UpToDate
Official reprint from UpToDate®
www.uptodate.com ©2017 UpToDate®

青少年肌阵挛性癫痫

Author
Christian M Korff, MD
Section Editor
Douglas R Nordli, Jr, MD
Deputy Editor
April F Eichler, MD, MPH
Translators
张丹, 主治医师

引言

青少年肌阵挛性癫痫(juvenile myoclonic epilepsy, JME)，以前被称为“冲动性癫痫小发作”或Janz综合征，是最常见的儿童期全面性特发性癫痫之一[1]。该疾病通常发生于其他方面健康的青少年，其特点为三联征：肌阵挛抽搐、全面性强直-阵挛发作(generalized tonic-clonic seizure, GTCS)和失神发作(也被称为癫痫小发作)。癫痫发作的特征为在觉醒时发生或与睡眠剥夺相关，并且患者通常使用标准的抗癫痫药物(antiepileptic drug, AED)能迅速且完全地缓解。癫痫发作频率常在成年期减少，但大部分患者需要终生使用AED治疗。JME的基础病因目前尚未知，并且可能存在潜在的复杂遗传缺陷[1]。

JME的流行病学、病理生理学、临床特点、诊断和治疗将总结在此。其他儿童癫痫性综合征见其他专题。 (参见“儿童癫痫综合征”和“儿童良性局灶性癫痫”和“部分性癫痫：病因和临床特征”)

流行病学

JME占特发性全面性癫痫的25%-30%，占所有癫痫病例的高达10%[2]。根据20岁前癫痫的人群风险为1%，可估算JME的发病率为1/2000-1/1000[3]。

一般认为JME无性别差异，但几项研究已报道患者中女性占多数，与男性的比例达2.9:1[4-6]。

平均起病年龄为15岁，起病年龄范围为5-34岁[7-10]。大部分患者在12-18岁被诊断。

                   

Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: 2017-06 . | This topic last updated: 2016-05-18.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2017 UpToDate, Inc.
References
Top
  1. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 1989; 30:389.
  2. Hauser WA. The prevalence and incidence of convulsive disorders in children. Epilepsia 1994; 35 Suppl 2:S1.
  3. Hauser WA, Annegers JF, Kurland LT. Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984. Epilepsia 1993; 34:453.
  4. Janz D. Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy). Acta Neurol Scand 1985; 72:449.
  5. Pedersen SB, Petersen KA. Juvenile myoclonic epilepsy: clinical and EEG features. Acta Neurol Scand 1998; 97:160.
  6. Kleveland G, Engelsen BA. Juvenile myoclonic epilepsy: clinical characteristics, treatment and prognosis in a Norwegian population of patients. Seizure 1998; 7:31.
  7. Jayalakshmi SS, Srinivasa Rao B, Sailaja S. Focal clinical and electroencephalographic features in patients with juvenile myoclonic epilepsy. Acta Neurol Scand 2010; 122:115.
  8. Murthy JM, Rao CM, Meena AK. Clinical observations of juvenile myoclonic epilepsy in 131 patients: a study in South India. Seizure 1998; 7:43.
  9. Canevini MP, Mai R, Di Marco C, et al. Juvenile myoclonic epilepsy of Janz: clinical observations in 60 patients. Seizure 1992; 1:291.
  10. Vijai J, Cherian PJ, Stlaja PN, et al. Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands. Seizure 2003; 12:490.
  11. Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51:676.
  12. Zifkin B, Andermann E, Andermann F. Mechanisms, genetics, and pathogenesis of juvenile myoclonic epilepsy. Curr Opin Neurol 2005; 18:147.
  13. Delgado-Escueta AV. Advances in genetics of juvenile myoclonic epilepsies. Epilepsy Curr 2007; 7:61.
  14. Liu AW, Delgado-Escueta AV, Gee MN, et al. Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations. Am J Med Genet 1996; 63:438.
  15. Bai D, Alonso ME, Medina MT, et al. Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am J Med Genet 2002; 113:268.
  16. Suzuki T, Delgado-Escueta AV, Aguan K, et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004; 36:842.
  17. Annesi F, Gambardella A, Michelucci R, et al. Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. Epilepsia 2007; 48:1686.
  18. Medina MT, Suzuki T, Alonso ME, et al. Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology 2008; 70:2137.
  19. Cossette P. Channelopathies and juvenile myoclonic epilepsy. Epilepsia;51 Suppl 1:30-2.
  20. Manganotti P, Bongiovanni LG, Fuggetta G, et al. Effects of sleep deprivation on cortical excitability in patients affected by juvenile myoclonic epilepsy: a combined transcranial magnetic stimulation and EEG study. J Neurol Neurosurg Psychiatry 2006; 77:56.
  21. Badawy RA, Curatolo JM, Newton M, et al. Sleep deprivation increases cortical excitability in epilepsy: syndrome-specific effects. Neurology 2006; 67:1018.
  22. Badawy RA, Macdonell RA, Jackson GD, Berkovic SF. Why do seizures in generalized epilepsy often occur in the morning? Neurology 2009; 73:218.
  23. 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.
  24. Anderson J, Hamandi K. Understanding juvenile myoclonic epilepsy: Contributions from neuroimaging. Epilepsy Res 2011.
  25. Pulsipher DT, Seidenberg M, Guidotti L, et al. Thalamofrontal circuitry and executive dysfunction in recent-onset juvenile myoclonic epilepsy. Epilepsia 2009; 50:1210.
  26. Deppe M, Kellinghaus C, Duning T, et al. Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy. Neurology 2008; 71:1981.
  27. Vulliemoz S, Vollmar C, Koepp MJ, et al. Connectivity of the supplementary motor area in juvenile myoclonic epilepsy and frontal lobe epilepsy. Epilepsia 2011; 52:507.
  28. Liu M, Concha L, Beaulieu C, Gross DW. Distinct white matter abnormalities in different idiopathic generalized epilepsy syndromes. Epilepsia 2011; 52:2267.
  29. Keller SS, Ahrens T, Mohammadi S, et al. Microstructural and volumetric abnormalities of the putamen in juvenile myoclonic epilepsy. Epilepsia 2011; 52:1715.
  30. Mory SB, Betting LE, Fernandes PT, et al. Structural abnormalities of the thalamus in juvenile myoclonic epilepsy. Epilepsy Behav 2011; 21:407.
  31. Kim JH, Lee JK, Koh SB, et al. Regional grey matter abnormalities in juvenile myoclonic epilepsy: a voxel-based morphometry study. Neuroimage 2007; 37:1132.
  32. Woermann FG, Free SL, Koepp MJ, et al. Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI. Brain 1999; 122 ( Pt 11):2101.
  33. O'Muircheartaigh J, Vollmar C, Barker GJ, et al. Focal structural changes and cognitive dysfunction in juvenile myoclonic epilepsy. Neurology 2011; 76:34.
  34. Tae WS, Kim SH, Joo EY, et al. Cortical thickness abnormality in juvenile myoclonic epilepsy. J Neurol 2008; 255:561.
  35. Lin K, Jackowski AP, Carrete H Jr, et al. Voxel-based morphometry evaluation of patients with photosensitive juvenile myoclonic epilepsy. Epilepsy Res 2009; 86:138.
  36. Tae WS, Joo EY, Han SJ, et al. CBF changes in drug naive juvenile myoclonic epilepsy patients. J Neurol 2007; 254:1073.
  37. Aghakhani Y, Bagshaw AP, Bénar CG, et al. fMRI activation during spike and wave discharges in idiopathic generalized epilepsy. Brain 2004; 127:1127.
  38. de Araújo Filho GM, Lin K, Lin J, et al. Are personality traits of juvenile myoclonic epilepsy related to frontal lobe dysfunctions? A proton MRS study. Epilepsia 2009; 50:1201.
  39. de Araújo Filho GM, Jackowski AP, Lin K, et al. Personality traits related to juvenile myoclonic epilepsy: MRI reveals prefrontal abnormalities through a voxel-based morphometry study. Epilepsy Behav 2009; 15:202.
  40. Filho GM, Jackowski AP, Lin K, Silva I, M SBG, Guilhoto LM, et al. The integrity of corpus callosum and cluster B personality disorders: a quantitative MRI study in juvenile myoclonic epilepsy. Prog Neuropsychopharmacol Biol Psychiatry;34(3):516-21.
  41. Ciumas C, Wahlin TB, Jucaite A, et al. Reduced dopamine transporter binding in patients with juvenile myoclonic epilepsy. Neurology 2008; 71:788.
  42. Odano I, Varrone A, Savic I, Ciumas C, Karlsson P, Jucaite A, et al. Quantitative PET analyses of regional [(11)C]PE2I binding to the dopamine transporter - Application to juvenile myoclonic epilepsy. Neuroimage 2011.
  43. Landvogt C, Buchholz HG, Bernedo V, Schreckenberger M, Werhahn KJ. Alteration of dopamine D2/D3 receptor binding in patients with juvenile myoclonic epilepsy. Epilepsia;51(9):1699-706.
  44. Meschaks A, Lindstrom P, Halldin C, et al. Regional reductions in serotonin 1A receptor binding in juvenile myoclonic epilepsy. Arch Neurol 2005; 62:946.
  45. Usui N, Kotagal P, Matsumoto R, et al. Focal semiologic and electroencephalographic features in patients with juvenile myoclonic epilepsy. Epilepsia 2005; 46:1668.
  46. Panayiotopoulos CP, Obeid T, Waheed G. Absences in juvenile myoclonic epilepsy: a clinical and video-electroencephalographic study. Ann Neurol 1989; 25:391.
  47. Camfield CS, Camfield PR. Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study. Neurology 2009; 73:1041.
  48. Dziewas R, Kellinghaus C, Lüdemann P. Nonconvulsion status epilepticus in patients with juvenile myoclonic epilepsy: types and frequencies. Seizure 2002; 11:335.
  49. Larch J, Unterberger I, Bauer G, et al. Myoclonic status epilepticus in juvenile myoclonic epilepsy. Epileptic Disord 2009; 11:309.
  50. Matsuoka H, Takahashi T, Sasaki M, et al. The long-term course of seizure susceptibility in two patients with juvenile myoclonic epilepsy. Seizure 2002; 11:126.
  51. Chifari R, Piazzini A, Turner K, et al. Reflex writing seizures in two siblings with juvenile myoclonic epilepsy. Acta Neurol Scand 2004; 109:232.
  52. da Silva Sousa P, Lin K, Garzon E, et al. Language- and praxis-induced jerks in patients with juvenile myoclonic epilepsy. Epileptic Disord 2005; 7:115.
  53. Martínez-Juárez IE, Alonso ME, Medina MT, et al. Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up. Brain 2006; 129:1269.
  54. Pascalicchio TF, de Araujo Filho GM, da Silva Noffs MH, et al. Neuropsychological profile of patients with juvenile myoclonic epilepsy: a controlled study of 50 patients. Epilepsy Behav 2007; 10:263.
  55. Devinsky O, Gershengorn J, Brown E, et al. Frontal functions in juvenile myoclonic epilepsy. Neuropsychiatry Neuropsychol Behav Neurol 1997; 10:243.
  56. Piazzini A, Turner K, Vignoli A, et al. Frontal cognitive dysfunction in juvenile myoclonic epilepsy. Epilepsia 2008; 49:657.
  57. Iqbal N, Caswell HL, Hare DJ, et al. Neuropsychological profiles of patients with juvenile myoclonic epilepsy and their siblings: a preliminary controlled experimental video-EEG case series. Epilepsy Behav 2009; 14:516.
  58. Roebling R, Scheerer N, Uttner I, et al. Evaluation of cognition, structural, and functional MRI in juvenile myoclonic epilepsy. Epilepsia 2009; 50:2456.
  59. Wandschneider B, Kopp UA, Kliegel M, et al. Prospective memory in patients with juvenile myoclonic epilepsy and their healthy siblings. Neurology 2010; 75:2161.
  60. Swartz BE, Simpkins F, Halgren E, et al. Visual working memory in primary generalized epilepsy: an 18FDG-PET study. Neurology 1996; 47:1203.
  61. Trinka E, Kienpointner G, Unterberger I, et al. Psychiatric comorbidity in juvenile myoclonic epilepsy. Epilepsia 2006; 47:2086.
  62. de Araújo Filho GM, Pascalicchio TF, Sousa Pda S, et al. Psychiatric disorders in juvenile myoclonic epilepsy: a controlled study of 100 patients. Epilepsy Behav 2007; 10:437.
  63. Plattner B, Pahs G, Kindler J, et al. Juvenile myoclonic epilepsy: a benign disorder? Personality traits and psychiatric symptoms. Epilepsy Behav 2007; 10:560.
  64. Karachristianou S, Katsarou Z, Bostantjopoulou S, et al. Personality profile of patients with juvenile myoclonic epilepsy. Epilepsy Behav 2008; 13:654.
  65. Moschetta S, Fiore LA, Fuentes D, et al. Personality traits in patients with juvenile myoclonic epilepsy. Epilepsy Behav 2011; 21:473.
  66. de Araujo Filho GM, Pascalicchio TF, Lin K, et al. Neuropsychiatric profiles of patients with juvenile myoclonic epilepsy treated with valproate or topiramate. Epilepsy Behav 2006; 8:606.
  67. Gigli GL, Calia E, Luciani L, et al. Eye closure sensitivity without photosensitivity in juvenile myoclonic epilepsy: polysomnographic study of electroencephalographic epileptiform discharge rates. Epilepsia 1991; 32:677.
  68. Baise-Zung C, Guilhoto LM, Grossmann RM. Juvenile myoclonic epilepsy: non-classic electroencephalographical presentation in adult patients. Eur J Neurol 2006; 13:171.
  69. Gigli GL, Calia E, Marciani MG, et al. Sleep microstructure and EEG epileptiform activity in patients with juvenile myoclonic epilepsy. Epilepsia 1992; 33:799.
  70. Dhanuka AK, Jain BK, Daljit S, Maheshwari D. Juvenile myoclonic epilepsy: a clinical and sleep EEG study. Seizure 2001; 10:374.
  71. Panayiotopoulos CP, Obeid T, Tahan AR. Juvenile myoclonic epilepsy: a 5-year prospective study. Epilepsia 1994; 35:285.
  72. Appleton R, Beirne M, Acomb B. Photosensitivity in juvenile myoclonic epilepsy. Seizure 2000; 9:108.
  73. Aliberti V, Grünewald RA, Panayiotopoulos CP, Chroni E. Focal electroencephalographic abnormalities in juvenile myoclonic epilepsy. Epilepsia 1994; 35:297.
  74. Létourneau K, Cieuta-Walti C, Deacon C. Epileptiform asymetries and treatment response in juvenile myoclonic epilepsy. Can J Neurol Sci 2010; 37:826.
  75. Hrachovy RA, Frost JD Jr. The EEG in selected generalized seizures. J Clin Neurophysiol 2006; 23:312.
  76. Williamson R, Hanif S, Mathews GC, et al. Generalized-onset seizures with secondary focal evolution. Epilepsia 2009; 50:1827.
  77. Koutroumanidis M, Tsiptsios D, Kokkinos V, Lysitsas K, Tsiropoulos I. Generalized spike-wave discharges and seizures with focal ictal transformation: mechanisms in absence (CAE) and myoclonic (JME) IGEs. Epilepsia 2009;50(10):2326-9.
  78. Camfield PR, Camfield C. What criteria do adult and pediatric neurologists use to diagnose juvenile myoclonic epilepsy? Epilepsy Curr 2011; 12:1.154.
  79. Lancman ME, Asconapé JJ, Penry JK. Clinical and EEG asymmetries in juvenile myoclonic epilepsy. Epilepsia 1994; 35:302.
  80. Montalenti E, Imperiale D, Rovera A, et al. Clinical features, EEG findings and diagnostic pitfalls in juvenile myoclonic epilepsy: a series of 63 patients. J Neurol Sci 2001; 184:65.
  81. Grünewald RA, Chroni E, Panayiotopoulos CP. Delayed diagnosis of juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry 1992; 55:497.
  82. Panayiotopoulos CP, Tahan R, Obeid T. Juvenile myoclonic epilepsy: factors of error involved in the diagnosis and treatment. Epilepsia 1991; 32:672.
  83. Park KI, Lee SK, Chu K, et al. The value of video-EEG monitoring to diagnose juvenile myoclonic epilepsy. Seizure 2009; 18:94.
  84. Destina Yalçin A, Forta H, Kiliç E. Overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. Seizure 2006; 15:359.
  85. Taylor I, Marini C, Johnson MR, et al. Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap? Brain 2004; 127:1878.
  86. Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 2005; 4:239.
  87. Nicolson A, Appleton RE, Chadwick DW, Smith DF. The relationship between treatment with valproate, lamotrigine, and topiramate and the prognosis of the idiopathic generalised epilepsies. J Neurol Neurosurg Psychiatry 2004; 75:75.
  88. Marson AG, Al-Kharusi AM, Alwaidh M, et al. The SANAD study of effectiveness of valproate, lamotrigine, or topiramate for generalised and unclassifiable epilepsy: an unblinded randomised controlled trial. Lancet 2007; 369:1016.
  89. Bodenstein-Sachar H, Gandelman-Marton R, Ben-Zeev B, et al. Outcome of lamotrigine treatment in juvenile myoclonic epilepsy. Acta Neurol Scand 2011; 124:22.
  90. Verrotti A, Cerminara C, Coppola G, et al. Levetiracetam in juvenile myoclonic epilepsy: long-term efficacy in newly diagnosed adolescents. Dev Med Child Neurol 2008; 50:29.
  91. Specchio N, Boero G, Michelucci R, et al. Effects of levetiracetam on EEG abnormalities in juvenile myoclonic epilepsy. Epilepsia 2008; 49:663.
  92. Levisohn PM, Holland KD. Topiramate or valproate in patients with juvenile myoclonic epilepsy: a randomized open-label comparison. Epilepsy Behav 2007; 10:547.
  93. Biton V, Sackellares JC, Vuong A, et al. Double-blind, placebo-controlled study of lamotrigine in primary generalized tonic-clonic seizures. Neurology 2005; 65:1737.
  94. Kothare SV, Valencia I, Khurana DS, et al. Efficacy and tolerability of zonisamide in juvenile myoclonic epilepsy. Epileptic Disord 2004; 6:267.
  95. O'Rourke D, Flynn C, White M, et al. Potential efficacy of zonisamide in refractory juvenile myoclonic epilepsy: retrospective evidence from an Irish compassionate-use case series. Ir Med J 2007; 100:431.
  96. Marinas A, Villanueva V, Giráldez BG, et al. Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy. Epileptic Disord 2009; 11:61.
  97. Mantoan L, Walker M. Treatment options in juvenile myoclonic epilepsy. Curr Treat Options Neurol 2011; 13:355.
  98. Morris GL, Hammer AE, Kustra RP, Messenheimer JA. Lamotrigine for patients with juvenile myoclonic epilepsy following prior treatment with valproate: results of an open-label study. Epilepsy Behav 2004; 5:509.
  99. Biraben A, Allain H, Scarabin JM, Schuck S, Edan G. Exacerbation of juvenile myoclonic epilepsy with lamotrigine. Neurology 2000;55(11):1758.
  100. Kwan P, Brodie MJ. Early identification of refractory epilepsy. N Engl J Med 2000; 342:314.
  101. Noachtar S, Andermann E, Meyvisch P, et al. Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures. Neurology 2008; 70:607.
  102. Berkovic SF, Knowlton RC, Leroy RF, et al. Placebo-controlled study of levetiracetam in idiopathic generalized epilepsy. Neurology 2007; 69:1751.
  103. Rosenfeld WE, Benbadis S, Edrich P, et al. Levetiracetam as add-on therapy for idiopathic generalized epilepsy syndromes with onset during adolescence: analysis of two randomized, double-blind, placebo-controlled studies. Epilepsy Res 2009; 85:72.
  104. Kostov H, Larsson PG, Røste GK. Is vagus nerve stimulation a treatment option for patients with drug-resistant idiopathic generalized epilepsy? Acta Neurol Scand Suppl 2007; 187:55.
  105. Knott C, Panayiotopoulos CP. Carbamazepine in the treatment of generalised tonic clonic seizures in juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry 1994;57(4):503.
  106. Genton P, Gelisse P, Thomas P, Dravet C. Do carbamazepine and phenytoin aggravate juvenile myoclonic epilepsy? Neurology 2000; 55:1106.
  107. Baykan B, Altindag EA, Bebek N, et al. Myoclonic seizures subside in the fourth decade in juvenile myoclonic epilepsy. Neurology 2008; 70:2123.
  108. Geithner J, Schneider F, Wang Z, et al. Predictors for long-term seizure outcome in juvenile myoclonic epilepsy: 25-63 years of follow-up. Epilepsia 2012; 53:1379.
  109. Senf P, Schmitz B, Holtkamp M, Janz D. Prognosis of juvenile myoclonic epilepsy 45 years after onset: seizure outcome and predictors. Neurology 2013; 81:2128.
  110. Gelisse P, Genton P, Thomas P, et al. Clinical factors of drug resistance in juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry 2001; 70:240.
  111. Schneider-von Podewils F, Gasse C, Geithner J, et al. Clinical predictors of the long-term social outcome and quality of life in juvenile myoclonic epilepsy: 20-65 years of follow-up. Epilepsia 2014; 55:322.