Juvenile myoclonic epilepsy: neurophysiological aspects
https://doi.org/10.14412/2074-2711-2018-1S-31-37
Abstract
The review presents an update on the electroencephalographic characteristics and neurophysiology of juvenile myoclonic epilepsy (JME) in Russia and foreign countries.
Materials and methods. The authors have performed a literary search for the full-text publications on JME electroencephalography and neurophysiology worldwide and in the Russian Federation, which are available in Russian and foreign databases.
Results and discussion. Analysis of the literature suggests that JME patients have some electroencephalographic pattern features that include the atypical morphology of spike-and-slow-wave complexes, as well as amplitude asymmetry, focal discharges, focal onset of paroxysms, focal paroxysmal shift, and generalized paroxysmal fast rhythm.
The analysis of the literature also indicates that primary care neurologists, clinical neurophysiologists, and epileptologists should be informed about the electroencephalographic characteristics of JME to timely diagnose the disease and to rule out the use of inadequate therapy.
About the Authors
O. S. Shilkina
Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Ministry of Health of Russia
Russian Federation
1, Partisan Zheleznyak St., Krasnoyarsk, 660022
Russian Federation
1, Partisan Zheleznyak St., Krasnoyarsk, 660022
N. A. Shnaider
Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Ministry of Health of Russia
V.M. Bekhterev National Medical Research Center, of Psychiatry and Neurology, Ministry of Health of Russia
Russian Federation
Russian Federation
1, Partisan Zheleznyak St., Krasnoyarsk, 660022
3, Bekhterev St., Saint Petersburg 192019
D. V. Dmitrenko
Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Ministry of Health of Russia
Russian Federation
1, Partisan Zheleznyak St., Krasnoyarsk, 660022
Russian Federation
1, Partisan Zheleznyak St., Krasnoyarsk, 660022
K. T. Kim
Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Ministry of Health of Russia
Russian Federation
1, Partisan Zheleznyak St., Krasnoyarsk, 660022
Russian Federation
1, Partisan Zheleznyak St., Krasnoyarsk, 660022
References
1. Engel JJ. Report of the ILAE classification core group. Epilepsia. 2006;47(9):1558-68. doi: 10.1111/j.1528-1167.2006.00215.x
2. Шилкина ОС, Шнайдер НА. Эпидемиология юношеской миоклонической эпилепсии. Неврология, нейропсихиатрия, психосоматика. 2017;(1S):26-31 [Shilkina OS, Schnaider NA. Epidemiology of juvenile myoclonic epilepsy. Nevrologiya, Neiropsikhiatriya, Psikhosomatika = Neurology, Neuropsychiatry, Psychosomatics. 2017;(Special Issue 1):26-31 (In Russ.)]. doi: 10.14412/2074-2711-2017-1S-26-31
3. Карлов ВА, Фрейдкова НВ. Юношеская миоклоническая эпилепсия. В кн.: Карлов ВА. Эпилепсия у детей и взрослых, женщин и мужчин. Москва: Медицина; 2010. C. 244- 8 [Karlov VA, Freydkova NV. Juvenile myoclonic epilepsy. In: Karlov VA. Epilepsiya u detey i vzroslykh, zhenshchin i muzhchin [Epilepsy in children and adults, women and men]. Moscow: Meditsina; 2010. P. 244-8. (In Russ.)].
4. Panayiotopoulos CP, Tahan R, Obeid T. Juvenile myoclonic epilepsy: factors of errors involved in the diagnosis and treatment. Epilepsia. 1991;32(5):672-6. doi: 10.1111/j.1528-1157.1991.tb04708.x
5. Artyukhov IP, Shilkina OS, Shnayder NA, et al. Case report of management problem of juvenile myoclonic epilepsy. Case Rep Clin Med. 2016;(5):217-24.
6. Serafini A, Rubboli G, Gigli GL, et al. Neurophysiology of juvenile myoclonic epilepsy. Epilepsy Behav. 2013;28(1):30-9. doi: 10.1016/j.yebeh.2012.11.042
7. Genton P, Puig XS, Tunon A, et al. Juvenile myoclonic epilepsy and related syndromes: clinical and neurophysiological aspects. In: Malafosse A, Genton P, Hirsch E, Marescaux C, et al. Idiopathic generalized epilepsies: clinical, experimental and genetic aspects. London, UK: John Libbey and Company Ltd; 1994. P. 253-65.
8. Santiago-Rodriguez E, Harmony T, Cardenas-Morales L, et al. Analysis of background EEG activity in patients with juvenile myoclonic epilepsy. Seizure. 2008;17:437-45. doi: 10.1016/j.seizure.2007.12.009
9. Genton P, Gonzalez Sanchez MS, Saltarelli A, et al. Misleading aspects of standard electro- encephalography in JME. Neurophysiol Clin. 1995;25:283-90. doi: 10.1016/0987-7053(96)80171-7
10. Betting LE, Mory SB, Lopes-Cendes I, et al. EEG features in idiopathic generalized epilepsy: clues to diagnosis. Epilepsia. 2006;47:523-8. doi: 10.1111/j.1528-1167.2006.00462.x
11. Мухин КЮ, Фрейдкова НВ, Глухова ЛЮ и др. Юношеская миоклоническая эпилепсия: фокус на эффективность терапии и частоту рецидивов по данным длительного катамнеза. Русский журнал детской неврологии. 2015;10(4):7-16 [Mukhin KYu, Freydkova NV, Glukhova LYu, et al. Juvenile myoclonic epilepsy: focus on the effectiveness of therapy and the frequency of recurrence according to the longterm catamnesis data. Russkiy Zhurnal Detskoy Nevrologii. 2015;10(4):7-16 (In Russ.)].
12. Panayiotopoulos CP, Obeid T, Tahan AR. Juvenile myoclonic epilepsy: a 5-year prospective study. Epilepsia. 1994;35:285-96. doi: 10.1111/j.1528-1157.1994.tb02432.x
13. Baise-Zung C, Guilhoto LM, Grossmann RM. Juvenile myoclonic epilepsy: nonclassic electroencephalographical presentation in adult patients. Eur J Neurol. 2006;13:171-5. doi: 10.1111/j.1468-1331.2006.01164.x
14. Aliberti V, Grü newald RA, Panayiotopoulos CP, Chroni E. Focal electroencephalographic abnormalities in juvenile myoclonic epilepsy. Epilepsia. 1994;35:297-301. doi: 10.1111/j.1528-1157.1994.tb02433.x
15. Lancman ME, Asconape JJ, Penry JK. Clinical and EEG asymmetries in juvenile myoclonic epilepsy. Epilepsia. 1994;35:302-6. doi: 10.1111/j.1528-1157.1994.tb02434.x
16. 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. doi: 10.1016/S1059-1311(03)00145-6
17. Sagi V, Kim I, Bhatt AB, et al. Generalized paroxysmal fast activity in EEG: An unrecognized finding in genetic generalized epilepsy. Epilepsy Behav. 2017. doi: 10.1016/j.yebeh.2017.08.019
18. Murthy JM, Rao CM, Meena AK. Clinical observations of juvenile myoclonic epilepsy in 131 patients: a study in South India. Seizure. 1998;7:43-7. doi: 10.1016/S1059- 1311(98)90007-3
19. Atakli D, Sozuer D, Atay T, et al. Misdiagnosis and treatment in juvenile myoclonic epilepsy. Seizure. 1998;7:63-6. doi: 10.1016/S1059-1311(98)90010-3
20. Воронкова КВ, Холин АА, Ахмедов ТМ и др. Фокальные черты идиопатических генерализованных эпилепсий. Результаты собственного исследования. Лечебное дело. 2012;(2):65-74 [Voronkova KV, Kholin AA, Akhmedov TM, et al. Focal features of idiopathic generalized epilepsies. Results of your own research. Lechebnoe Delo. 2012; (2):65-74 (In Russ.)].
21. Shahnaz А, Sher K, Sattar RA. Clinical and EEG characteristics of Juvenile Myoclonic Epilepsy. Pak J Med Sci. 2014;30(1):12-5. doi: 10.12669/pjms.301.4465
22. Seneviratne U, Hepworth G, Cook M, D'Souza W. Atypical EEG abnormalities in genetic generalized epilepsies. Clin Neurophysiol. 2016;127(1):214-20. doi: 10.1016/j.clinph.2015.05.031. Epub 2015 Jun 19.
23. Montalenti E, Imperiale D, Rovera A, et al. Clinical features, EEG findings and diagnostic pitfalls in juvenilemyoclonic epilepsy: a series of 63 patients. J Neurol Sci. 2001;184:65-70. doi: 10.1016/S0022-510X(00)00496-2
24. Lombroso CT. Consistent EEG focalities detected in subjects with primary generalized epilepsies monitored for two decades. Epilepsia. 1997;38:797-812. doi: 10.1111/j.1528-1157.1997.tb01467.x
25. Dhanuka AK, Jain BK, Singh D, Maheshwari D. Juvenile myoclonic epilepsy: a clinical and sleep EEG study. Seizure. 2001;10:374-8. doi: 10.1053/seiz.2001.0522
26. Jayalakshmi SS, Srinivasa Rao B, Sailaja S. Focal clinical and electroencephalographic features in patients with juvenile myoclonic epilepsy. Acta Neurol Scand. 2010;122:115-23.
27. Japaridze G, Kasradze S, Lomidze G, et al. Focal EEG features and therapeutic response in patients with juvenile absence and myoclonic epilepsy. Clin Neurophysiol. 2016;127(2):1182-7. doi: 10.1016/j.clinph.2015.11.048
28. Esmail EH, Nawito AM, Labib DM, Basheer MA. Focal interictal epileptiform discharges in idiopathic generalized epilepsy. Neurol Sci. 2016;37(7):1071-7. doi: 10.1007/s10072-016-2538-5
29. Kasteleijn-Nolst Trenite DG, de Weerd A, Beniczky S. Chronodependency and provocative factors in juvenile myoclonic epilepsy. Epilepsy Behav. 2013;28(1):25-9. doi: 10.1016/j.yebeh.2012.11.045
30. Appleton R, Beirne M, Acomb B. Photosensitivity in juvenile myoclonic epilepsy. Seizure. 2000;9:108-11. doi: 10.1053/seiz.1999.0376
31. Beniczky S, Guaranha MS, Conradsen I, et al. Modulation of epileptiform EEG discharges in juvenile myoclonic epilepsy: an investigation of reflex epileptic traits. Epilepsia. 2012 May;53(5):832-9. doi: 10.1111/j.1528-1167.2012.03454.x
32. Genton P, Gelisse P, Thomas P. Juvenile myoclonic epilepsy today: current definition and limits. In: Schmitz B, Sander T, editors. Juvenile myoclonic epilepsy: the Janz syndrome. Petersfield and Philadelphia: Wrightson Medical Publishing; 2000. P. 11-32.
33. Карлов ВА. Фотосенситивность, эпилепсия, затылочная и лобная кора. Эпилепсия и пароксизмальные состояния. 2014;6(4):31-6 [Karlov VA. Photosensitivity, epilepsy, occipital and frontal cortex. Epilepsiya i Paroksizmal'nye Sostoyaniya. 2014;6(4):31-6 (In Russ.)].
34. Touchon J. Effect of awakening on epileptic activity in primary generalized myoclonic epilepsy. In: Sterman MB, Shouse MN, Passouant P, editors. Sleep and epilepsy. New York: Academic Press; 1982. P. 239-47.
35. Billiard M. Epilepsies and the sleep-wake cycle. In: Sterman MB, Shouse MN, PassouantP, editors. Sleep and epilepsy. New York: Academic Press; 1982. P. 269-89.
36. SalasPuig J, Tunon JA, Mateos V, et al. Janz's juvenile myoclonic epilepsy: a little known frequent syndrome. Med Clin. 1994;103:684-9.
37. Janz D, Christian W. Impulsiv – petit mal. Deutsche Zeitschrift fü r Nervenheilkunde. 1957;176:346-86 (English translation by Genton P. In: Malafosse A, Genton P, Hirsch E, et al, editors. Idiopathic generalized epilepsies. London: John Libbey; 1994. P. 229-51).
38. Panayiotopoulos CP. A clinical guide to epileptic syndromes and their treatment, revised 2nd ed. London: Springer Healthcare Ltd.; 2010. 39. Morison RS, Dempsey EW. A study of thalamo-cortical relations. Am J Physiol. 1941;135:281-92. doi: 10.1152/ajplegacy.1941.135.2.281
39. Meeren H, van Luijtelaar G, Lopes da Silva F, Coenen A. Evolving concepts on the pathophysiology of absence seizures: the cortical focus theory. Arch Neurol. 2005;62:371-6. doi: 10.1001/archneur.62.3.371
40. Penfield WG, Jasper HH. Epilepsy and functional anatomy of the human brain. Boston, MA: Little Brown & Co; 1954.
41. Buzsaki G. The thalamic clock: emergent network properties. Neuroscience. 1991;41:351-64. doi: 10.1016/0306-4522(91)90332-I
42. Gloor P. Generalized cortico-reticular epilepsies: some considerations on the pathophysiology of generalized bilaterally synchronous spike and wave discharge. Epilepsia. 1968;9:249-63. doi: 10.1111/j.1528-1157.1968.tb04624.x
43. Gloor P. Generalized epilepsy with bilateral synchronous spike and wave discharge. New findings concerning its physiological mechanisms. Electroencephalogr Clin Neurophysiol. Suppl 1978;34:245-9.
44. Leresche N, Lambert RC, Errington AC, Crunelli V. From sleep spindles of natural sleep to spike and wave discharges of typical absence seizures: is the hypothesis still valid? Pflugers Arch. 2012;463(1):201-12. doi: 10.1007/s00424-011-1009-3
45. Laws E, Niedermeyer E, Walker AE. Depth EEG findings in epileptics with generalzed spike-wave complexes. Electroencephalogr Clin Neurophysiol. 1970;28:94-5.
46. Moeller F, Maneshi M, Pittau F, et al. Functional connectivity in patients with idiopathic generalized epilepsy. Epilepsia. 2011;52:515-22. doi: 10.1111/j.1528-1167.2010.02938.x
47. Clemens B, Puskas S, Besenyei M, et al. Neurophysiology of juvenile myoclonic epilepsy: EEG-based network and graph analysis of the interictal and immediate preictal states. Epilepsy Res. 2013;106(3):357-69. doi: 10.1016/j.eplepsyres.2013.06.017. Epub 2013 Jul 22.
48. Vollmar C, O'Muircheartaigh J, Barker GJ, et al. Motor system hyperconnectivity in juvenile myoclonic epilepsy: a cognitive functional magnetic resonance imaging study. Brain. 2011;134:1710-9. doi: 10.1093/brain/awr098
49. Matsuoka H, Takahashi T, Sasaki M, et al. Neuropsychological EEG activation in patients with epilepsy. Brain. 2000;123:318-30. doi: 10.1093/brain/123.2.318
50. O'Muircheartaigh J, Vollmar C, Barker GJ, et al. Focal structural changes and cognitive dysfunction in juvenile myoclonic epilepsy. Neurology. 2011;76:34-40. doi: 10.1212/WNL.0b013e318203e93d
51. Vollmar C, O'Muircheartaigh J, Symms MR, et al. Altered microstructural connectivity in juvenile myoclonic epilepsy: the missing link. Neurology. 2012;78(20):1555-9. doi: 10.1212/WNL.0b013e3182563b44
52. Rodin E, Ancheta O. Cerebral electrical fields during petit mal absences. Electroencephalogr Clin Neurophysiol. 1987;66:457-66. doi: 10.1016/0013-4694(87)90092-7
53. Holmes MD, Brown M, Tucker DM. Are «generalized» seizures truly generalized? Evidence of localized mesial frontal and frontopolar discharges in absence. Epilepsia. 2004;45:1568-79. doi: 10.1111/j.0013-9580.2004.23204.x
54. Карлов ВА, Гнездицкий ВВ, Баярмаа Дондов. Транскраниальная магнитная стимуляция при эпилепсии: показания и противопоказания. В кн.: Международная конференция «Эпилепсия – диагностика, лечение». Москва; 2005. С. 162-7 [Karlov VA, Gnezditskiy VV, Bayarmaa Dondov. Transcranial magnetic stimulation in epilepsy: indications and contraindications. In: Mezhdunarodnaya konferentsiya «Epilepsiya – diagnostika, lechenie » [International Conference «Epilepsy – Diagnosis, Treatment»]. Moscow; 2005. P. 162-7 (In Russ.)].
55. Bartolini E, Pesaresi I, Fabbri S, et al. Abnormal response to photic stimulation in juvenile myoclonic epilepsy: an EEG-fMRI study. Epilepsia. 2014;55(7):1038-47. doi: 10.1111/epi.12634
56. Blumenfeld H. Cellular and network mechanisms of spike-wave seizures. Epilepsia. 2005;46(9):21-33. doi: 10.1111/j.1528-1167.2005.00311.x
57. Altindag E, Baslo B, Baykan B, et al. Reduced axon number in juvenile myoclonic epilepsy demonstrated by motor unit number estimation analysis. Clin EEG Neurosci. 2007;38(3):127- 31. doi: 10.1177/155005940703800307
58. Шнайдер НА, Шилкина ОС, Петров КВ и др. Клинико-генетическая гетерогенность юношеской миоклонической эпилепсии. Эпилепсия и пароксизмальные состояния. 2016;(2):20-36 [Shnayder NA, Shilkina OS, Petrov KV, et al. Clinical and genetic heterogeneity of juvenile myoclonic epilepsy. Epilepsiya i Paroksizmal'nye Sostoyaniya. 2016;(2):20-36 (In Russ.)].
Review
For citations:
Shilkina OS, Shnaider NA, Dmitrenko DV, Kim KT. Juvenile myoclonic epilepsy: neurophysiological aspects. Nevrologiya, neiropsikhiatriya, psikhosomatika = Neurology, Neuropsychiatry, Psychosomatics. 2018;10(1S):31-37. (In Russ.) https://doi.org/10.14412/2074-2711-2018-1S-31-37
Views:
905
Email this article 