Personalized Psychiatry and Neurology

Advanced search

Clinical and genetic characteristics of juvenile myoclonic epilepsy

Full Text:


Juvenile myoclonic epilepsy (JME) is reported as a clinically and genetically heterogeneous disease with a high risk of inheritance. The aim of the study was to establish phenotype features and genetic risk factors for juvenile myoclonic epilepsy to advance existing approaches of prevention, treatment, and observation of patients with JME. Methods: anamnestic; clinical; neurophysiological (EEG); neuroradiological (MRI), neuropsychological; laboratory (DNA-diagnostics). JME starts with absences more frequently in females as compared to males (32.0% vs. 15.4%), and with GTCS and myoclonic in males as compared to females (46.2% and 36.5% vs. 36.0% and 31.2%, respectively). The 1st phenotype of JME was more frequently encountered in male individuals in comparison with female ones (55.8% vs. 34.7%), and the 2nd phenotype was more frequently encountered in female individuals in comparison with male ones (16.9% vs. 5.8%). Homozygous carriage of the T allele of the GJD2 gene (rs3743123) was associated with the development of JME in the study population, OR = 2.66 (95% CI 1.24 to 5.74). 41.5% of patients with JME have a slow metabolizer pharmacogenetic status, which is a risk factor for pseudo-pharmacoresistance and the development of adverse drug reactions.

About the Authors

O. S. Shilkina
V.F. Voino-Yasenetsky Krasnoyarsk State Medical University
Russian Federation

Olga S. Shilkina

660022 Krasnoyarsk

S. N. Zobova
V.F. Voino-Yasenetsky Krasnoyarsk State Medical University
Russian Federation

Svetlana N. Zobova

660022 Krasnoyarsk

E. A. Domoratskaya
V.F. Voino-Yasenetsky Krasnoyarsk State Medical University
Russian Federation

Ekaterina A. Domoratskaya

660022 Krasnoyarsk

D. V. Dmitrenko
V.F. Voino-Yasenetsky Krasnoyarsk State Medical University
Russian Federation

Diana V. Dmitrenko

660022 Krasnoyarsk


1. Karlov V.A., Freidkova N.V. Juvenile myoclonic epilepsy. In: Epilepsy in Children and Adult Women and Men. Ed. by V.A. Karlov. M.: Medicine, 2010; pp. 244-8.

2. Karlov V.A. Epilepsy in Children and Adults, Women and Men: Guidance for Physicians. - M.: Medicine, 2010; 720 p.

3. Mukhin K.Y. Juvenile myoclonic epilepsy (Jantz syndrome). In: Idiopathic forms of epilepsy: systematics, diagnostics, therapy. Ed. by K.Y. Mukhin, A.S. Petrukhin. M.: Art-Business-Center, 2000; pp. 120-35.

4. Petrukhin A.S., Mukhin K.U., Kalinina L.V., Pylaeva O.A. Lamictal: poly- and monotherapy of epilepsy. Psychiatry and psychopharmacotherapy. 2004; appendix 1:20-26.

5. Petrukhin A.S., Kalinina L.V., Anpilogova I.E. Clinical and epidemiological characteristics of epilepsy in children living in the Tula region. Pediatrics. Speransky's Journal. 2004; 83(6):101-103.

6. Scheffer I.E., Berkovic S., Capovilla G., Connolly M.B., French J., Guilhoto L., Hirsch E., Jain S., Mathern G.W., Moshé S.L., Nordli D.R., Perucca E., Tomson T., Wiebe S., Zhang Y.H., Zuberi S.M. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017 Apr;58(4):512-521. doi: 10.1111/epi.13709. Epub 2017 Mar 8.

7. Mironov M.B. Risk factors and relapse rate in patients with juvenile forms of idiopathic generalized epilepsy. PhD dissertation. М., 2005; 119 p.

8. Mironov M.B., Mukhin K.Y., Petrukhin A.S., Kholin A.A. Control of treatment efficacy of patients with juvenile forms of idiopathic generalized epilepsy and "pseudoremission" state. Journal of Neurol Psychiatr 2005;105(8):24-8.

9. Mukhin K.Y., Mironov M.B., Glukhova L.Y. Clinical and electroencephalographic changes in juvenile myoclonic epilepsy. Russian journal of pediatric neurology. 2014; 3:30-35.

10. Belousova E. D. Genetics of epilepsy: why and how to examine children with epilepsy. Neurology, neuropsychiatry, psychosomatics. 2014; 6(1S):4-8.

11. Delgado-Escueta A.V., Koeleman B.P., Bailey J.N., et al. The quest for juvenile myoclonic epilepsy genes. Epilepsy Behav. 2013;28(1):52-57.

12. Delgado-Escueta A.V. Advances in genetics of juvenile myoclonic epilepsies. Epilepsy Curr. 2007; 7(3): 61–67.

13. Greenberg D.A., Stewart W.C. How should we be searching for genes for common epilepsy? A critique and a prescription. Epilepsia. 2012 Sep;53 Suppl 4:72-80. doi: 10.1111/j.1528-1167.2012.03616.x. Review.

14. Website Online Mendelian Inheritance in Man (OMIM);

15. Martínez-Juárez I.E., Alonso M.E., Medina M.T., et al. Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up. Brain. 2006;129(5):1269-1280

16. Nasyrova R.F., Sivakova N.A., Lipatova L.V., et al. Biological markers of efficacy and safety of antiepileptic drugs: pharmacogenetics and pharmacokinetics. Siberian Medical Review. 2017; (103): 17-25.

17. Nordli D.R. Idiopathic generalized epilepsies officially recognized by the international anti-epilepsy league. International Journal of Neurology. 2008; 5: 121-135.

18. Nurmukhametova S.R., Magzhanov R.V. Clinical and epidemiological characteristics of epilepsy in Sterlitamak. Medical Vestnik of Bashkortostan. 2011;6(4):115.

19. Halasz P., Janszky J., Barcs G., Szucs A. Generalised paroxysmal fast activity (GPFA) is not always a sign of malignant epileptic encephalopathy. Seizure 2004;13:270–6

20. Cavalleri G. Haplotype mapping in epilepsy genetics and pharmacogenetics.: University College London; 2013.

21. Grünewald R.A., Chroni E., Panayiotopoulos C.P. Delayed diagnosis of juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry 1992 Jun; 55(6): 497–499. PMCID: PMC1014908.

22. O’Muircheartaigh J., Vollmar C., Barker G.J., et al. Focal structural changes and cognitive dysfunction in juvenile myoclonic epilepsy. Neurology 2011;76:34–40.

23. Pal D.K., Durner M., Klotz I., et al. Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy. Brain Dev. 2006;28:92–98

24. Pal D.K., Greenberg D.A. Major susceptibility genes for common idiopathic epilepsies: ELP4 in rolandic epilepsy and BRD2 in juvenile myoclonic epilepsy. In: Jasper's Basic Mechanisms of the Epilepsies. 4th ed; Ed. by Noebels J.L., Avoli M., Rogawski M.A., Olsen R.W., Delgado-Escueta A.V. Bethesda (MD): National Center for Biotechnology Information (US); 2012

25. Hantus S. Idiopathic generalized epilepsy syndromes of childhood and adolescence. In: Treatment of epilepsy, 5th ed; Ed. by Wyllie E. 2011:260–5.

26. Lorenz S., Taylor K.P., Gehrmann A., et al. Association of BRD2 polymorphisms with photoparoxysmal response. Neurosci Lett 2006;400:135–139.

27. Hempelmann A., Heils A., Sander T. Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. Epilepsy Res 2006;71:223–228.

28. Herpin, T. H. Des asces incomplets de l'epilepsie. J Balliere et Fils. 1867 p.

29. Bartolini E., Pesaresi I., Fabbri S., Cecchi P., Giorgi F.S., Sartucci F., Bonuccelli U., Cosottini M. Abnormal response to photic stimulation in juvenile myoclonic epilepsy: an EEG-fMRI study. Epilepsia. 2014 Jul;55(7):1038-47. doi: 10.1111/epi.12634. Epub 2014 May 23.

30. Holmes M.D., Brown M., Tucker D.M. Are ‘‘generalized’’ seizures truly generalized? Evidence of localized mesial frontal and frontopolar discharges in absence. Epilepsia 2004; 45:1568–1579.

31. Inoue M., Duysens J., Vossen J.M., Coenen A.M. Thalamic multipleunit activity underlying spike-wave discharges in anesthetized rats. Brain Res 1993; 612:35–40.

32. Jallon P., Loiseau P., Loiseau J. Newly diagnosed unprovokedepileptic seizures: presentation at diagnosis in CAROLE study. Coordination Active du Reseau Observatoire Longitudinal de l’Epilepsie. Epilepsia 2001;42:464–75.

33. Clemens B., Puskás S., Besenyei M., Spisák T., Opposits G., Hollódy K., Fogarasi A., Fekete I., Emri M. Neurophysiology of juvenile myoclonic epilepsy: EEG-based network and graph analysis of the interictal and immediate preictal states. Epilepsy Res. 2013 Oct;106(3):357-69. doi: 10.1016/j.eplepsyres.2013.06.017. Epub 2013 Jul 22.

34. Cohen B.H., Naviaux R.K. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Methods 2010; 5: 364–73. Doi: 10.1016/j.ymeth.2010.05.008. PMID: 20558295

35. Delgado-Escueta A.V., Enrile-Bacsal F. Juvenile myoclonic epilepsy of Janz. Neurology 1984;34:285–94.

36. Delgado-Escueta A.V., Greenberg D.A., et al. Mapping the gene for juvenile myoclonic epilepsy. Epilepsia 1989; 30: 8-18.

37. Desai D., Desai S., Jani T. Juvenile Myoclonic Epilepsy in Rural Western India: Not Yet a Benign Syndrome. Epilepsy Res Treat. 2016:1435150. PMID: 27818795

38. Betting L.E., Mory S.B., Lopes-Cendes I., Li M., Guerreiro M.M., Cendes F. EEG features in idiopathic generalized epilepsy: clues to diagnosis. Epilepsia 2006;47:523–8.

39. Jallon, P. Epidemiology of idiopathic generalized epilepsies. Epilepsia 2005;46(9):10-4.


For citations:

Shilkina O.S., Zobova S.N., Domoratskaya E.A., Dmitrenko D.V. Clinical and genetic characteristics of juvenile myoclonic epilepsy. Personalized Psychiatry and Neurology. 2021;1(2):95-105.

Views: 285

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.

ISSN 2712-9179 (Online)