Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press2810.17650/2073-8803-2014-9-3-30-35REVIEWS AND LECTURESОБЗОРЫ И ЛЕКЦИИCLINICAL AND ELECTROENCEPHALOGRAPHIC CHANGES IN JUVENILE MYOCLONIC EPILEPSY (A LECTURE)Клинико-электроэнцефалографические изменения при юношеской миоклонической эпилепсии (лекция)MukhinK. Yu.МухинК. Ю.
Russian Federation
center@epileptologist.ruMironovM. B.МироновМ. Б.
Russian Federation
GlukhovaL. Yu.ГлуховаЛ. Ю.
Russian Federation
Svt. Luka’s Institute of Child Neurology and Epilepsy, MoscowООО «Институт детской неврологии и эпилепсии им. Святителя Луки», Москва150720149330351804201518042015Copyright ©; 2014, ABV-PressCopyright ©; 2014, АБВ-пресс2014ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/28

Juvenile myoclonic epilepsy (JME) is a form of idiopathic generalized epilepsy characterized by adolescent onset with massive myoclonicseizures and, in most cases, convulsive seizures occurring mainly on awakening. According to the Proposed Diagnostic Schema for Peoplewith Epileptic Seizures and with Epilepsy (2001), JME is classified into a group of idiopathic generalized epilepsy with a variable phenotype. The authors give the genetic bases of the disease, describe its clinical picture in detail, including the atypical course of JME, and consider diagnostic criteria, approaches to patient management, and principles of medical therapy. By taking into account the most common precipitating factors, along with drug therapy, the sleep and wake regimen must be strictly adhered to and household photo stimulation be avoided. Complete medical remission is achieved in about 90 % of patients (on correctly chosen therapy), in most cases on monotherapy. However, the problem resides in high recurrence rates after withdrawal of antiepileptic drugs. The major predictors of increased risk for a recurrence aftertherapy discontinuation are considered.

juvenile myoclonic epilepsyclinical manifestationsdiagnosistreatmentюношеская миоклоническая эпилепсияклинические проявлениядиагностикалечение1. Карлов В.А. Эпилепсия. М.: Медицина, 1990. 336 с.Карлов В.А. Эпилепсия. М.: Медицина, 1990. 336 с.2. Карлов В.А., Фрейдкова Н.В. Юношеская миоклоническая эпилепсия. В кн.: Эпилепсия у детей и взрослых женщин и мужчин. Под ред. В.А. Карлова. М.: Медицина, 2010. С. 244–8.Карлов В.А., Фрейдкова Н.В. Юношеская миоклоническая эпилепсия. В кн.: Эпилепсия у детей и взрослых женщин и мужчин. Под ред. В.А. Карлова. М.: Медицина, 2010. С. 244–8.3. Миронов М.Б. Факторы риска и частота рецидивов у больных юношескими формами идиопатической генерализованной эпилепсии. Дис. ... канд. мед. наук. М., 2005. 119 с.Миронов М.Б. Факторы риска и частота рецидивов у больных юношескими формами идиопатической генерализованной эпилепсии. Дис. ... канд. мед. наук. М., 2005. 119 с.4. Миронов М.Б., Мухин К.Ю. Клинические, электроэнцефалографические и нейровизуализационные характеристики пациентов с эпилептическим миоклонусом век. Рус журн дет неврол 2014;9(2):15–22.Миронов М.Б., Мухин К.Ю. Клинические, электроэнцефалографические и нейровизуализационные характеристики пациентов с эпилептическим миоклонусом век. Рус журн дет неврол 2014;9(2):15–22.5. Миронов М.Б., Мухин К.Ю., Петрухин А.С., Холин А.А. Контроль эффективности лечения пациентов с юношескими формами идиопатической генерализованной эпилепсии и состояние «псевдоремиссии». Журн неврол психиатр 2005;105(8):24–8.Миронов М.Б., Мухин К.Ю., Петрухин А.С., Холин А.А. Контроль эффективности лечения пациентов с юношескими формами идиопатической генерализованной эпилепсии и состояние «псевдоремиссии». Журн неврол психиатр 2005;105(8):24–8.6. Мухин К.Ю. Юношеская миоклоническая эпилепсия (синдром Янца). В кн.: К.Ю. Мухин, А.С. Петрухин. Идиопатические формы эпилепсии: систематика, диагностика, терапия. М.: Арт-Бизнес-Центр, 2000. С. 120–35.Мухин К.Ю. Юношеская миоклоническая эпилепсия (синдром Янца). В кн.: К.Ю. Мухин, А.С. Петрухин. Идиопатические формы эпилепсии: систематика, диагностика, терапия. М.: Арт-Бизнес-Центр, 2000. С. 120–35.7. Aicardi J. Epilepsy in Children, 2nd edition. Philadelphia: Lippincott-Raven, 1996. Pр. 80–7.Aicardi J. Epilepsy in Children, 2nd edition. Philadelphia: Lippincott-Raven, 1996. Pр. 80–7.8. Baykan B., Altindag E.A., Bebek N. et al. Myoclonic seizures subside in the fourth decade in juvenile myoclonic epilepsy. Neurology 2008;70(22 Pt 2):2123–9.Baykan B., Altindag E.A., Bebek N. et al. Myoclonic seizures subside in the fourth decade in juvenile myoclonic epilepsy. Neurology 2008;70(22 Pt 2):2123–9.9. Crespel A., Genton P., Berramdane M. et al. Lamotrigine associated with exacerbation or de novo myoclonus in idiopathic generalized epilepsies. Neurology 2005;65(56):762–4.Crespel A., Genton P., Berramdane M. et al. Lamotrigine associated with exacerbation or de novo myoclonus in idiopathic generalized epilepsies. Neurology 2005;65(56):762–4.10. Engel J.; International League Against Epilepsy (ILAE). 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(6):796–803.Engel J.; International League Against Epilepsy (ILAE). 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(6):796–803.11. Genton P., Gelisse P., Thomas P. Juvenile myoclonic epilepsy today: current definition and limits. In: Juvenile myoclonic epilepsy. The Janz syndrome. B. Scmitz, T. Sander (еds.). Petersfild, 2000. Pр. 11–32.Genton P., Gelisse P., Thomas P. Juvenile myoclonic epilepsy today: current definition and limits. In: Juvenile myoclonic epilepsy. The Janz syndrome. B. Scmitz, T. Sander (еds.). Petersfild, 2000. Pр. 11–32.12. Greenberg D.A., Durner M., Resor S. et al. The genetics of idiopathic generalized epilepsies of adolescent onset: differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal. Neurology 1995;45(5):942–6.Greenberg D.A., Durner M., Resor S. et al. The genetics of idiopathic generalized epilepsies of adolescent onset: differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal. Neurology 1995;45(5):942–6.13. Grunewald R.A. Juvenile myoclonic epilepsy. In: Atlas of epilepsies. C. Panayiotopoulos (еd.). London: Springer, 2010. Pр. 1033–40.Grunewald R.A. Juvenile myoclonic epilepsy. In: Atlas of epilepsies. C. Panayiotopoulos (еd.). London: Springer, 2010. Pр. 1033–40.14. Jain S., Padma M.V., Maheshwari M.C. Occurrence of only myoclonic jerks in juvenile myoclonic epilepsy. Acta Neurol Scand 1997;95(5):263–7.Jain S., Padma M.V., Maheshwari M.C. Occurrence of only myoclonic jerks in juvenile myoclonic epilepsy. Acta Neurol Scand 1997;95(5):263–7.15. Janz D. Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy). Acta Neurol Scand 1985;72(5):339–59.Janz D. Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy). Acta Neurol Scand 1985;72(5):339–59.16. Janz D. Juvenile myoclonic epilepsy. In: Comprehensive epileptology. M. Dam, L. Gram (еds.). New York, 1991. Pp. 171–85.Janz D. Juvenile myoclonic epilepsy. In: Comprehensive epileptology. M. Dam, L. Gram (еds.). New York, 1991. Pp. 171–85.17. Khani Y.A., Andermann F., Andermann E. Antimyoclonic efficacy of piracetam in idiopathic generalized epilepsy. Epilepsia 2005;46(7):1145–6.Khani Y.A., Andermann F., Andermann E. Antimyoclonic efficacy of piracetam in idiopathic generalized epilepsy. Epilepsia 2005;46(7):1145–6.18. Lu Y., Waltz S., Stenzel K. et аl. Photosensitivity in epileptic syndromes of childhood and adolescence. Epileptic Disord 2008;10(2):136–43.Lu Y., Waltz S., Stenzel K. et аl. Photosensitivity in epileptic syndromes of childhood and adolescence. Epileptic Disord 2008;10(2):136–43.19. Luders H.-O., Noachtar S. Atlas of еpileptic seizures and syndromes. Philadelphia: W.B. Saunders Company, 2001. 205 р.Luders H.-O., Noachtar S. Atlas of еpileptic seizures and syndromes. Philadelphia: W.B. Saunders Company, 2001. 205 р.20. Marinas A., Villanueva V., Giraldez B.G. et al. Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy. Epileptic Disord 2009;11(1):61–6.Marinas A., Villanueva V., Giraldez B.G. et al. Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy. Epileptic Disord 2009;11(1):61–6.21. Martinez-Juares I.E., Alonso M.E., Medina M.T. et al. Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up. Brain 2006;129(Pt 5):1269–80.Martinez-Juares I.E., Alonso M.E., Medina M.T. et al. Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up. Brain 2006;129(Pt 5):1269–80.22. Matsuoka H. A clinical and electroencephalographic study of juvenile myoclonic epilepsy: its pathophysiological considerations based on the findings obtained from neuropsychological EEG activation. Seishin Shinkeigaku Zasshi 1989;91(5): 318–46.Matsuoka H. A clinical and electroencephalographic study of juvenile myoclonic epilepsy: its pathophysiological considerations based on the findings obtained from neuropsychological EEG activation. Seishin Shinkeigaku Zasshi 1989;91(5): 318–46.23. Obeid T., Panayiotopoulos C.P. Juvenile myoclonic epilepsy: a study in Saudi Arabia. Epilepsia 1988;29(3):280–2.Obeid T., Panayiotopoulos C.P. Juvenile myoclonic epilepsy: a study in Saudi Arabia. Epilepsia 1988;29(3):280–2.24. Panayiotopoulos C.P., Tahan R., Obeid T. Juvenile myoclonic epilepsy: factors of errors involved in the diagnosis and treatment. Epilepsia 1991;32(5):672–6.Panayiotopoulos C.P., Tahan R., Obeid T. Juvenile myoclonic epilepsy: factors of errors involved in the diagnosis and treatment. Epilepsia 1991;32(5):672–6.25. Panayiotopoulos C.Р. Idiopathic generalized epilepsies. New York: Springer, 2012. Pр. 41–4.Panayiotopoulos C.Р. Idiopathic generalized epilepsies. New York: Springer, 2012. Pр. 41–4.26. So G.M., Thiele E.A., Sanger T. et al. Electroencephalogram and clinical focalities in juvenile myoclonic epilepsy. J Child Neurol 1998;13(11):541–5.So G.M., Thiele E.A., Sanger T. et al. Electroencephalogram and clinical focalities in juvenile myoclonic epilepsy. J Child Neurol 1998;13(11):541–5.27. Sundqvist A. Juvenile myoclonic epilepsy: events before diagnosis. J Epilepsy 1990;3: 189–92.Sundqvist A. Juvenile myoclonic epilepsy: events before diagnosis. J Epilepsy 1990;3: 189–92.28. Taske N.L., Williamson M.P., Makoff A. et al. Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13- 14. Epilepsy Res 2002;49(2):157–72.Taske N.L., Williamson M.P., Makoff A. et al. Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13- 14. Epilepsy Res 2002;49(2):157–72.29. Thomas P., Genton P., Gelisse P. et al. Juvenile myoclonic epilepsy. In: Epileptic syndromes in infancy, childhood and adolescence. M. Bureau, P. Genton, C. Dravet et al. (eds.). 5th edition with video. Paris: John Libbey Eurotext, 2012. Pр. 305–28.Thomas P., Genton P., Gelisse P. et al. Juvenile myoclonic epilepsy. In: Epileptic syndromes in infancy, childhood and adolescence. M. Bureau, P. Genton, C. Dravet et al. (eds.). 5th edition with video. Paris: John Libbey Eurotext, 2012. Pр. 305–28.30. Tsuboi T. Primary generalized epilepsy with sporadic myoclonias of myoclonic рetit mal type. Stuttgart, 1977. 205 р.Tsuboi T. Primary generalized epilepsy with sporadic myoclonias of myoclonic рetit mal type. Stuttgart, 1977. 205 р.31. Wolf P. Juvenile myoclonic epilepsy. In: Epileptic syndromes in infancy, childhood and adolescence. J. Roger, M. Bureau, C. Dravet et al. (eds.). Paris, 1992. Pр. 316–27.Wolf P. Juvenile myoclonic epilepsy. In: Epileptic syndromes in infancy, childhood and adolescence. J. Roger, M. Bureau, C. Dravet et al. (eds.). Paris, 1992. Pр. 316–27.32. Wolf P., Goosses R. Relation of photosensitivity to epileptic syndromes. J Neurol Neurosurg Psychiatry 1986; 49(12): 1386–91.Wolf P., Goosses R. Relation of photosensitivity to epileptic syndromes. J Neurol Neurosurg Psychiatry 1986; 49(12): 1386–91.