临床儿科杂志 ›› 2025, Vol. 43 ›› Issue (5): 395-402.doi: 10.12372/jcp.2025.24e0352
• 文献综述 • 上一篇
收稿日期:
2024-04-16
录用日期:
2024-08-19
出版日期:
2025-05-15
发布日期:
2025-05-09
通讯作者:
李玲 电子信箱:
ZHANG Zhijie, XU Danfeng, LI Ling()
Received:
2024-04-16
Accepted:
2024-08-19
Published:
2025-05-15
Online:
2025-05-09
摘要:
近几十年来,随着多种神经元抗体的发现以及对免疫介导各种综合征的发病机制认识的不断提高,自身免疫性癫痫领域有了巨大进步。相当一部分病因不明的癫痫患者已被证实是由自身免疫引起的。儿童自身免疫性癫痫多继发于自身免疫性脑炎,其临床表现多样,以癫痫发作为首要症状,多合并有认知功能障碍、睡眠障碍、言语障碍以及神经精神症状。诊断通常基于临床特征、核磁共振成像结果和脑脊液分析,神经特异性抗体检测是诊断的重要组成部分。治疗方法包括免疫治疗、去除免疫诱因(如肿瘤)以及抗癫痫发作药物等对症治疗。早期启动免疫治疗可有效控制癫痫发作频率并改善认知能力。
张智杰, 徐丹凤, 李玲. 儿童自身免疫性癫痫研究进展[J]. 临床儿科杂志, 2025, 43(5): 395-402.
ZHANG Zhijie, XU Danfeng, LI Ling. Progress in pediatric autoimmune epilepsy[J]. Journal of Clinical Pediatrics, 2025, 43(5): 395-402.
[1] | Ong MS, Kohane IS, Cai T, et al. Population-level evidence for an autoimmune etiology of epilepsy[J]. JAMA Neurol, 2014, 71(5): 569-574. |
[2] |
Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology[J]. Epilepsia, 2017, 58(4): 512-521.
doi: 10.1111/epi.13709 pmid: 28276062 |
[3] | Andzelm MM, Stredny CM. Mechanisms and emerging therapies for treatment of seizures in pediatric autoimmune encephalitis and autoinflammatory/autoimmune-associated epilepsy[J]. Rheum Dis Clin North Am, 2023, 49(4): 875-893. |
[4] | Gong X, Chen C, Liu X, et al. Long-term functional outcomes and relapse of anti-NMDA receptor encephalitis: a cohort study in Western China[J]. Neurol Neuroimmunol Neuroinflamm, 2021, 8(2): e958. |
[5] |
Dubey D, Alqallaf A, Hays R, et al. Neurological autoantibody prevalence in epilepsy of unknown etiology[J]. JAMA Neurol, 2017, 74(4): 397-402.
doi: 10.1001/jamaneurol.2016.5429 pmid: 28166327 |
[6] |
Dubey D, Singh J, Britton JW, et al. Predictive models in the diagnosis and treatment of autoimmune epilepsy[J]. Epilepsia, 2017, 58(7): 1181-1189.
doi: 10.1111/epi.13797 pmid: 28555833 |
[7] |
Fujinami RS, von Herrath MG, Christen U, et al. Molecular mimicry, bystander activation, or viral persistence: infections and autoimmune disease[J]. Clin Microbiol Rev, 2006, 19(1): 80-94.
doi: 10.1128/CMR.19.1.80-94.2006 pmid: 16418524 |
[8] |
Vezzani A, Fujinami RS, White HS, et al. Infections, inflammation and epilepsy[J]. Acta Neuropathol, 2016, 131(2): 211-234.
doi: 10.1007/s00401-015-1481-5 pmid: 26423537 |
[9] | Levite M, Goldberg H. Autoimmune epilepsy - novel multidisciplinary analysis, discoveries and insights[J]. Front Immunol, 2022, 12: 762743. |
[10] |
Garg D, Mohammad SS, Sharma S. Autoimmune encephalitis in children: an update[J]. Indian Pediatr, 2020, 57(7): 662-670.
pmid: 32727942 |
[11] | Wesselingh R, Broadley J, Buzzard K, et al. Prevalence, risk factors, and prognosis of drug-resistant epilepsy in autoimmune encephalitis[J]. Epilepsy Behav, 2022, 132: 108729. |
[12] | Villasana-Salazar B, Vezzani A. Neuroinflammation microenvironment sharpens seizure circuit[J]. Neurobiol Dis, 2023, 178: 106027. |
[13] |
Roseti C, van Vliet EA, Cifelli P, et al. GABAA currents are decreased by IL-1β in epileptogenic tissue of patients with temporal lobe epilepsy: implications for ictogenesis[J]. Neurobiol Dis, 2015, 82: 311-320.
doi: S0969-9961(15)30008-5 pmid: 26168875 |
[14] |
Steriade C, Britton J, Dale RC, et al. Acute symptomatic seizures secondary to autoimmune encephalitis and autoimmune-associated epilepsy: conceptual definitions[J]. Epilepsia, 2020, 61(7): 1341-1351.
doi: 10.1111/epi.16571 pmid: 32544279 |
[15] | Shen CH, Fang GL, Yang F, et al. Seizures and risk of epilepsy in anti-NMDAR, anti-LGI1, and anti-GABAB R encephalitis[J]. Ann Clin Transl Neurol, 2020, 7(8): 1392-1399. |
[16] |
Geis C, Planagumà J, Carreño M, et al. Autoimmune seizures and epilepsy[J]. J Clin Invest, 2019, 129(3): 926-940.
doi: 10.1172/JCI125178 pmid: 30714986 |
[17] | 吴春锦. 儿童自身免疫性脑炎临床特点及继发免疫相关性癫痫危险因素分析[D]. 南方医科大学, 2024. |
[18] |
Steriade C, Gillinder L, Rickett K, et al. Discerning the role of autoimmunity and autoantibodies in epilepsy: a review[J]. JAMA Neurol, 2021, 78(11): 1383-1390.
doi: 10.1001/jamaneurol.2021.3113 pmid: 34515743 |
[19] | Budhram A, Burneo JG. Acute symptomatic seizures, epilepsy, and autoimmune encephalitis: clarifying terminology in neural antibody‐associated disease[J]. Epilepsia, 2023, 64(2): 306-310. |
[20] | Panda PK, Ramachandran A, Sharawat IK, et al. Performance of a pediatric adaptation of the RITE2 and APE2 scores in children with autoimmune epilepsy: P-RITE2 and P-APE2 scores[J]. Seizure, 2022, 103: 11-17. |
[21] |
Dubey D, Kothapalli N, McKeon A, et al. Predictors of neural-specific autoantibodies and immunotherapy response in patients with cognitive dysfunction[J]. J Neuroimmunol, 2018, 323: 62-72.
doi: S0165-5728(18)30283-2 pmid: 30196836 |
[22] |
Rogers SW, Andrews PI, Gahring LC, et al. Autoantibodies to glutamate receptor GluR3 in Rasmussen's encephalitis[J]. Science, 1994, 265(5172): 648-651.
pmid: 8036512 |
[23] | Lee WJ, Lee HS, Kim DY, et al. Seronegative autoimmune encephalitis: clinical characteristics and factors associated with outcomes[J]. Brain, 2022, 145(10): 3509-3521. |
[24] | Rodriguez A, Klein CJ, Sechi E, et al. LGI1 antibody encephalitis: acute treatment comparisons and outcome[J]. J Neurol Neurosurg Psychiatry, 2022, 93(3): 309-315. |
[25] | Seery N, Butzkueven H, O'Brien TJ, et al. Contemporary advances in anti-NMDAR antibody (Ab)-mediated encephalitis[J]. Autoimmun Rev, 2022, 21(4): 103057. |
[26] | Li X, Guo Q, Zheng Z, et al. Immune-mediated epilepsy with GAD65 antibodies[J]. J Neuroimmunol, 2020, 341: 577189. |
[27] | Cellucci T, Van Mater H, Graus F, et al. Clinical approach to the diagnosis of autoimmune encephalitis in the pediatric patient[J]. Neurol Neuroimmunol Neuroinflamm, 2020, 7(2): e663. |
[28] | de Bruijn MAAM, van Sonderen A, van Coevorden-Hameete MH, et al. Evaluation of seizure treatment in anti-LGI1, anti-NMDAR, and anti-GABABR encephalitis[J]. Neurology, 2019, 92(19): e2185-e2196. |
[29] | Liu X, Guo K, Lin J, et al. Long-term seizure outcomes in patients with autoimmune encephalitis: a prospective observational registry study update[J]. Epilepsia, 2022, 63(7): 1812-1821. |
[30] | Nissen MS, Ryding M, Meyer M, et al. Autoimmune encephalitis: current knowledge on subtypes, disease mechanisms and treatment[J]. CNS Neurol Disord Drug Targets, 2020, 19(8): 584-598. |
[31] |
Boangher S, Mespouille P, Goffette S, et al. Herpes simplex encephalitis relapse associated with positive N-methyl-D-aspartate receptor antibodies[J]. Acta Neurol Belg, 2018, 118(4): 533-535.
doi: 10.1007/s13760-018-0897-9 pmid: 29450730 |
[32] |
Liu X, Yan B, Wang R, et al. Seizure outcomes in patients with anti-NMDAR encephalitis: a follow-up study[J]. Epilepsia, 2017, 58(12): 2104-2111.
doi: 10.1111/epi.13929 pmid: 29098690 |
[33] | Wegener-Panzer A, Cleaveland R, Wendel EM, et al. Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies[J]. Neurol Neuroimmunol Neuroinflamm, 2020, 7(4): e731. |
[34] | Vega E, Arrambide G, Olivé G, et al. Non-ADEM encephalitis in patients with myelin oligodendrocyte glycoprotein antibodies: a systematic review[J]. Eur J Neurol, 2023, 30(5): 1515-1527. |
[35] | Zhou J, Lu X, Zhang Y, et al. Follow-up study on Chinese children with relapsing MOG-IgG-associated central nervous system demyelination[J]. Mult Scler Relat Disord, 2019, 28: 4-10. |
[36] |
Ramanathan S, Mohammad S, Tantsis E, et al. Clinical course, therapeutic responses and outcomes in relapsing MOG antibody-associated demyelination[J]. J Neurol Neurosurg Psychiatry, 2018, 89(2): 127-137.
doi: 10.1136/jnnp-2017-316880 pmid: 29142145 |
[37] | Nosadini M, Toldo I, Tascini B, et al. LGI1 and CASPR2 autoimmunity in children: systematic literature review and report of a young girl with Morvan syndrome[J]. J Neuroimmunol, 2019, 335: 577008. |
[38] | Figlerowicz M, Kemnitz P, Mania A, et al. Autoimmune encephalitis with GABAA receptor antibodies in a 10-year-old girl[J]. Clin Neurol Neurosurg, 2018. 164: 160-163. |
[39] | Spatola M, Petit-Pedrol M, Simabukuro MM, et al. Investigations in GABAA receptor antibody-associated encephalitis[J]. Neurology, 2017, 88(11): 1012-1020. |
[40] |
Petit-Pedrol M, Armangue T, Peng X, et al. Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies[J]. Lancet Neurol, 2014, 13(3): 276-286.
doi: 10.1016/S1474-4422(13)70299-0 pmid: 24462240 |
[41] | Budhram A, Sechi E, Flanagan EP, et al. Clinical spectrum of high-titre GAD65 antibodies[J]. J Neurol Neurosurg Psychiatry, 2021, 92(6): 645-654. |
[42] | Chen LW, Guasp M, Olivé-Cirera G, et al. Antibody investigations in 2,750 children with suspected autoimmune encephalitis[J]. Neurol Neuroimmunol Neuroinflamm, 2023, 11(1): e200182. |
[43] | Budhram A, Sharma M, Young GB. Seizures in anti-Hu-associated extra-limbic encephalitis: characterization of a unique disease manifestation[J]. Epilepsia, 2022, 63(12): e172-e177. |
[44] |
Olson HE, Lechpammer M, Prabhu SP, et al. Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis[J]. Epilepsia, 2013, 54(10): 1753-1760.
doi: 10.1111/epi.12334 pmid: 23980696 |
[45] |
Sundar SJ, Lu E, Schmidt ES, et al. Seizure outcomes and reoperation in surgical Rasmussen encephalitis patients[J]. Neurosurgery, 2022, 91(1): 93-102.
doi: 10.1227/neu.0000000000001958 pmid: 35544031 |
[46] |
Farias-Moeller R, Bartolini L, Staso K, et al. Early ictal and interictal patterns in FIRES: the sparks before the blaze[J]. Epilepsia, 2017, 58(8): 1340-1348.
doi: 10.1111/epi.13801 pmid: 28555777 |
[47] | Wickstrom R, Taraschenko O, Dilena R, et al. International consensus recommendations for management of New Onset Refractory Status Epilepticus (NORSE) including Febrile Infection-Related Epilepsy Syndrome (FIRES): Summary and Clinical Tools[J]. Epilepsia, 2022, 63(11): 2827-2839. |
[48] | Lai YC, Muscal E, Wells E, et al. Anakinra usage in febrile infection related epilepsy syndrome: an international cohort[J]. Ann Clin Transl Neurol, 2020, 7(12): 2467-2474. |
[49] | Guerin J, Watson RE, Carr CM, et al. Autoimmune epilepsy: findings on MRI and FDG-PET[J]. Br J Radiol, 2019, 92(1093): 20170869. |
[50] | Byun JI, Lee ST, Jung KH, et al. Effect of immunotherapy on seizure outcome in patients with autoimmune encephalitis: a prospective observational registry study[J]. PLoS One, 2016, 11(1): e0146455. |
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