., Camfield C., Camfield P. et al. Prognostic significance of failure of the initial antiepileptic drug in children with absence epilepsy. Epilepsia. 2001 Jun; 42 (6): 760-3. DOI: 10.1046/j.1528-1157.2001.02401.x.

34. Lerman Sagie T., Watemberg N., Kramer U. et al. Absence Seizures Aggravated by Valproic Acid. Epilepsia. 2001; 42: 941-3. DOI: 10.1046/j .1528-1157.2001.042007941.x.

35. Janz D. Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy). Acta Neurol Scand. 1985 Nov; 72 (5): 449-59. DOI: 10.1111/j.1600-0404.1985.tb00900.x.

36. Delgado-Escueta A.V., Enrile-Bacsal F. Juvenile myoclonic epilepsy of Janz. Neurology. 1984 Mar; 34 (3): 285-94. DOI: 10.1212/wnl.34.3.285.

37. Panayiotopoulos C.P., Obeid T., Tahan A.R. Juvenile Myoclonic Epilepsy: A 5 Year Prospective Study. Epilepsia. 1994; 35: 285-96. DOI: 10.1111/j.1528-1157.1994.tb02432.x.

38. Camfield C., Camfield P. Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study. Neurology. 2009 Sep 29; 73 (13): 1041-5. DOI: 10.1212/WNL.0b013e3181b9c86f.

39. Geithner J., Schneider F., Wang Z. et al. Predictors for long-term seizure outcome in juvenile myoclonic epilepsy: 25-63 years of follow-up. Epilepsia. 2012 Aug; 53 (8): 1379-86. DOI: 10.1111/j.1528-1167.2012.03526.X.

40. Senf P, Schmitz B., Holtkamp M. et al. Prognosis of juvenile myoclonic epilepsy 45 years after onset: seizure outcome and predictors. Neurology. 2013. Dec 10; 81 (24): 2128-33. DOI: 10.1212/01.wnl.0000437303.36064.f8.

41. Baykan B., Altindag E.A., Bebek N. et al. Myoclonic seizures subside in the fourth decade in juvenile myoclonic epilepsy. Neurology. 2008 May 27; 70 (22 Pt 2): 2123-9. DOI: 10.1212/01.wnl.0000313148.34629.1d.

42. Asadi-Pooya A.A., Hashemzehi Z., Emami M. Predictors of seizure control in patients with juvenile myoclonic epilepsy (JME). Seizure. 2014 Nov; 23 (10): 889-91. DOI: 10.1016/j.seizure.2014.08.004.

43. Gelisse P., Genton P., Thomas P. et al. Clinical factors of drug resistance in juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry. 2001 Feb; 70 (2): 240-3. DOI: 10.1136/jnnp.70.2.240.

44. Trinka E., Kienpointner G., Unterberger I. et al. Psychiatric comorbidity in juvenile myoclonic epilepsy. Epilepsia. 2006. Dec; 47 (12): 2086-91. DOI: 10.1111/j.1528-1167.2006.00828.X.

45. Devinsky O., Gershengorn J., Brown E. et al. Frontal functions in juvenile myoclonic epilepsy. Neuropsychiatry Neuropsychol Behav Neurol. 1997 Oct; 10 (4): 243-6. PMID: 9359121.

46. Berg A.T., Baca C.B., Rychlik K. et al. Determinants of social outcomes in adults with childhood-onset epilepsy. Pediatrics. 2016 Apr; 137 (4). DOI: 10.1542/peds.2015-3944.

47. Martinovic Z. Adjunctive behavioural treatment in adolescents and young adults with juvenile myoclonic epilepsy. Seizure. 2001 Jan; 10 (1): 42-7. DOI: 10.1053/seiz.2000.0479.

48. Engel J.Jr. Report of the ILAE classification core group. Epilepsia. 2006, Sep; 47 (9): 1558-68. DOI: 10.1111/j.1528-1167.2006.00215.x.

49. Janz D. Epilepsy with grand mal on awakening and sleep-waking Эcycle. Clin. Neurophysiol. 2000 Sep; 111 Suppl 2: 103-10. DOI: 10.1016/S1388-2457(00)00409-0.

50. Genton P., Gonzalez Sanchez M. et al. Epilepsy with Grand Mal on Awakening in epileptic syndromes in infancy. In: Roger J., Bureau M., Dravet P., Genton P., Tassinari C.A., editors. Epileptic syndromes in infancy, childhood and adolescence. 4th edition. London: John Libbey Eurotext LTD. 2005; 389-94.

51. Sillanpaa M., Schmidt D. Natural history of treated childhood-onset epilepsy: Prospective, long-term population-based study. Brain: a journal of neurology. 2006; 129: 617-24. DOI: 10.1093/brain/awh726.

52. 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 May; 18 (1-2): 61-3. DOI: 10.1016/j.yebeh.2010.02.014.


For citation:


Morozova E.A., Gusyakov F.I. Evolution of genetically determined generalized epilepsies. Epilepsy and paroxysmal conditions. 2019;11(2):187-194. (In Russ.) https://doi.org/10.17749/2077-8333.2019.11.2.187-194

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ISSN 2311-4088 (Online)