Juvenile Myoclonic Epilepsy. Update
Abstract
Juvenile myoclonic epilepsy (JME) is a common disease. However, some aspects of etiology and pathogenesis are not yet fully clarified. This publication describes the development of ideas about JME, the types of seizures that occur in JME, provides a list of triggering factors and a prognosis severity scale that depending on these triggering factors. The section on JME diagnostics discusses methods of neuroimaging, electroencephalography, and approaches to assessing the mental status of JME patients. The data of meta-analysis of prevalence and risk factors of refractory JME in the context of assessment of the disease state and prognosis are presented. The data on advantages and disadvantages of various Antiepileptic Drugs (AEDs) for the control of the disease are considered. The results of the own study of AED spectrum and effectiveness in gender-sensitive and ILAE-recommended therapy in adults, as well as the GENERAL study of perampanel efficacy and safety in patients with idiopathic generalized epilepsy, are presented. It confirmed the high efficacy of the perampanel primarily for myoclonic seizures and generalized tonic-clonic seizures. A case study of a female patient with JME was also described, in which refractory to therapy was noted, including due to low compliance to the prescribed therapy.
About the Authors
I. V. Volkov
The Novosibirsk City Neurology Center “Sibneiromed”
Russian Federation
Russian Federation
Iosif V. Volkov – MD, PhD, neurologist-epileptologist
37 Michurina Str., Novosibirsk 630096
O. K. Volkova
The Novosibirsk City Neurology Center “Sibneiromed”; Novosibirsk Region City Children Emergency Clinical Hospital
Russian Federation
Russian Federation
Oksana K. Volkova – MD, neurologist-epileptologist
37 Michurina Str., Novosibirsk 630096
References
1. Jallon P., Latour P. Epidemiology of idiopathic generalized epilepsies. Epilepsia. 2005 Nov; 46: 10–4.
2. Panayiotopoulos C. P. Idiopathic generalized epilepsies: a review and modern approach. Epilepsia. 2005 Nov; 46: 1–6.
3. Covanis A. Photosensitivity in idiopathic generalized epilepsies. Epilepsia. 2005; 46: 67–72.
4. Wolf P., Yacubian E. M., Avanzini G., Sander T., Schmitz B., Wandschneider B., Koepp M. Juvenile myoclonic epilepsy: a system disorder of the brain. Epilepsy research. 2015 Aug 1; 114: 2–12.
5. Lancman M. E., Asconapé J. J., Penry J. K. Clinical and EEG asymmetries in juvenile myoclonic epilepsy. Epilepsia. 1994 Mar; 35 (2): 302–6.
6. So G. M., Thiele E. A., Sanger T., Schmid R., Riviello Jr J. J. Electroencephalogram and clinical focalities in juvenile myoclonic epilepsy. Journal of child neurology. 1998 Nov; 13 (11): 541–5.
7. Taylor I.,Marini C., Johnson M. R., Turner S., Berkovic S. F., Scheffer I. E. Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap? Brain. 2004 Jun 16; 127 (8):1878–86.
8. Gelisse P., Genton P., Thomas P., Rey M., Samuelian J. C., Dravet C. Clinical factors of drug resistance in juvenile myoclonic epilepsy. Journal of Neurology, Neurosurgery & Psychiatry. 2001 Feb 1; 70 (2): 240–3.
9. Guaranha M. S., de Araújo 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 Jan 1; 20 (1): 42–8.
10. Wirrell E. C., Camfield C. S., Camfield P. R., Gordon K. E., Dooley J. M. Long-term prognosis of typical childhood absence epilepsy: remission or progression to juvenile myoclonic epilepsy. Neurology. 1996 Oct 1; 47 (4): 912–8.
11. Wirrell E. C., Camfield P. R., Camfield C. S., Dooley J. M., Gordon K. E. Accidental injury is a serious risk in children with typical absence epilepsy. Archives of neurology. 1996 Sep 1; 53 (9): 929–32.
12. Uchida C. G., de Carvalho K. C., Guaranha M. S., Guilhoto L. M., de Araújo Filho G. M., Wolf P., Yacubian E. M. Phenotyping juvenile myoclonic epilepsy. Praxis induction as a biomarker of unfavorable prognosis. Seizure. 2015 Nov 1; 32: 62–8.
13. Martínez-Juárez I.E., Alonso M. E., Medina M. T., Durón R. M., Bailey J. N., López-Ruiz M., Ramos-Ramírez R., León L., Pineda G., Castroviejo I. P., Silva R. Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up. Brain. 2006 Mar 6; 129 (5): 1269–80.
14. Cao B., Tang Y., Li J., Zhang X., Shang H. F., Zhou D. A meta-analysis of voxel-based morphometry studies on gray matter volume alteration in juvenile myoclonic epilepsy. Epilepsy research. 2013 Oct 1; 106 (3): 370–7.
15. Aydin-Ozemir Z., Terzibasioglu E., Altindag E., Sencer S., Baykan B. Magnetic resonance spectroscopy findings in photosensitive idiopathic generalized epilepsy. Clinical EEG and neuroscience. 2010 Jan; 41(1): 42–9.
16. de Carvalho K. C., Uchida C. G., Guaranha M. S., Guilhoto L. M., Wolf P., Yacubian E. M. Cognitive performance in juvenile myoclonic epilepsy patients with specific endophenotypes. Seizure. 2016 Aug 1; 40: 33–41.
17. Stevelink R., Koeleman B. P., Sander J. W., Jansen F. E., Braun K. P. Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors. European journal of neurology. 2019 Jun; 26 (6): 856–64.
18. Chowdhury A., Brodie M. J. Pharmacological outcomes in juvenile myoclonic epilepsy: support for sodium valproate. Epilepsy research. 2016 Jan 1; 119: 62–6.
19. Villanueva V., Montoya J., Castillo A., Mauri-Llerda J.Á., Giner P, López-González F.J., Piera A., Villanueva-Hernández P., Bertol V., Garcia-Escrivá A., Garcia-Peñas J. J. Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12-month GENERAL study. Epilepsia. 2018 Sep; 59 (9): 1740–52.
Review
For citations:
Volkov I.V., Volkova O.K. Juvenile Myoclonic Epilepsy. Update. Epilepsy and paroxysmal conditions. 2020;12(1S):S41-S49. (In Russ.) https://doi.org/10.17749/2077-8333.2020.12.1S.S41-S49
Views: 1374
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Email this article 
