- Department of Neurology, Jiangxi Children's Hospital, NanChang 330006, China;
Infantile epileptic spasm syndrome (IESS) is an age-dependent epileptic encephalopathy that onset within 3 ~ 12 months. Commonly used Anti-seizure medications (ASMs) have poor efficacy, low long-term control rate and high recurrence rate, and often leave behind sequelae such as developmental delay/intellectual disability, and autism spectrum disorders. At present, the first-line recommended treatments for IESS are Adrenocorticotropic hormone (ACTH), adrenocortical hormone and vigabatrin. If ineffective, other ASMs, ketogenic diets, and surgical treatments can be tried. This article will provide a review of the current status and related clinical applications of IESS treatment.
Citation: ZHAO Kaoming, YI Zhaoshi, ZHONG Jianmin. Current status of treatment for infantile epileptic spasm syndrome. Journal of Epilepsy, 2024, 10(4): 332-339. doi: 10.7507/2096-0247.202405002 Copy
1. | Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 2022, 63(6): 1349-1397. |
2. | 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(4): 676-685. |
3. | Srivastava K, Agarwal E, Rajadhyaksha S, et al. Significant treatment gap and co-morbidities identified in an epidemiological survey of pediatric epilepsy in rural suburbs of India. Seizure, 2021, 91: 417-424. |
4. | Jia JL, Chen S, Sivarajah V, et al. Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis. Orphanet J Rare Dis, 2018, 13(1): 216. |
5. | Jiang Y, Zou N, Luo Y, et al. Cohort study of infantile epileptic spasms syndrome: etiological analysis and treatment of corticosteroids. Seizure, 2022, 101: 120-126. |
6. | Peng P, Kessi M, Mao L, et al. Etiologic classification of 541 infantile spasms cases: a cohort study. Front Pediatr, 2022, 10: 774828. |
7. | Meng Y, Geng G, Ren Y, et al. Long-term outcome of adrenocorticotropic hormone therapy in children with new-onset infantile spasms. Pediatr Neurol, 2023, 143: 100-105. |
8. | Wilmshurst JM, Gaillard WD, Vinayan KP, et al. Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics. Epilepsia, 2015, 56(8): 1185-1197. |
9. | Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a U. S. consensus report. Epilepsia, 2010, 51(10): 2175-2189. |
10. | Banerjee A, Sahu JK, Sankhyan N, et al. Randomized trial of high-dose pyridoxine in combination with standard hormonal therapy in West syndrome. Seizure, 2021, 91: 75-80. |
11. | Li S, Zhong X, Hong S, et al. Prednisolone/prednisone as adrenocorticotropic hormone alternative for infantile spasms: a meta-analysis of randomized controlled trials. Dev Med Child Neurol, 2020, 62(5): 575-580. |
12. | Sumanasena SP, Wanigasinghe J, Arambepola C, et al. Effect of intramuscular ACTH versus oral prednisolone on the developmental trajectories of children with West syndrome over 24 months: a randomised control study. Eur J Paediatr Neurol, 2021, 32: 98-105. |
13. | 罗可人, 唐军, 母得志. 泼尼松龙与促肾上腺糖皮质激素治疗婴儿痉挛症的Meta分析. 中国当代儿科杂志, 2019, 21(7): 656-662. |
14. | Brunson KL, Avishai-Eliner S, Baram TZ. ACTH treatment of infantile spasms: mechanisms of its effects in modulation of neuronal excitability. Int Rev Neurobiol, 2002, 49: 185-197. |
15. | 黄茜, 彭镜, 潘邹, 等. 首次促肾上腺皮质激素治疗婴儿癫痫痉挛综合征疗效的影响因素分析. 中国当代儿科杂志, 2023, 25(1): 60-66. |
16. | Duchowny MS, Chopra I, Niewoehner J, et al. A systematic literature review and indirect treatment comparison of efficacy of repository corticotropin injection versus synthetic adrenocorticotropic hormone for infantile spasms. J Health Econ Outcomes Res, 2021, 8(1): 1-9. |
17. | Zhu HM, Yuan CH, Luo MQ, et al. Safety and effectiveness of oral methylprednisolone therapy in comparison with intramuscular adrenocorticotropic hormone and oral prednisolone in children with infantile spasms. Front Neurol, 2021, 12: 756746. |
18. | Osborne JP, Edwards SW, Alber FD, et al. Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials. Eur J Paediatr Neurol, 2023, 42: 110-116. |
19. | Paprocka J, Malkiewicz J, Palazzo-Michalska V, et al. Effectiveness of ACTH in patients with infantile spasms. Brain Sci, 2022, 12(2). |
20. | Wan L, Lei YQ, Liu XT, et al. Assessing risk for relapse among children with infantile spasms using the based score after ACTH treatment: a retrospective study. Neurol Ther, 2022, 11(2): 835-849. |
21. | Guang S, Mao L, Zhong L, et al. Hormonal therapy for infantile spasms: a systematic review and meta-analysis. Front Neurol, 2022, 13: 772333. |
22. | Shao LR, Stafstrom CE. Pediatric epileptic encephalopathies: pathophysiology and animal models. Semin Pediatr Neurol, 2016, 23(2): 98-107. |
23. | Hancock E, Osborne J. Treatment of infantile spasms with high-dose oral prednisolone. Dev Med Child Neurol, 1998, 40(7): 500. |
24. | Basit A, Noreen N, Saleem SF, et al. Comparison of efficacy and safety of low- versus high-dose oral prednisolone in infantile spasm (IS): an open label randomized controlled trial at the Children's Hospital & Institute of Child Health, Multan, Pakistan. Cureus, 2022, 14(3): e23164. |
25. | Lux AL, Edwards SW, Hancock E, et al. The United Kingdom infantile spasms study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial. Lancet, 2004, 364(9447): 1773-1778. |
26. | O'Callaghan FJ, Edwards SW, Alber FD, et al. Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. Lancet Neurol, 2017, 16(1): 33-42. |
27. | 陈辉, 钟建民, 易招师, 等. 泼尼松治疗婴儿痉挛症的免疫机制研究. 中国当代儿科杂志, 2017, 19(10): 1044-1050. |
28. | Riikonen R. Infantile spasms: outcome in clinical studies. Pediatr Neurol, 2020, 108: 54-64. |
29. | 易招师, 查剑, 吴华平, 等. 婴儿痉挛症缓解后复发的危险因素. 中华实用儿科临床杂志, 2016, 31(12): 899-902. |
30. | 查剑, 曾兴颖, 易招师, 等. 大剂量泼尼松治疗婴儿痉挛症的优化方案. 癫痫杂志, 2017, 3(3): 193-198. |
31. | Kapoor D, Sharma S, Garg D, et al. Intravenous methylprednisolone versus oral prednisolone for west syndrome: a randomized open-label trial. Indian J Pediatr, 2021, 88(8): 778-784. |
32. | Deswal M, Lekhwani S, Vaswani ND, et al. Oral dexamethasone versus prednisolone for management of children with west syndrome: an open-labeled randomized controlled pilot trial. Ann Indian Acad Neurol, 2022, 25(5): 916-920. |
33. | Yi Z, Wu H, Yu X, et al. High-dose prednisone therapy for infantile spasms and late-onset epileptic spasms in China: The addition of topiramate provides no benefit. Seizure, 2019, 71: 174-178. |
34. | Rajaraman RR, Lay J, Alayari A, et al. Prevention of infantile spasms relapse: Zonisamide and topiramate provide no benefit. Epilepsia, 2016, 57(8): 1280-1287. |
35. | Willmore LJ, Abelson MB, Ben-Menachem E, et al. Vigabatrin: 2008 update. Epilepsia, 2009, 50(2): 163-173. |
36. | Yang J, Shen J. Elevated endogenous GABA concentration attenuates glutamate-glutamine cycling between neurons and astroglia. J Neural Transm (Vienna), 2009, 116(3): 291-300. |
37. | Griffith JL, Wong M. The mTOR pathway in treatment of epilepsy: a clinical update. Future Neurol, 2018, 13(2): 49-58. |
38. | Knupp KG, Coryell J, Singh RK, et al. Comparison of cosyntropin, vigabatrin, and combination therapy in new-onset infantile spasms in a prospective randomized trial. J Child Neurol, 2022, 37(3): 186-193. |
39. | Prezioso G, Chiarelli F, Matricardi S. Efficacy and safety of vigabatrin in patients with tuberous sclerosis complex and infantile epileptic spasm syndrome: a systematic review. Expert Rev Neurother, 2023, 23(7): 661-671. |
40. | Grinspan ZM, Knupp KG, Patel AD, et al. Comparative effectiveness of initial treatment for infantile spasms in a contemporary US cohort. Neurology, 2021, 97(12): e1217-e1228. |
41. | Al-Shehhi W, Chau V, Boyd J, et al. Treatment with high-dose prednisolone in vigabatrin-refractory infantile spasms. Can J Neurol Sci, 2022, 49(4): 532-539. |
42. | Biswas A, Yossofzai O, Vincent A, et al. Vigabatrin-related adverse events for the treatment of epileptic spasms: systematic review and meta-analysis. Expert Rev Neurother, 2020, 20(12): 1315-1324. |
43. | Westall CA, Wright T, Cortese F, et al. Vigabatrin retinal toxicity in children with infantile spasms: An observational cohort study. Neurology, 2014, 83(24): 2262-2268. |
44. | Xu Y, Wan L, He W, et al. Risk of vigabatrin-associated brain abnormalities on MRI: a retrospective and controlled study. Epilepsia, 2022, 63(1): 120-129. |
45. | Bhalla S, Skjei K. Fulminant vigabatrin toxicity during combination therapy with adrenocorticotropic hormone for infantile spasms: three cases and review of the literature. Epilepsia, 2020, 61(10): e159-e164. |
46. | O'Callaghan F, Edwards SW, Alber FD, et al. Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial. Lancet Child Adolesc Health, 2018, 2(10): 715-725. |
47. | Xu Z, Gong P, Jiao X, et al. Efficacy of vigabatrin in the treatment of infantile epileptic spasms syndrome: A systematic review and meta-analysis. Epilepsia Open, 2023, 8(2): 268-277. |
48. | Hahn J, Park G, Kang H C, et al. Optimized treatment for infantile spasms: vigabatrin versus prednisolone versus combination therapy. J Clin Med, 2019, 8(10). |
49. | Harada S, Tanaka S, Takahashi Y, et al. Inhibition of Ca(2+)-regulated exocytosis by levetiracetam, a ligand for SV2A, in antral mucous cells of guinea pigs. Eur J Pharmacol, 2013, 721(1-3): 185-192. |
50. | Freibauer A, Wohlleben M, Boelman C. STXBP1-related disorders: clinical presentation, molecular function, treatment, and future directions. Genes (Basel), 2023, 14(12). |
51. | Mahmoud AA, Rizk TM, Mansy AA, et al. Ineffectiveness of topiramate and levetiracetam in infantile spasms non-responsive to steroids. Open labeled randomized prospective study. Neurosciences (Riyadh), 2013, 18(2): 143-146. |
52. | 盛志强, 满宜刚, 袁嫣然. 托吡酯与左乙拉西坦治疗婴儿痉挛症的临床疗效. 重庆医学, 2016, 45(05): 634-635. |
53. | Douma TN, Millan MJ, Verdouw PM, et al. Valproate improves prepulse inhibition deficits induced by corticotropin-releasing factor independent of GABA(A) and GABA(B) receptor activation. Neuropharmacology, 2014, 79: 66-74. |
54. | Chandra S, Bhave A, Bhargava R, et al. West syndrome: response to valproate. Front Neurol, 2012, 3: 166. |
55. | Biton V. Clinical pharmacology and mechanism of action of zonisamide. Clin Neuropharmacol, 2007, 30(4): 230-240. |
56. | Panda PK, Sharawat IK, Panda P, et al. Efficacy, tolerability, and safety of zonisamide in children with epileptic spasms: a systematic review and meta-analysis. Seizure, 2021, 91: 374-383. |
57. | Angappan D, Sahu JK, Malhi P, et al. Safety, tolerability, and effectiveness of oral zonisamide therapy in comparison with intramuscular adrenocorticotropic hormone therapy in infants with West syndrome. Eur J Paediatr Neurol, 2019, 23(1): 136-142. |
58. | Hussain SA, Navarro M, Heesch J, et al. Limited efficacy of zonisamide in the treatment of refractory infantile spasms. Epilepsia Open, 2020, 5(1): 121-126. |
59. | Hahn J, Lee H, Kang HC, et al. Clobazam as an adjunctive treatment for infantile spasms. Epilepsy Behav, 2019, 95: 161-165. |
60. | Albersen M, Bosma M, Jans JJ, et al. Vitamin B6 in plasma and cerebrospinal fluid of children. PLoS One, 2015, 10(3): e120972. |
61. | Jiao X, Gong P, Niu Y, et al. The Clinical features and long-term follow-up of vitamin b6-responsive infantile spasms in a Chinese cohort. Front Neurol, 2022, 13: 895978. |
62. | Yuen AW, Sander JW. Can magnesium supplementation reduce seizures in people with epilepsy? A hypothesis. Epilepsy Res, 2012, 100(1-2): 152-156. |
63. | Wang Q, He W, Wang Y, et al. Response to magnesium sulfate and adrenocorticotropic hormone combination therapy for infantile spasms with failed first-line treatments. Pediatr Investig, 2023, 7(1): 29-35. |
64. | Anton-Tay F. Melatonin: effects on brain function. Adv Biochem Psychopharmacol, 1974, 11(0): 315-324. |
65. | Sun Y, Chen J, Shi X, et al. Safety and efficacy of melatonin supplementation as an add-on treatment for infantile epileptic spasms syndrome: a randomized, placebo-controlled, double-blind trial. J Pineal Res, 2023: e12922. |
66. | Dell'Isola GB, Tascini G, Vinti V, et al. Effect of melatonin on sleep quality and EEG features in childhood epilepsy: a possible non-conventional treatment. Front Neurol, 2023, 14: 1243917. |
67. | Gray RA, Whalley B J. The proposed mechanisms of action of CBD in epilepsy. Epileptic Disord, 2020, 22(S1): 10-15. |
68. | Reyes VG, Gallo A, Calvo A, et al. Purified cannabidiol as add-on therapy in children with treatment-resistant infantile epileptic spasms syndrome. Seizure, 2024, 115: 94-99. |
69. | Zhu H, Bi D, Zhang Y, et al. Ketogenic diet for human diseases: the underlying mechanisms and potential for clinical implementations. Signal Transduct Target Ther, 2022, 7(1): 11. |
70. | Dressler A, Benninger F, Trimmel-Schwahofer P, et al. Efficacy and tolerability of the ketogenic diet versus high-dose adrenocorticotropic hormone for infantile spasms: a single-center parallel-cohort randomized controlled trial. Epilepsia, 2019, 60(3): 441-451. |
71. | Wang J, Zhang J, Yang Y, et al. Efficacy of ketogenic diet for infantile spasms in Chinese patients with or without monogenic etiology. Front Pediatr, 2022, 10: 842666. |
72. | Sharma S, Dabla S, Kaushik J S. Modified Atkins Diet vs. Ketogenic diet in the management of children with epileptic spasms refractory to first line treatment: an open labelled, randomized controlled trial. Indian J Pediatr, 2023, 90(10): 969-973. |
73. | Yuanzhen Ye, Dan L, Huang S, et al. A multicenter retrospective cohort study of ketogenic diet therapy in 481 children with infantile spasms. Acta Epileptologica, 2022, 4(1): 11. |
74. | Gettings JV, Shafi S, Boyd J, et al. The epilepsy surgery experience in children with infantile epileptic spasms syndrome at a tertiary care center in Canada. J Child Neurol, 2023, 38(3-4): 113-120. |
75. | Kossoff EH, Zupec-Kania BA, Amark PE, et al. Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia, 2009, 50(2): 304-317. |
76. | Otsuka M, Oguni H, Liang JS, et al. STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. Epilepsia, 2010, 51(12): 2449-2452. |
77. | Wang QH, Cao JJ, Wang YY, et al. Efficacy of levetiracetam in STXBP1 encephalopathy with different phenotypic and genetic spectra. Seizure, 2022, 95: 64-74. |
78. | Wolff M, Johannesen KM, Hedrich U, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 2017, 140(5): 1316-1336. |
79. | Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med, 2006, 12(3): 307-309. |
80. | Jiao X, Xue J, Gong P, et al. Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study. Dev Med Child Neurol, 2020, 62(3): 315-321. |
81. | Nabbout R, Belousova E, Benedik MP, et al. Epilepsy in tuberous sclerosis complex: findings from the TOSCA Study. Epilepsia Open, 2019, 4(1): 73-84. |
82. | Shen YW, Wang YY, Zhang MN, et al. Sirolimus treatment for tuberous sclerosis complex prior to epilepsy: evidence from a registry-based real-world study. Seizure, 2022, 97: 23-31. |
- 1. Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 2022, 63(6): 1349-1397.
- 2. 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(4): 676-685.
- 3. Srivastava K, Agarwal E, Rajadhyaksha S, et al. Significant treatment gap and co-morbidities identified in an epidemiological survey of pediatric epilepsy in rural suburbs of India. Seizure, 2021, 91: 417-424.
- 4. Jia JL, Chen S, Sivarajah V, et al. Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis. Orphanet J Rare Dis, 2018, 13(1): 216.
- 5. Jiang Y, Zou N, Luo Y, et al. Cohort study of infantile epileptic spasms syndrome: etiological analysis and treatment of corticosteroids. Seizure, 2022, 101: 120-126.
- 6. Peng P, Kessi M, Mao L, et al. Etiologic classification of 541 infantile spasms cases: a cohort study. Front Pediatr, 2022, 10: 774828.
- 7. Meng Y, Geng G, Ren Y, et al. Long-term outcome of adrenocorticotropic hormone therapy in children with new-onset infantile spasms. Pediatr Neurol, 2023, 143: 100-105.
- 8. Wilmshurst JM, Gaillard WD, Vinayan KP, et al. Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics. Epilepsia, 2015, 56(8): 1185-1197.
- 9. Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a U. S. consensus report. Epilepsia, 2010, 51(10): 2175-2189.
- 10. Banerjee A, Sahu JK, Sankhyan N, et al. Randomized trial of high-dose pyridoxine in combination with standard hormonal therapy in West syndrome. Seizure, 2021, 91: 75-80.
- 11. Li S, Zhong X, Hong S, et al. Prednisolone/prednisone as adrenocorticotropic hormone alternative for infantile spasms: a meta-analysis of randomized controlled trials. Dev Med Child Neurol, 2020, 62(5): 575-580.
- 12. Sumanasena SP, Wanigasinghe J, Arambepola C, et al. Effect of intramuscular ACTH versus oral prednisolone on the developmental trajectories of children with West syndrome over 24 months: a randomised control study. Eur J Paediatr Neurol, 2021, 32: 98-105.
- 13. 罗可人, 唐军, 母得志. 泼尼松龙与促肾上腺糖皮质激素治疗婴儿痉挛症的Meta分析. 中国当代儿科杂志, 2019, 21(7): 656-662.
- 14. Brunson KL, Avishai-Eliner S, Baram TZ. ACTH treatment of infantile spasms: mechanisms of its effects in modulation of neuronal excitability. Int Rev Neurobiol, 2002, 49: 185-197.
- 15. 黄茜, 彭镜, 潘邹, 等. 首次促肾上腺皮质激素治疗婴儿癫痫痉挛综合征疗效的影响因素分析. 中国当代儿科杂志, 2023, 25(1): 60-66.
- 16. Duchowny MS, Chopra I, Niewoehner J, et al. A systematic literature review and indirect treatment comparison of efficacy of repository corticotropin injection versus synthetic adrenocorticotropic hormone for infantile spasms. J Health Econ Outcomes Res, 2021, 8(1): 1-9.
- 17. Zhu HM, Yuan CH, Luo MQ, et al. Safety and effectiveness of oral methylprednisolone therapy in comparison with intramuscular adrenocorticotropic hormone and oral prednisolone in children with infantile spasms. Front Neurol, 2021, 12: 756746.
- 18. Osborne JP, Edwards SW, Alber FD, et al. Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials. Eur J Paediatr Neurol, 2023, 42: 110-116.
- 19. Paprocka J, Malkiewicz J, Palazzo-Michalska V, et al. Effectiveness of ACTH in patients with infantile spasms. Brain Sci, 2022, 12(2).
- 20. Wan L, Lei YQ, Liu XT, et al. Assessing risk for relapse among children with infantile spasms using the based score after ACTH treatment: a retrospective study. Neurol Ther, 2022, 11(2): 835-849.
- 21. Guang S, Mao L, Zhong L, et al. Hormonal therapy for infantile spasms: a systematic review and meta-analysis. Front Neurol, 2022, 13: 772333.
- 22. Shao LR, Stafstrom CE. Pediatric epileptic encephalopathies: pathophysiology and animal models. Semin Pediatr Neurol, 2016, 23(2): 98-107.
- 23. Hancock E, Osborne J. Treatment of infantile spasms with high-dose oral prednisolone. Dev Med Child Neurol, 1998, 40(7): 500.
- 24. Basit A, Noreen N, Saleem SF, et al. Comparison of efficacy and safety of low- versus high-dose oral prednisolone in infantile spasm (IS): an open label randomized controlled trial at the Children's Hospital & Institute of Child Health, Multan, Pakistan. Cureus, 2022, 14(3): e23164.
- 25. Lux AL, Edwards SW, Hancock E, et al. The United Kingdom infantile spasms study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial. Lancet, 2004, 364(9447): 1773-1778.
- 26. O'Callaghan FJ, Edwards SW, Alber FD, et al. Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. Lancet Neurol, 2017, 16(1): 33-42.
- 27. 陈辉, 钟建民, 易招师, 等. 泼尼松治疗婴儿痉挛症的免疫机制研究. 中国当代儿科杂志, 2017, 19(10): 1044-1050.
- 28. Riikonen R. Infantile spasms: outcome in clinical studies. Pediatr Neurol, 2020, 108: 54-64.
- 29. 易招师, 查剑, 吴华平, 等. 婴儿痉挛症缓解后复发的危险因素. 中华实用儿科临床杂志, 2016, 31(12): 899-902.
- 30. 查剑, 曾兴颖, 易招师, 等. 大剂量泼尼松治疗婴儿痉挛症的优化方案. 癫痫杂志, 2017, 3(3): 193-198.
- 31. Kapoor D, Sharma S, Garg D, et al. Intravenous methylprednisolone versus oral prednisolone for west syndrome: a randomized open-label trial. Indian J Pediatr, 2021, 88(8): 778-784.
- 32. Deswal M, Lekhwani S, Vaswani ND, et al. Oral dexamethasone versus prednisolone for management of children with west syndrome: an open-labeled randomized controlled pilot trial. Ann Indian Acad Neurol, 2022, 25(5): 916-920.
- 33. Yi Z, Wu H, Yu X, et al. High-dose prednisone therapy for infantile spasms and late-onset epileptic spasms in China: The addition of topiramate provides no benefit. Seizure, 2019, 71: 174-178.
- 34. Rajaraman RR, Lay J, Alayari A, et al. Prevention of infantile spasms relapse: Zonisamide and topiramate provide no benefit. Epilepsia, 2016, 57(8): 1280-1287.
- 35. Willmore LJ, Abelson MB, Ben-Menachem E, et al. Vigabatrin: 2008 update. Epilepsia, 2009, 50(2): 163-173.
- 36. Yang J, Shen J. Elevated endogenous GABA concentration attenuates glutamate-glutamine cycling between neurons and astroglia. J Neural Transm (Vienna), 2009, 116(3): 291-300.
- 37. Griffith JL, Wong M. The mTOR pathway in treatment of epilepsy: a clinical update. Future Neurol, 2018, 13(2): 49-58.
- 38. Knupp KG, Coryell J, Singh RK, et al. Comparison of cosyntropin, vigabatrin, and combination therapy in new-onset infantile spasms in a prospective randomized trial. J Child Neurol, 2022, 37(3): 186-193.
- 39. Prezioso G, Chiarelli F, Matricardi S. Efficacy and safety of vigabatrin in patients with tuberous sclerosis complex and infantile epileptic spasm syndrome: a systematic review. Expert Rev Neurother, 2023, 23(7): 661-671.
- 40. Grinspan ZM, Knupp KG, Patel AD, et al. Comparative effectiveness of initial treatment for infantile spasms in a contemporary US cohort. Neurology, 2021, 97(12): e1217-e1228.
- 41. Al-Shehhi W, Chau V, Boyd J, et al. Treatment with high-dose prednisolone in vigabatrin-refractory infantile spasms. Can J Neurol Sci, 2022, 49(4): 532-539.
- 42. Biswas A, Yossofzai O, Vincent A, et al. Vigabatrin-related adverse events for the treatment of epileptic spasms: systematic review and meta-analysis. Expert Rev Neurother, 2020, 20(12): 1315-1324.
- 43. Westall CA, Wright T, Cortese F, et al. Vigabatrin retinal toxicity in children with infantile spasms: An observational cohort study. Neurology, 2014, 83(24): 2262-2268.
- 44. Xu Y, Wan L, He W, et al. Risk of vigabatrin-associated brain abnormalities on MRI: a retrospective and controlled study. Epilepsia, 2022, 63(1): 120-129.
- 45. Bhalla S, Skjei K. Fulminant vigabatrin toxicity during combination therapy with adrenocorticotropic hormone for infantile spasms: three cases and review of the literature. Epilepsia, 2020, 61(10): e159-e164.
- 46. O'Callaghan F, Edwards SW, Alber FD, et al. Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial. Lancet Child Adolesc Health, 2018, 2(10): 715-725.
- 47. Xu Z, Gong P, Jiao X, et al. Efficacy of vigabatrin in the treatment of infantile epileptic spasms syndrome: A systematic review and meta-analysis. Epilepsia Open, 2023, 8(2): 268-277.
- 48. Hahn J, Park G, Kang H C, et al. Optimized treatment for infantile spasms: vigabatrin versus prednisolone versus combination therapy. J Clin Med, 2019, 8(10).
- 49. Harada S, Tanaka S, Takahashi Y, et al. Inhibition of Ca(2+)-regulated exocytosis by levetiracetam, a ligand for SV2A, in antral mucous cells of guinea pigs. Eur J Pharmacol, 2013, 721(1-3): 185-192.
- 50. Freibauer A, Wohlleben M, Boelman C. STXBP1-related disorders: clinical presentation, molecular function, treatment, and future directions. Genes (Basel), 2023, 14(12).
- 51. Mahmoud AA, Rizk TM, Mansy AA, et al. Ineffectiveness of topiramate and levetiracetam in infantile spasms non-responsive to steroids. Open labeled randomized prospective study. Neurosciences (Riyadh), 2013, 18(2): 143-146.
- 52. 盛志强, 满宜刚, 袁嫣然. 托吡酯与左乙拉西坦治疗婴儿痉挛症的临床疗效. 重庆医学, 2016, 45(05): 634-635.
- 53. Douma TN, Millan MJ, Verdouw PM, et al. Valproate improves prepulse inhibition deficits induced by corticotropin-releasing factor independent of GABA(A) and GABA(B) receptor activation. Neuropharmacology, 2014, 79: 66-74.
- 54. Chandra S, Bhave A, Bhargava R, et al. West syndrome: response to valproate. Front Neurol, 2012, 3: 166.
- 55. Biton V. Clinical pharmacology and mechanism of action of zonisamide. Clin Neuropharmacol, 2007, 30(4): 230-240.
- 56. Panda PK, Sharawat IK, Panda P, et al. Efficacy, tolerability, and safety of zonisamide in children with epileptic spasms: a systematic review and meta-analysis. Seizure, 2021, 91: 374-383.
- 57. Angappan D, Sahu JK, Malhi P, et al. Safety, tolerability, and effectiveness of oral zonisamide therapy in comparison with intramuscular adrenocorticotropic hormone therapy in infants with West syndrome. Eur J Paediatr Neurol, 2019, 23(1): 136-142.
- 58. Hussain SA, Navarro M, Heesch J, et al. Limited efficacy of zonisamide in the treatment of refractory infantile spasms. Epilepsia Open, 2020, 5(1): 121-126.
- 59. Hahn J, Lee H, Kang HC, et al. Clobazam as an adjunctive treatment for infantile spasms. Epilepsy Behav, 2019, 95: 161-165.
- 60. Albersen M, Bosma M, Jans JJ, et al. Vitamin B6 in plasma and cerebrospinal fluid of children. PLoS One, 2015, 10(3): e120972.
- 61. Jiao X, Gong P, Niu Y, et al. The Clinical features and long-term follow-up of vitamin b6-responsive infantile spasms in a Chinese cohort. Front Neurol, 2022, 13: 895978.
- 62. Yuen AW, Sander JW. Can magnesium supplementation reduce seizures in people with epilepsy? A hypothesis. Epilepsy Res, 2012, 100(1-2): 152-156.
- 63. Wang Q, He W, Wang Y, et al. Response to magnesium sulfate and adrenocorticotropic hormone combination therapy for infantile spasms with failed first-line treatments. Pediatr Investig, 2023, 7(1): 29-35.
- 64. Anton-Tay F. Melatonin: effects on brain function. Adv Biochem Psychopharmacol, 1974, 11(0): 315-324.
- 65. Sun Y, Chen J, Shi X, et al. Safety and efficacy of melatonin supplementation as an add-on treatment for infantile epileptic spasms syndrome: a randomized, placebo-controlled, double-blind trial. J Pineal Res, 2023: e12922.
- 66. Dell'Isola GB, Tascini G, Vinti V, et al. Effect of melatonin on sleep quality and EEG features in childhood epilepsy: a possible non-conventional treatment. Front Neurol, 2023, 14: 1243917.
- 67. Gray RA, Whalley B J. The proposed mechanisms of action of CBD in epilepsy. Epileptic Disord, 2020, 22(S1): 10-15.
- 68. Reyes VG, Gallo A, Calvo A, et al. Purified cannabidiol as add-on therapy in children with treatment-resistant infantile epileptic spasms syndrome. Seizure, 2024, 115: 94-99.
- 69. Zhu H, Bi D, Zhang Y, et al. Ketogenic diet for human diseases: the underlying mechanisms and potential for clinical implementations. Signal Transduct Target Ther, 2022, 7(1): 11.
- 70. Dressler A, Benninger F, Trimmel-Schwahofer P, et al. Efficacy and tolerability of the ketogenic diet versus high-dose adrenocorticotropic hormone for infantile spasms: a single-center parallel-cohort randomized controlled trial. Epilepsia, 2019, 60(3): 441-451.
- 71. Wang J, Zhang J, Yang Y, et al. Efficacy of ketogenic diet for infantile spasms in Chinese patients with or without monogenic etiology. Front Pediatr, 2022, 10: 842666.
- 72. Sharma S, Dabla S, Kaushik J S. Modified Atkins Diet vs. Ketogenic diet in the management of children with epileptic spasms refractory to first line treatment: an open labelled, randomized controlled trial. Indian J Pediatr, 2023, 90(10): 969-973.
- 73. Yuanzhen Ye, Dan L, Huang S, et al. A multicenter retrospective cohort study of ketogenic diet therapy in 481 children with infantile spasms. Acta Epileptologica, 2022, 4(1): 11.
- 74. Gettings JV, Shafi S, Boyd J, et al. The epilepsy surgery experience in children with infantile epileptic spasms syndrome at a tertiary care center in Canada. J Child Neurol, 2023, 38(3-4): 113-120.
- 75. Kossoff EH, Zupec-Kania BA, Amark PE, et al. Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia, 2009, 50(2): 304-317.
- 76. Otsuka M, Oguni H, Liang JS, et al. STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. Epilepsia, 2010, 51(12): 2449-2452.
- 77. Wang QH, Cao JJ, Wang YY, et al. Efficacy of levetiracetam in STXBP1 encephalopathy with different phenotypic and genetic spectra. Seizure, 2022, 95: 64-74.
- 78. Wolff M, Johannesen KM, Hedrich U, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 2017, 140(5): 1316-1336.
- 79. Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med, 2006, 12(3): 307-309.
- 80. Jiao X, Xue J, Gong P, et al. Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study. Dev Med Child Neurol, 2020, 62(3): 315-321.
- 81. Nabbout R, Belousova E, Benedik MP, et al. Epilepsy in tuberous sclerosis complex: findings from the TOSCA Study. Epilepsia Open, 2019, 4(1): 73-84.
- 82. Shen YW, Wang YY, Zhang MN, et al. Sirolimus treatment for tuberous sclerosis complex prior to epilepsy: evidence from a registry-based real-world study. Seizure, 2022, 97: 23-31.