Preview

Personalized Psychiatry and Neurology

Advanced search

Juvenile myoclonic epilepsy: current state of the problem

https://doi.org/10.52667/2712-9179-2021-1-2-2-20

Full Text:

Abstract

Due to the high prevalence of the disease, its genetic and clinical heterogeneity, the need for lifelong therapy and the emergence of new views on the pathogenesis and course of JME, it is necessary to provide primary care physicians (general practitioners, district therapists, neurologists) with up-to-date systematized information about the most common form of genetic generalized epilepsy (Herpin-Janz syndrome). JME is a genetically determined disease of the brain, accompanied by a triad of seizures (absences, myoclonia, generalized tonic-clonic seizures), and developing mainly in adolescence and young age. In recent years, monogenic and multifactorial forms of JME have been identified, but questions about the genetics of JME are far from being resolved. JME is characterized by the preservation of intelligence, life expectancy with adequate therapy does not differ from the average population, but the frequency of failures of pharmaco-induced remission is high when taking anticonvulsants is canceled. This explains the need for lifelong pharmacotherapy, individual selection of anticonvulsants. About 30% of patients with JME have non-psychotic mental disorders, disorders of the sleep and wake cycle, which in turn leads to an aggravation of epileptic seizures mainly in the first half of the day. This review presents an analysis of full-text publications in Russian and English over the past five years in the databases eLibrary, PubMed, Web of Science, OxfordPress, Springer, and Clinicalkeys. In addition, the review includes earlier publications of historical significance.

About the Authors

N. A. Shnayder
V. M. Bekhterev National Medical Research Centre for Psychiatry and Neurology, Centre of Personalized Psychiatry and Neurology Prof. V. F. Voino-Yasenetsky Krasnoyarsk State Medical University, Department of Physical and Rehabilitation Medicine with a Postgraduate Course; Prof. V. F. Voino-Yasenetsky Krasnoyarsk State Medical University, Department of Physical and Rehabilitation Medicine with a Postgraduate Course Centre of Collective Usage “Molecular and Cell Technologies”
Russian Federation

Natalia A. Shnayder

Saint Petersburg 192019, 

Krasnoyarsk 660022



K. V. Petrov
Prof. V. F. Voino-Yasenetsky Krasnoyarsk State Medical University, Department of Physical and Rehabilitation Medicine with a Postgraduate Course Centre of Collective Usage “Molecular and Cell Technologies”
Russian Federation

Kirill V. Petrov

Krasnoyarsk 660022



References

1. Epilepsy. World Health Organization. 20 June 2019. At available: https://www.who.int/news-room/fact-sheets/detail/epilepsy#:~:text=Globally%2C%20an%20estimated%20five%20million,as%20139%20per%20100%20000.;https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(18)30454-X/fulltext

2. Karlov V.A.; Freidkova N.V. Juvenile myoclonic epilepsy. In: Karlov V.A. (ed.) Epilepsy in children and adult women and men. М.: Meditsina; 2010

3. Beghi E., Giussani G., Nichols E., Abd-Allah F., Abdela J., Abdelalim A., Abraha H.N., Adib M.G., Agrawal S., Alahdab F., Awasthi A., Ayele Y. Global, regional, and national burden of epilepsy, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016. Lancet Neurol. 2019; 18: 357–375. doi: 10.1016/S1474-4422(18)30454-X

4. Shnayder N.A., Dmitrenko D.V., Isaeva N.V., Shilkina O.S. Medical examination of adult patients with epilepsy : training manual. Krasnoyarsk: KrasGMU. 2018; pp. 63

5. Moskaleva P.V., Shilkina O.S., Shnayder N.A. Personalized approach in the management of juvenile myoclonic epilepsy. Pharmacogenetics and pharmacogenomics. 2017; 2: 20-22

6. Artyukhov I.P., Shilkina O.S., Shnayder N.A., Dmitrenko D.V., Bochanova E.N., Babina I.S. Paradigms in management of juvenile myoclonic epilepsy. Archiv Euromedica. 2016; 6(2): 2-7

7. Shnayder N.A., Shilkina O.S., Artyukhov I.P., Dyuzhakova A.V., Nasyrova R.F., Lipatova L.V., Bochanova E.N. Balance between the efficiency and safety of anticonvulsants as a basis of rehabilitation for children with juvenile myoclonic epilepsy. Pharmateca. 2018; 1: 8-14. doi: 10.18565/pharmateca.2018.1.8-14

8. Shnayder N.A., Shapovalova E.A., Dmitrenko D.V., Sadikova A.V., Shapovalova L.P. Epidemiology of children epilepsy. Siberian Medical Review. 2012; 74(2): 44-50

9. Shnayder N.A., Shilkina O.S., Dmitrenko D. V. New view on electroencephalographic pattern features of juvenile myoclonic epilepsy. Medicine alphabet. 2018; 23(2): 6-12

10. Arntsen V., Sand T., Syvertsen M.R., Brodtkorb E. Prolonged epileptiform EEG runs are associated with persistent seizures in juvenile myoclonic epilepsy. Epilepsy Res. 2017; 134: 26-32. doi: 10.1016/j.eplepsyres.2017.05.003

11. Shilkina O.S., Shnayder N.A. Epidemiology of juvenile myoclonic epilepsy. Neurology, Neuropsychiatry, Psychosomatics. 2017; 9(1): 26-31. doi: 10.14412/2074-2711-2017-1S-26-31

12. Karlov V. A., Zolovkina V. S. Problems of juvenile myoclonic epilepsy. A view through the prism of time. Journal of Neurology and Psychiatry S.S. Korsakov. 2017; 117(9): 24-33. doi: 10.17116/jnevro20171179224-33

13. Volkov I.V., Volkova O.K. Juvenile myoclonic epilepsy. Update. Epilepsy and Paroxysmal Conditions. 2020; 12(1): 41-49. doi: 10.17749/2077-8333.2020.12.1S.S41-S49

14. Sapronova M.R., Shnayder N.A., Shilkina O.S. Clinical case of pseudoremission of juvenile myoclonic epilepsy (Janz syndrome). Practical medicine. 2017; 102(1): 165-168

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

16. Genton P., Thomas P., Kasteleijn-Nolst Trenité D.G., Medina M.T., Salas-Puig J. Clinical aspects of juvenile myoclonic epilepsy. Epilepsy Behav. 2013; 1: 8-14. doi: 10.1016/j.yebeh.2012.10.034

17. Fisher R.S., van Emde Boas W., Blume W., Elger C., Genton P., Lee P., Engel Jr. J. Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE). Epilepsia. 2005; 46: 470–472. doi: 10.1111/j.0013-9580.2005.66104.x

18. 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; 58(4): 512–521. doi: 10.1111/epi.13709

19. Shnayder N.A., Shilkina O.S., Petrov K.V., Chernykh I.A., Dyuzhakova A.V. Clinical and genetic heterogenity of juvenile myoclonic epilepsy. Epilepsy and Paroxysmal Conditions. 2016; 2: 20-36. doi: 10.17749/2077-8333.2016.8.2.020-036

20. Shilkina O.S., Shnayder N.A., Zobova S.N., Dmitrenko D.V., Moskaleva P.V. Association of the carriage of BRD2 rs206787 and rs516535 and GJD2 rs3743123 polymorphisms with juvenile myoclonic epilepsy in Caucasian patients of Siberia. Neurology, Neuropsychiatry, Psychosomatics. 2019; 11(4): 61–67. doi: 10.14412/2074-2711-2019-4-61-67

21. Asadi-Pooya A.A., Hashemzehi Z., Emami M. Epidemiology and clinical manifestations of juvenile myoclonic epilepsy (JME) in Iran. Neurol Sci. 2015; 36(5) :713-716. doi: 10.1007/s10072-014-2021-0

22. Paulus F.M., Krach S., Blanke M. Fronto-insula network activity explains emotional dys-functions in juvenile myoclonic epilepsy: combined evidence from pupillometry and fMRI. Cortex. 2015; 65: 219–231. doi: 10.1016/j.cortex.2015.01.018

23. Dong L., Luo C., Zhu Y. Complex discharge-affecting networks in juvenile myoclonic epilepsy: a simultaneous EEG-fMRI study. Hum. Brain Mapp. 2016; 37: 3515–3529. doi: 10.1002/hbm.23256

24. Wang Y., Berglund I.S., Uppman M., Tie-Qiang Lia T.-Q. Juvenile myoclonic epilepsy has hyper dynamic functional connectivity in the dorsolateral frontal cortex. Neuroimage Clin. 2019; 21: 101604. doi: 10.1016/j.nicl.2018.11.014

25. Woermann F.G., Free S.L., Koepp M.J., Sisodiya S.M., Duncan J.S. Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI. Brain. 1999; 122: 2101–2107. doi:10.1093/brain/122.11.2101

26. Vollmar C., O'Muircheartaigh J., Symms M.R. Altered microstructural connectivity in juvenile myoclonic epilepsy: the missing link. Neurology. 2012; 78(20): 1555–1559. doi: 10.1212/WNL.0b013e3182563b44

27. Kim J.H. Grey and white matter alterations in juvenile myoclonic epilepsy: a compre-hensive review. J. Epilepsy Res. 2017; 7: 77– 88. doi: 10.14581/jer.17013

28. Gong J., Chang X., Jiang S., Klugah-Brown B., Tan S., Yao D. Microstructural alterations of white matter in juvenile myoclonic epilepsy. Epilepsy Res. 2017; 135: 1–8. doi: 10.1016/j.eplepsyres.2017.04.002

29. Whelan C.D., Altmann A., Botía J.A., Jahanshad N., Hibar D.P., Absil J. Structural brain abnormalities in the common epilepsies assessed in a world wide ENIGMA study. Brain. 2018; 141: 391–408. doi: 10.1093/brain/awx341

30. Syvertsen M., Hellum M.K., Hansen G., Edland A., Nakken K.O., Selmer K.K., Koht J. Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway. Epilepsia. 2017; 58(1): 105-112. doi: 10.1111/epi.13613

31. Yacubian E.M. Juvenile myoclonic epilepsy: Challenges on its 60th anniversary. Seizure. 2017; 44: 48-52. doi: 10.1016/j.seizure.2016.09.005

32. Berg A.T., Berkovic S.F., Brodie M.J., Buchhalter J., Cross J.H., van Emde Boas W., Engel J., French J., Glauser T.A., Mathern G.W., Moshé S.L., Nordli D., Plouin P., Scheffer I.E. 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): 676–685. doi: 10.1111/j.1528-1167.2010.02522.x

33. Kasteleijn-Nolst T.D.G.A., Schmitz B., Janz D., Antonio V Delgado-Escueta A.V., Thomas P., Hirsch E., Lerche H., Camfield C., Baykan B., Feucht M., Martínez-Juárez I.E., M Duron R.M., Medina M.T., Rubboli G., Jerney J., Hermann B., Yacubian E., Koutroumanidis M., Stephani U., Salas-Puig J., Reed R.C., Woermann F., Wandschneider B., Bureau M., Gambardella A., Koepp M.J., Gelisse P., Gurses C., Crespel A., Nguyen-Michel V.H., Ferlazzo E., Grisar T., Helbig I., Koeleman B.P.C., Striano P., Trimble M., Buono R., Cossette P., Represa A., Dravet C., Serafini A., Savic- Berglund I., Sisodiya S.M., Yamakawa K., Genton P. Consensus on diagnosis and management of JME: From founder's observations to current trends. Epilepsy Behav. 2013; 28(1): 87-90. doi: 10.1016/j.yebeh.2012.11.051

34. Atakli D., Senadim S., Baslo S.A., Güveli B.T., Daryan M.D., Sari H. Misdiagnosis in JME: Still a problem after 17 years? Seizure. 2016; 36: 27-30. doi: 10.1016/j.seizure.2016.01.015

35. Albuja A.C., Murphy P.B. Absence seizure. StatPearls [Internet]. 2020; 21.Treasure Island (FL): StatPearls Publishing. 2021. PMID: 29763042

36. Moskaleva P.V., Shilkina O.S., Shnayder N.A., Artyukhov I.P., Dmitrenko D.V., Yuryeva E.A. Advances in the management of sleep disorders in juvenile myoclonic epilepsy. International Journal of Biomedicine. 2018; 8(2): 108-114 doi: 10.21103/Article8(2)_RA3

37. Xu L., Guo D., Liu Y.Y., Qiao D.D., Ye J.Y., Xue R. Juvenile myoclonic epilepsy and sleep. Epilepsy Behav. 2018; 80: 326-330. doi: 10.1016/j.yebeh.2017.11.008

38. Aydin-Özemir Z., Matur Z., Baykan B., Bilgic B., Tekturk P., Bebek N., Gurses C., Hanagasi H., Oge A.E. Analysis of the tremor in juvenile myoclonic epilepsy. Epilepsy Res. 2016; 128: 140-148. doi: 10.1016/j.eplepsyres.2016.10.010

39. Amrutkar C., Riel-Romero R.M. Juvenile myoclonic epilepsy. In: StatPearls [Internet]. 2020. Treasure Island (FL): StatPearls Publishing. PMID: 30725794

40. Mayer T.A., Schroeder F., May T.W., Wolf P.T. Perioral reflex myoclonias: a controlled study in patients with JME and focal epilepsies. Epilepsia. 2006; 47(6): 1059-1067. doi: 10.1111/j.1528-1167.2006.00575.x

41. Wolf P. Reflex epileptic mechanisms in humans: Lessons about natural ictogenesis. Epilepsy Behav. 2017; 71: 118-123. doi: 10.1016/j.yebeh.2015.01.009

42. Petrov K.V., Shnayder N.A., Dmitrenko D.V., Narodova E.A., Nasyrova R.F. Neurophysiological methods of photosensitivity identification in juvenile myoclonic epilepsy (review). Medical Alphabet. 2020; (32): 45-52. doi: 10.33667/2078-5631-2020-32-45-52

43. Uchida C.G.P., de Carvalho K.C., Guaranha M.S.B., Guilhoto L.M.F.F., de Araújo Filho G.M., Yacubian E.M.T. Prognosis of juvenile myoclonic epilepsy with eye-closure sensitivity. Seizure. 2018; 62: 17-25. doi: 10.1016/j.seizure.2018.09.006

44. Martins da Silva A., Leal B. Photosensitivity and epilepsy: Current concepts and perspectives-A narrative review. Seizure. 2017; 50: 209-218. doi: 10.1016/j.seizure.2017.04.001

45. Shilkina O.S., Petrov K.V., Dyuzhakova A.V., Marueva N.A., Shnayder N.A. Frequency of juvenile myoclonic epilepsy phenotypes in Siberia. Journal of Cognitive Neuroscience. 2016; 6: 32-36

46. Baykan B., Wolf P. Juvenile myoclonic epilepsy as a spectrum disorder: A focused review. Seizure. 2017; 49: 36-41. doi: 10.1016/j.seizure.2017.05.011

47. Shnayder N.A., Shilkina O.S., Petrov K.V., Dyuzhakova A.V., Marueva N.A. Frequency of clinical phenotypes of juvenile myoclonic epilepsy: pilot study in Siberian federal district. Epilepsy and paroxysmal conditions. 2016; 3: 27-33. doi: 10.17749/2077-8333.2016.8.3.027-033

48. Moskaleva P.V., Shilkina O.S., Artyuhov I.P., Strotskaya I.G., Dmitrenko D.V., Shnayder N.A. Nonpsychotic psychiatric disorders in juvenile myoclonic epilepsy. International Journal of Biomedicine. 2017; 7(2): 85-90. doi: 10.21103/Article7(2)_RA1

49. Moskaleva P.V., Shilkina O.S., Shnayder N.A. Individual neuropsychological characteristics in patients with juvenile myoclonic epilepsy. Psychology in Russia: State of the Art. 2018; 11(2): 42-54. doi: 10.11621/pir.2018.0204

50. Paiva M.L., Lima E.M., Siqueira I.B., Rzezak P., Koike C., Moschetta S.P., Vincentiis S., Alessi R., Khafif T.C., Mendoza M., Valente K.D. Seizure control and anxiety: Which factor plays a major role in social adjustment in patients with Juvenile Myoclonic Epilepsy? Seizure. 2020; 80: 234-239. doi: 10.1016/j.seizure.2020.06.033

51. Shilkina O.S., Artyuhov I.P., Moskaleva P.V., Strotskaya I.G., Shnayder N.A. Cognitive disorders in juvenile myoclonic epilepsy. International Journal of Biomedicine. 2017; 7(1): 9-14. doi: 10.21103/Article7(1)_RA1

52. Ascoli M., Mastroianni G., Gasparini S., Striano P., Cianci V., Neri S., Bova V., Mammì A., Gambardella A., Labate A., Aguglia U., Ferlazzo E. Diagnostic and therapeutic approach to drug-resistant juvenile myoclonic epilepsy. Expert Rev Neurother. 2021; 25: 1-9. doi: 10.1080/14737175.2021.1931126

53. Brodie M.J. Modern management of juvenile myoclonic epilepsy. Expert Rev Neurother. 2016; 16(6): 681-688. doi: 10.1080/14737175.2016.1179113

54. Guaranha M.S., Filho G.M., Lin K., Guilhoto L.M., Caboclo L.O., Yacubian E.M. Prognosis of juvenile myoclonic epilepsy is related to endophenotypes. Seizure. 2011; 20(1): 42-48. doi: 10.1016/j.seizure.2010.10.004

55. Chen Y., Chen J., Chen X., Wang R., Zeng J., Wang F., Miao J. Predictors of outcome in juvenile myoclonic epilepsy. Risk Manag Healthc Policy. 2020; 13: 609-613. doi: 10.2147/RMHP.S244725

56. Petrov K.V., Petrova M.M., Shnayder N.A., Nasyrova R. F. Mechanisms of Action and Safety of Exercise in Patients with Epilepsy (Review). Bulletin of Rehabilitation Medicine. 2020; 6 (100): 81–91. doi: 10.38025/2078-1962-2020-100-6-81-91

57. Petrov K.V., Petrova M.M., Shnayder N.A., Nasyrova R. F. Sport and juvenile myoclonic epilepsy (review). Child and adolescent rehabilitation. 2021; 3(34): 17-26.

58. Shawahna R., Abdelhaq I. Important knowledge items with regard to the benefits of exercise for patients with epilepsy: Findings of a qualitative study from Palestine. Epilepsy Behav. 2020; 108:107099. doi: 10.1016/j.yebeh.2020.107099

59. Carrizosa-Moog J., Ladino L.D., Benjumea-Cuartas V., Orozco-Hernández J.P., Castrillón-Velilla D.M., Rizvi S., Francisco Téllez-Zenteno J.F. Epilepsy, Physical Activity and Sports: A Narrative Review. Can J Neurol Sci. 2018; 45(6): 624-632. doi: 10.1017/cjn.2018.340

60. Van den Bongard F., Hamer H.M., Sassen R., Reinsberger C. Sport and Physical Activity in Epilepsy. Dtsch Arztebl Int. 2020; 117(1-2): 1-6. doi: 10.3238/arztebl.2020.0001

61. Švestková O., Sládková P., Kotková K. Application of International Classification of Functioning, Disability and Health (ICF), Functional Health and Disability. Cent Eur J Public Health. 2016; 24(1): 83-85. doi: 10.21101/cejph.a4140

62. Chernyakhovskiy O.B., Kochubey V.V., Salamadina G.E. Awareness of doctors exercise therapy on the International classification of functioning, disability and health (ICF). Bulletin of Rehabilitation Medicine. 2019; 4(92): 76-79.

63. Bishop G.A. Defining the ICF. Nurs Homes. 1971; 20(3): 20-21. PMID: 5205369

64. Badley E.M., Lee J., Wood P.H. Impairment, disability, and the ICIDH (International Classification of Impairments, Disabilities, and Handicaps) model. II: The nature of the underlying condition and patterns of impairment. Int Rehabil Med. 1987; 8(3): 118- 124. doi: 10.3109/03790798709166193

65. World Health Organization. International classification of functioning, disability and health: ICF. Geneva: World Health Organization, 2001

66. Capovilla G., Kaufman K.R., Perucca E., Moshé S.L., Arida R.M. Epilepsy, seizures, physical exercise, and sports: a report from the ILAE Task Force on sports and epilepsy. Epilepsia. 2016; 57(1): 6-12. doi: 10.1111/epi.13261

67. Pimentel J., Tojal R., Morgado J. Epilepsy and physical exercise. Seizure. 2015; 25: 87-94. doi: 10.1016/j.seizure.2014.09.015

68. Howard G.M., Radloff M., Sevier T.L. Epilepsy and sports participation. Curr Sports Med Rep. 2004; 3: 15–19. doi: 10.1249/00149619-200402000-00004

69. Fountain N.B., May A.C. Epilepsy and athletics. Clin Sports Med. 2003; 22: 605–606. doi: 10.1016/s0278-5919(02)00106-0

70. ILAE Commission Report. Restrictions for children with epilepsy. Commission of Pediatrics of the ILAE. International League Against Epilepsy. Epilepsia. 1997; 38: 1054–1056. doi: 10.1111/j.1528-1157.1997.tb01493.x

71. Rice S.G., American Academy of Pediatrics Council on Sports Medicine and Fitness. Medical conditions affecting sports participation. Pediatrics. 2008; 121: 841–848. doi: 10.1542/peds.2008-0080

72. Dimberg E.L., Burns T.M. Management of common neurologic conditions in sports. Clin Sports Med. 2005; 24: 637–662. doi: 10.1016/j.csm.2005.04.002

73. Decree of the Government of the Russian Federation No. 1604 of 29.12.2014 "On the lists of medical contraindications, medical indications and medical restrictions to driving a vehicle". Access by: http://base.garant.ru/70836098/

74. Decree of the Government of the Russian Federation No. 143 of 19.02.2015 "On approval of the list of diseases in the presence of which possession of weapons is contraindicated, and on amendments to the Rules for the Circulation of civil and service weapons and ammunition for them on the territory of the Russian Federation". Access by: http://pravo.gov.ru/proxy/ips/?docbody=&nd=102368090&elsearch


For citation:


Shnayder N.A., Petrov K.V. Juvenile myoclonic epilepsy: current state of the problem. Personalized Psychiatry and Neurology. 2021;1(2):2-20. https://doi.org/10.52667/2712-9179-2021-1-2-2-20

Views: 99


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


ISSN 2712-9179 (Online)