1?对于新诊断为CAE的患儿，我们推荐乙琥胺为一线治疗药物，而不是丙戊酸或拉莫三嗪(Grade 1B)。乙琥胺的耐受性良好，并且治疗16周后，可使一半以上的患儿达到完全无癫痫发作状态。 (参见上文‘治疗’)?

2?避免使用的药物?—?某些抗癫痫药物可能加重CAE患者的失神发作，应避免使用。这些包括卡马西平、氨己烯酸、加巴喷丁和 ? ?噻加宾。已明确苯妥英和苯巴比妥对失神发作无效，也应避免使用[5]。 ? ? ? ?
? ? ? ?

3?难治性CAE的其他治疗选择包括：托吡酯[77]、苯二氮卓类[5]、乙酰唑胺[5]，以及多种形式的饮食疗法(例如，生酮饮食)[78]。一项研究显示，对6例存在难治性失神的CAE患儿采用迷走神经刺激可降低癫痫发作频率[79]。关于所有这些方法，均缺乏正式评估其有效性和副作用的试验[80]。 (参见"迷走神经刺激疗法治疗癫痫"和"生酮饮食") ? ? ? ?

治疗持续时间?—?大多数情况下，失神发作对一线药物治疗反应良好，并可在青春期前缓解。抗癫痫药治疗应至少持续到2年的无癫痫发作期。在此之后，可考虑逐步减少抗癫痫药的剂量至停药。 ? ?

预后?—?尽管CAE常被认为是一种良性癫痫，但长期随访的观察研究显示，CAE患儿的预后差异较大。然而，大部分差异可能与多年来的诊断分类差异有关，以及与纳入了一些最终进展至JME或癫痫发作缓解率较低的其他综合征的患者相关。如严格采用2005年ILAE标准，可识别出具有良好预后的更同质性亚组[ ? ? ? ?83]。 ? ?

CAE总体预后良好。在大多数病例中，癫痫发作对一线单药治疗反应良好，在青春期前缓解，并且无认知损害后遗症。 (参见上文‘预后’) ? ?

参考文献

1. Olsson I (1988) Epidemiology of absence epilepsy. I. Concept and incidence. Acta Paediatr Scand 77: 860-866.

2. Loiseau J, Loiseau P, Guyot M, Duche B, Dartigues JF, et al. (1990) Survey of seizure disorders in the French southwest. I. Incidence of epileptic syndromes. Epilepsia 31: 391-396.

3. Berg AT, Shinnar S, Levy SR, Testa FM, Smith-Rapaport S, et al. (2000) How well can epilepsy syndromes be identified at diagnosis? A reassessment 2 years after initial diagnosis. Epilepsia 41: 1269-1275.

4. Berg AT, Levy SR, Testa FM, Shinnar S (1999) Classification of childhood epilepsy syndromes in newly diagnosed epilepsy: interrater agreement and reasons for disagreement. Epilepsia 40: 439-444.

5. Medina M, Bureau M, Hirsch E, Panayiotopoulos C. Childhood absence epilepsy. In: Epileptic Syndromes in Infancy, Childhood and Adolescence, 5th ed, Bureau M, Genton P, Dravet C, et al (Eds), John Libbey Eurotext Ltd, London 2012. p.277.

6. Larsson K, Eeg-Olofsson O (2006) A population based study of epilepsy in children from a Swedish county. Eur J Paediatr Neurol 10: 107-113.

7. 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.

8. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 1989; 30:389.

9. Loiseau P, Duche B, Pedespan JM (1995) Absence epilepsies. Epilepsia 36: 1182-1186.

10. Corey LA, Pellock JM, Kjeldsen MJ, Nakken KO (2011) Importance of genetic factors in the occurrence of epilepsy syndrome type: a twin study. Epilepsy Res 97: 103-111.

11. Sugimoto Y, Morita R, Amano K, Fong CY, Shah PU, et al. (2000) Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map. Genomics 68: 264-272.

12. Fong GC, Shah PU, Gee MN, Serratosa JM, Castroviejo IP, et al. (1998) Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. Am J Hum Genet 63: 1117-1129.

13. Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, et al. (2012) NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. Hum Genet 131: 1217-1224.

14. Gurba KN, Hernandez CC, Hu N, Macdonald RL (2012) GABRB3 mutation, G32R, associated with childhood absence epilepsy alters alpha1beta3gamma2L gamma-aminobutyric acid type A (GABAA) receptor expression and channel gating. J Biol Chem 287: 12083-12097.

15. Hernandez CC, Gurba KN, Hu N, Macdonald RL (2011) The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6beta22 and 6beta2 GABA(A) receptor channel gating and expression. J Physiol 589: 5857-5878.

16. Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, et al. (2008) Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet 82: 1249-1261.

17. Urak L, Feucht M, Fathi N, Hornik K, Fuchs K (2006) A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. Hum Mol Genet 15: 2533-2541.

18. Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, et al. (2006) A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol 59: 983-987.

19. Robinson R, Taske N, Sander T, Heils A, Whitehouse W, et al. (2002) Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. Epilepsy Res 48: 169-179.

20. Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, et al. (2001) Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 28: 49-52.

21. Feucht M, Fuchs K, Pichlbauer E, Hornik K, Scharfetter J, et al. (1999) Possible association between childhood absence epilepsy and the gene encoding GABRB3. Biol Psychiatry 46: 997-1002.

22. Yalcin O (2012) Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies. Seizure 21: 79-86.

23. Everett KV, Chioza B, Aicardi J, Aschauer H, Brouwer O, et al. (2007) Linkage and association analysis of CACNG3 in childhood absence epilepsy. Eur J Hum Genet 15: 463-472.

24. Vitko I, Bidaud I, Arias JM, Mezghrani A, Lory P, et al. (2007) The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations. J Neurosci 27: 322-330.

25. Liang J, Zhang Y, Chen Y, Wang J, Pan H, et al. (2007) Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population. Ann Hum Genet 71: 325-335.

26. Liang J, Zhang Y, Wang J, Pan H, Wu H, et al. (2006) New variants in the CACNA1H gene identified in childhood absence epilepsy. Neurosci Lett 406: 27-32.

27. Chen Y, Lu J, Pan H, Zhang Y, Wu H, et al. (2003) Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol 54: 239-243.

28. Everett K, Chioza B, Aicardi J, Aschauer H, Brouwer O, et al. (2007) Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. Epilepsy Res 75: 145-153.

29. Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, et al. (2003) Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 33: 527-532.

30. Kananura C, Haug K, Sander T, Runge U, Gu W, et al. (2002) A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol 59: 1137-1141.

31. Wang J, Zhang Y, Liang J, Pan H, Wu H, et al. (2006) CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population. Pediatr Neurol 35: 187-190.

32. Chen Y, Lu J, Zhang Y, Pan H, Wu H, et al. (2003) T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population. Neurosci Lett 341: 29-32.

33. Chioza B, Everett K, Aschauer H, Brouwer O, Callenbach P, et al. (2006) Evaluation of CACNA1H in European patients with childhood absence epilepsy. Epilepsy Res 69: 177-181.

34. Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, et al. (2012) Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Ann Neurol 72: 807-815.

35. Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, et al. (2009) Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 66: 415-419.

36. Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE (2010) Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 75: 432-440.

37. Muhle H, Helbig I, Froslev TG, Suls A, von Spiczak S, et al. (2013) The role of SLC2A1 in early onset and childhood absence epilepsies. Epilepsy Res 105: 229-233.

38. Byrne S, Kearns J, Carolan R, Mc Menamin J, Klepper J, et al. (2011) Refractory absence epilepsy associated with GLUT-1 deficiency syndrome. Epilepsia 52: 1021-1024.

39. Agostinelli S, Traverso M, Accorsi P, Beccaria F, Belcastro V, et al. (2013) Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. Eur J Neurol 20: 856-859.

40. van Luijtelaar G, Hramov A, Sitnikova E, Koronovskii A (2011) Spike-wave discharges in WAG/Rij rats are preceded by delta and theta precursor activity in cortex and thalamus. Clin Neurophysiol 122: 687-695.

41. van Luijtelaar G, Sitnikova E, Littjohann A (2011) On the origin and suddenness of absences in genetic absence models. Clin EEG Neurosci 42: 83-97.

42. Tenney JR, Fujiwara H, Horn PS, Jacobson SE, Glauser TA, et al. (2013) Focal corticothalamic sources during generalized absence seizures: A MEG study. Epilepsy Res.

43. Berman R, Negishi M, Vestal M, Spann M, Chung MH, et al. (2010) Simultaneous EEG, fMRI, and behavior in typical childhood absence seizures. Epilepsia 51: 2011-2022.

44. Bai X, Vestal M, Berman R, Negishi M, Spann M, et al. (2010) Dynamic time course of typical childhood absence seizures: EEG, behavior, and functional magnetic resonance imaging. J Neurosci 30: 5884-5893.

45. Masterton RA, Carney PW, Abbott DF, Jackson GD (2013) Absence epilepsy subnetworks revealed by event-related independent components analysis of functional magnetic resonance imaging. Epilepsia 54: 801-808.

46. Crunelli V, Leresche N, Cope DW. GABA-A Receptor Function in Typical Absence Seizures. In: Jasper's Basic Mechanisms of the Epilepsies, 4th, Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV (Eds), Bethesda 2012.

47. Sadleir LG, Farrell K, Smith S, Connolly MB, Scheffer IE (2006) Electroclinical features of absence seizures in childhood absence epilepsy. Neurology 67: 413-418.

48. Wirrell EC, Camfield CS, Camfield PR, Gordon KE, Dooley JM (1996) Long-term prognosis of typical childhood absence epilepsy: remission or progression to juvenile myoclonic epilepsy. Neurology 47: 912-918.

49. Panayiotopoulos C. Absence epilepsies. In: Epilepsy: a comprehensive textbook, Engel Jr. J, Pedley T (Eds), Lippincott-Raven, Philadelphia 1997. p.2327.

50. Callenbach PM, Bouma PA, Geerts AT, Arts WF, Stroink H, et al. (2009) Long-term outcome of childhood absence epilepsy: Dutch Study of Epilepsy in Childhood. Epilepsy Res 83: 249-256.

51. Jackson DC, Dabbs K, Walker NM, Jones JE, Hsu DA, et al. (2013) The neuropsychological and academic substrate of new/recent-onset epilepsies. J Pediatr 162: 1047-1053 e1041.

52. Conant LL, Wilfong A, Inglese C, Schwarte A (2010) Dysfunction of executive and related processes in childhood absence epilepsy. Epilepsy Behav 18: 414-423.

53. Caplan R, Siddarth P, Stahl L, Lanphier E, Vona P, et al. (2008) Childhood absence epilepsy: behavioral, cognitive, and linguistic comorbidities. Epilepsia 49: 1838-1846.

54. Berg AT, Langfitt JT, Testa FM, Levy SR, DiMario F, et al. (2008) Global cognitive function in children with epilepsy: a community-based study. Epilepsia 49: 608-614.

55. Berg AT, Langfitt JT, Testa FM, Levy SR, DiMario F, et al. (2008) Residual cognitive effects of uncomplicated idiopathic and cryptogenic epilepsy. Epilepsy Behav 13: 614-619.

56. Berg AT, Smith SN, Frobish D, Levy SR, Testa FM, et al. (2005) Special education needs of children with newly diagnosed epilepsy. Dev Med Child Neurol 47: 749-753.

57. Vega C, Vestal M, DeSalvo M, Berman R, Chung M, et al. (2010) Differentiation of attention-related problems in childhood absence epilepsy. Epilepsy Behav 19: 82-85.

58. Vega C, Guo J, Killory B, Danielson N, Vestal M, et al. (2011) Symptoms of anxiety and depression in childhood absence epilepsy. Epilepsia 52: e70-74.

59. Masur D, Shinnar S, Cnaan A, et al. Pretreatment cognitive deficits and treatment effects on attention in childhood absence epilepsy. Neurology 2013; 81:1572.

60. Cerminara C, D'Agati E, Casarelli L, Kaunzinger I, Lange KW, et al. (2013) Attention impairment in childhood absence epilepsy: an impulsivity problem? Epilepsy Behav 27: 337-341.

61. Dlugos D, Shinnar S, Cnaan A, et al. Pretreatment EEG in childhood absence epilepsy: associations with attention and treatment outcome. Neurology 2013; 81:150.

62. Dlugos D, Shinnar S, Cnaan A, Hu F, Moshe S, et al. (2013) Pretreatment EEG in childhood absence epilepsy: Associations with attention and treatment outcome. Neurology 81: 150-156.

63. Mariani E, Rossi LN, Vajani S (2011) Interictal paroxysmal EEG abnormalities in childhood absence epilepsy. Seizure 20: 299-304.

64. Yoshinaga H, Ohtsuka Y, Tamai K, Tamura I, Ito M, et al. (2004) EEG in childhood absence epilepsy. Seizure 13: 296-302.

65. Lagae L, Pauwels J, Monte CP, Verhelle B, Vervisch I (2001) Frontal absences in children. Eur J Paediatr Neurol 5: 243-251.

66. Chan CH, Briellmann RS, Pell GS, Scheffer IE, Abbott DF, et al. (2006) Thalamic atrophy in childhood absence epilepsy. Epilepsia 47: 399-405.

67. Caplan R, Levitt J, Siddarth P, Wu KN, Gurbani S, et al. (2009) Frontal and temporal volumes in Childhood Absence Epilepsy. Epilepsia 50: 2466-2472.

68. Schreibman Cohen A, Daley M, Siddarth P, Levitt J, Loesch IK, et al. (2009) Amygdala volumes in childhood absence epilepsy. Epilepsy Behav 16: 436-441.

69. Agostinelli S, Accorsi P, Beccaria F, et al. Clinical dissection of early onset absence epilepsy in children and prognostic implications. Epilepsia 2013; 54:1761.

70. Mullen SA, Suls A, De Jonghe P, et al. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010; 75:432.

71. Striano P, Weber YG, Toliat MR, et al. GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology 2012; 78:557.

72. Verrotti A, D'Egidio C, Agostinelli S, Gobbi G. Glut1 deficiency: when to suspect and how to diagnose? Eur J Paediatr Neurol 2012; 16:3.

73. Pascual JM, Liu P, Mao D, et al. Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA Neurol 2014; 71:1255.

74. Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, et al. (2010) Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 51: 676-685.

75. Glauser TA, Cnaan A, Shinnar S, Hirtz DG, Dlugos D, et al. (2010) Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. N Engl J Med 362: 790-799.

76. Glauser TA, Cnaan A, Shinnar S, Hirtz DG, Dlugos D, et al. (2013) Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: initial monotherapy outcomes at 12 months. Epilepsia 54: 141-155.

77. Cross JH (2002) Topiramate monotherapy for childhood absence seizures: an open label pilot study. Seizure 11: 406-410.

78. Groomes LB, Pyzik PL, Turner Z, Dorward JL, Goode VH, et al. (2011) Do patients with absence epilepsy respond to ketogenic diets? J Child Neurol 26: 160-165.

79. Arya R, Greiner HM, Lewis A, Mangano FT, Gonsalves C, et al. (2013) Vagus nerve stimulation for medically refractory absence epilepsy. Seizure 22: 267-270.

80. Glauser T, Ben-Menachem E, Bourgeois B, Cnaan A, Guerreiro C, et al. (2013) Updated ILAE evidence review of antiepileptic drug efficacy and effectiveness as initial monotherapy for epileptic seizures and syndromes. Epilepsia 54: 551-563.

81. Verrotti A, Cerminara C, Domizio S, Mohn A, Franzoni E, et al. (2008) Levetiracetam in absence epilepsy. Dev Med Child Neurol 50: 850-853.

82. Auvin S, Chhun S, Berquin P, Ponchel E, Delanoe C, et al. (2011) Aggravation of absence seizure related to levetiracetam. Eur J Paediatr Neurol 15: 508-511.

83. Grosso S, Galimberti D, Vezzosi P, Farnetani M, Di Bartolo RM, et al. (2005) Childhood absence epilepsy: evolution and prognostic factors. Epilepsia 46: 1796-1801.

84.