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儿童失神癫痫

Author
Christian M Korff, MD
Section Editor
Douglas R Nordli, Jr, MD
Deputy Editor
April F Eichler, MD, MPH
Translators
吴德, 副主任医师

引言

儿童失神癫痫(childhood absence epilepsy, CAE)是一种常见的、可能与遗传病因相关的全面性癫痫综合征，其特点是其他方面健康的学龄期儿童出现典型失神发作(typical absence seizure, TAS)。CAE是儿科最常见的癫痫类型之一。

TAS表现为突然发作的严重意识障碍，但不伴有身体失张力。通常情况下由过度通气(hyperventilation, HV)所激发，并且与脑电图(electroencephalogram, EEG)上出现广泛性2.5-5Hz棘慢复合波电活动相对应。癫痫发作可能细微，即使每日多次发作，也常在较长时间内不被发现。

在大多数情况下，TAS是CAE中观察到的唯一癫痫发作类型，并且乙琥胺及其他广谱抗癫痫药对其治疗效果良好。在大多数患儿中，CAE到青春期早期时缓解，并且无严重后遗症，但一些患儿可能存在持续性认知或精神方面的共患病。

本文将讨论CAE的临床特征、诊断、治疗及预后。在儿童期起病的其他癫痫综合征将单独讨论。 (参见“Seizures and epilepsy in children: Classification, etiology, and clinical features”和“儿童癫痫综合征”和“青少年肌阵挛性癫痫”)

流行病学

CAE的年发病率估计数据来源于以白种人为主的一些研究。一项关于0-15岁瑞典儿童脑电图结果的回顾性分析中，“失神癫痫”的年发病率为6.3/100,000[1]。另一项基于对法国西南部癫痫发作患者进行问卷调查的报告指出，CAE的年发病率估计为8/100,000[2]。在一项纳入613例0-16岁癫痫患儿的前瞻性社区研究中，发现CAE占癫痫诊断的12%，是儿科癫痫最常见的类型之一[3,4]。

                  

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Literature review current through: 2017-07 . | This topic last updated: 2017-03-07.
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References
Top
  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, Bureau M, Genton P, Dravet C, Delgado-Escueta A, Tssinari C et al. (Eds), John Libbey Eurotext Ltd, 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.