- 执笔(排名不分先后) 姜玉武、张月华、吴晔(北京大学第一医院),方方、田小娟(首都医科大学附属北京儿童医院),张建昭(首都儿科研究所附属儿童医院),柳青(北京协和医院),周东(四川大学华西医院),王艺、周水珍(复旦大学附属儿科医院),蒋莉(重庆医科大学附属儿童医院),廖卫平、刘晓蓉(广州医科大学附属第二医院),操德智(深圳市儿童医院),彭镜(中南大学湘雅医院),王华(中国医科大学附属盛京医院),孙丹(武汉儿童医院),汪东(西安市儿童医院),郑帼(南京医科大学附属儿童医院),高峰(浙江大学医学院附属儿童医院),梁建民(吉林大学第一医院),贾天明(郑州大学第三附属医院),刘晓鸣(徐州市儿童医院);
中国抗癫痫协会创新与转化专业委员会,
Email: jiangyw@263.net
Citation: 中国抗癫痫协会创新与转化专业委员会, 中华医学会儿科学分会罕见病学组, 中华医学会儿科学分会神经学组. Dravet综合征诊断与治疗的中国专家共识. Journal of Epilepsy, 2024, 10(1): 1-11. doi: 10.7507/2096-0247.202311012 Copy
1. | Dravet C, Bureau M, Oguni H, et al. Severe myoclonic epilepsy in infancy: dravet syndrome. Handbook of Clinical Neurology, 2005, 95: 71. |
2. | Connolly MB. Dravet syndrome: diagnosis and long-term course. Canadian Journal of Neurological Sciences Le Journal Canadien Des Sciences Neurologiques, 2016, 43(S3): S3-S8. |
3. | 中国罕见病联盟, 北京协和医院. 中国《罕见病诊疗指南》(2019年版): 667-673. |
4. | Wirrell EC, Laux L, Donner E, et al. Optimizing the diagnosis and management of dravet syndrome: recommendations from a north American consensus panel. Pediatr Neurol, 2017, 68: 18-34. |
5. | Cross JH, Caraballo RH, Nabbout R, et al. Dravet syndrome: treatment options and management of prolonged seizures. Epilepsia, 2019, 60(Suppl 3): S39-S48. |
6. | Scottish Intercollegiate Guidelines Network (SIGN). Epilepsies in children and young people: investigative procedures and management. Edinburgh: SIGN; 2020. (SIGN publication no. 159). [May 2021]. Available from URL:http://www.sign.ac.uk. |
7. | NICE guideline [NG217]: Epilepsies in children, young people and adults. P59-62. Published: 27 April 2022 (https://www.nice.org.uk/guidance/ng217). |
8. | Wirrell EC, Hood V, Knupp KG, et al. International consensus on diagnosis and management of Dravet syndrome. Epilepsia, 2022, 63(7): 1761-1777. |
9. | Ziobro J, Eschbach K, Sullivan JE, et al. Current treatment strategies and future treatment options for dravet syndrome. Curr Treat Options Neurol, 2018, 20(12): 52. |
10. | Cardenal-Muñoz E, Auvin S, Villanueva V, et al. Guidance on dravet syndrome from infant to adult care: road map for treatment planning in Europe. Epilepsia Open, 2022, 7(1): 11-26. |
11. | 中华医学会儿科学分会神经学组. 新诊断儿童癫痫的初始单药治疗专家共识. 中华儿科杂志, 2015, 53(10): 734-737. |
12. | 中国抗癫痫协会. 临床诊疗指南: 癫痫病分册. 北京: 人民卫生出版社, 2023: 51-57. |
13. | Kanner AM, Ashman E, Gloss D, et al. Practice guideline update summary: efficacy and tolerability of the new antiepileptic drugs II: treatment-resistant epilepsy: report of the guideline development, dissemination, and implementation subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology, 2018, 91(2): 82-90. |
14. | Wu YW, Sullivan J, Mcdaniel S S, et al. Incidence of Dravet syndrome in a US population. Pediatrics, 2015, 136(5): 1310-1315. |
15. | Bayat A, Hjalgrim H, Møller RS. The incidence of SCN1A-related Dravet syndrome in Denmark is 1: 22, 000: a population-based study from 2004 to 2009. Epilepsia, 2015, 56(4): 36-39. |
16. | Gil-Nagel A, Sanchez-Carpintero R, San Antonio V, et al. Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain. Rev Neurol, 2019, 68(2): 75-81. |
17. | Samanta D. Changing landscape of Dravet syndrome management: an overview. Neuropediatrics, 2020, 51(2): 135-145. |
18. | 张月华. Dravet综合征临床诊治策略. 中华儿科杂志, 2023, 61(5): 478-480. |
19. | Lopez-Santiago L, Isom LL. Dravet syndrome: a developmental and epileptic encephalopathy. Epilepsy Curr, 2019, 19(1): 51-53. |
20. | Li W, Schneider AL, Scheffer IE. Defining Dravet syndrome: an essential pre-requisite for precision medicine trials. Epilepsia, 2021, 62(9): 2205-2217. |
21. | Selvarajah A, Zulfiqar-Ali Q, Marques P, et al. A systematic review of adults with Dravet syndrome. Seizure, 2021, 87: 39-45. |
22. | 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. |
23. | Losito E, Kuchenbuch M, Chemaly N, et al. Age-related "Sleep/nocturnal" tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet Syndrome. Epilepsy Behav, 2017, 74: 33-40. |
24. | Tian X, Ye J, Zeng Q, et al. The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome. Dev Med Child Neurol, 2018, 60(6): 566-573. |
25. | Myers KA, McMahon JM, Mandelstam SA, et al. Fatal cerebral edema with status epilepticus in children with Dravet syndrome: report of 5 cases. Pediatrics, 2017, 139(4): e20161933. |
26. | Dravet C. Acute encephalopathy after febrile status epilepticus: an underdiagnosed, misunderstood complication of Dravet syndrome. Dev Med Child Neurol, 2018, 60(6): 534. |
27. | Rodda JM, Scheffer IE, McMahon JM, et al. Progressive gait deterioration in adolescents with Dravet syndrome. Arch Neurol, 2012, 69(7): 873-878. |
28. | Dravet C, Bureau M, Dalla B B, et al. Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later. Epilepsia, 2011, 52(suppl): 1-2. |
29. | Black L, Gaebler-Spira D. Crouch gait in dravet syndrome. Pediatr Neurol Briefs, 2016, 30(11): 42. |
30. | Wyers L, Van de Walle P, Hoornweg A, et al. Gait deviations in patients with dravet syndrome: A systematic review. Eur J Paediatr Neurol, 2019, 23(3): 357-367. |
31. | Selvarajah A, Gorodetsky C, Marques P, et al. Progressive worsening of gait and motor abnormalities in older adults with Dravet syndrome. Neurology, 2022, 98(22): e2204-e2210. |
32. | Fasano A, Borlot F, Lang A E, et al. Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome. Neurology, 2014, 82(24): 2250-2251. |
33. | Shmuely S, Sisodiya SM, Gunning WB, et al. Mortality in Dravet syndrome: a review. Epilepsy Behav, 2016, 64(Pt A): 69-74. |
34. | 邱建敏, 刘晓燕, 张月华, 等. Dravet综合征临床和脑电图特征及演变过程. 中华神经科杂志, 2010, 43(10): 14. |
35. | Lee HF, Chi CS, Tsai CR, et al. Electroencephalographic features of patients with SCN1A-positive Dravet syndrome. Brain & Development, 2015, 37(6): 599-611. |
36. | Scheffer IE. Diagnosis and long-term course of Dravet syndrome. European Journal of Paediatric Neurology, 2012, 16(Suppl 1): S5-S8. |
37. | 赵娜, 程苗苗, 杨莹, 等. 染色体2q24.3微缺失相关癫痫遗传学与临床特点研究 . 中华儿科杂志, 2022, 60(11) : 1140-1146. |
38. | Lee J, Lee C, Park WY, et al. Genetic diagnosis of Dravet syndrome using next generation sequencing-based epilepsy gene panel testing. Ann Clin Lab Sci, 2020, 50(5): 625-637. |
39. | Steel D, Symonds JD, Zuberi SM, et al. Dravet syndrome and its mimics: beyond SCN1A. Epilepsia, 2017, 58(11): 1807-1816. |
40. | Xu XJ, Yang XX, Wu QX, et al. Amplicon resequencing identified parental mosaicism for approximately 10% of "de novo" SCN1A mutations in children with Dravet syndrome. Hum Mutat, 2015, 36(9): 861-872. |
41. | Hernandez CC, Tian X, Hu N, et al. Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABAA receptors. Brain Commun, 2021, 3(2): fcab033. |
42. | Xu X, Zhang Y, Sun H, et al. Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations. Brain Dev, 2014, 36(8): 676-681. |
43. | Inoue Y, Ohtsuka Y, Oguni H, et al. Stiripentol open study in Japanese patients with Dravet syndrome. Epilepsia, 2009, 50(11): 2362-2368. |
44. | Shi XY, Tomonoh Y, Wang WZ, et al. Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes. Brain Dev, 2016, 38(1): 40-46. |
45. | Dressler A, Trimmel-Schwahofer P, Reithofer E, et al. Efficacy and tolerability of the ketogenic diet in Dravet syndrome - comparison with various standard antiepileptic drug regimen. Epilepsy Res, 2015, 109: 81-89. |
46. | Strzelczyk A, Schubert-Bast S. A practical guide to the treatment of Dravet syndrome with anti-seizure medication. CNS Drugs, 2022, 36(3): 217-237. |
47. | Chiron C, Marchand MC, Tran A, et al. Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Lancet, 2000, 356(9242): 1638-1642. |
48. | Guerrini R, Tonnelier S, d´Athis P, et al. Stiripentol in severe myoclonic epilepsy in infancy (SMEI): a placebo-controlled Italian trial. Epilepsia, 2002, 43(Suppl 8): 155. |
49. | Wirrell EC, Laux L, Franz DN, et al. Stiripentol in Dravet syndrome: results of a retrospective U. S. study. Epilepsia, 2013, 54(9): 1595-1604. |
50. | Tanabe T, Awaya Y, Matsuishi T, et al. Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome) - a nationwide questionnaire survey in Japan. Brain & Development, 2008, 30(10): 629-635. |
51. | Nabbout R, Mistry A, Zuberi S, et al. Fenfuramine for treatment-resistant seizures in patients with Dravet syndrome receiving stiripentolinclusive regimens: a randomized clinical trial. JAMA Neurol, 2019, 77: 300. |
52. | Schoonjans A, Paelinck BP, Marchau F, et al. Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients. Eur J Neurol, 2017, 24(2): 309-314. |
53. | Lagae L, Sullivan J, Knupp K, et al. Fenfuramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial. Lancet, 2020, 394(10216): 2243-2254. |
54. | Devinsky O, Cross JH, Laux L, et al. Trial of cannabidiol for drug-resistant seizures in the Dravet syndrome. N Engl J Med, 2017, 376(21): 2011-2020. |
55. | Miller I, Schefer IE, Gunning B, et al. Dose-ranging efect of adjunctive oral cannabidiol vs placebo on convulsive seizure frequency in Dravet syndrome: a randomized clinical trial. JAMA Neurol, 2020, 77(5): 613-621. |
56. | Kröll-Seger J, Portilla P, Dulac O, et al. Topiramate in the treatment of highly refractory patients with Dravet syndrome. Neuropediatrics, 2006, 37(6): 325-329. |
57. | Coppola G, Capovilla G, Montagnini A, et al. Topiramate as add-on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial. Epilepsy Res, 2002, 9(1): 45-48. |
58. | Nieto-Barrera M, Candau R, Nieto-Jimenez M, et al. Topiramate in the treatment of severe myoclonic epilepsy in infancy. Seizure, 2000, 9(8): 590-594. |
59. | shii A, Watkins JC, Chen D, et al. Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome. Epilepsia, 2017, 58(2): 282-290. |
60. | Shi XY, Tomonoh Y, Wang WZ, et al. Epilepsy Genetic Study Group, Japan. Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes. Brain Dev, 2016, 38(1): 40-46. |
61. | 中国抗癫痫协会. 临床诊疗指南: 癫痫病分册. 北京: 人民卫生出版社, 2015: 64-66. |
62. | Striano P, Coppola A, Pezzella M, et al. An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy. Neurology, 2007, 69(3): 250-254. |
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67. | Qu R, Dai Y, Qu X, et al. Use of perampanel in children with refractory epilepsy of genetic aetiology. Epileptic Disord, 2022, 24(4): 687-695. |
68. | Turón-Viñas E, Díaz-Gómez A, Coca E, et al. Long-term efficacy of perampanel in a child with Dravet syndrome. Child Neurol Open, 2021, 8: 2329048X211050711. |
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70. | Ishikawa N, Tateishi Y, Tani H, et al. Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation. Seizure, 2019, 71: 20-23. |
71. | Yoshitomi S, Takahashi Y, Yamaguchi T, et al. Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome. Epilepsy Res, 2019, 154: 34-38. |
72. | Biró A, Stephani U, Tarallo T, et al. Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies: first experiences. Neuropediatrics, 2015, 46(2): 110-116. |
73. | 中国医师协会神经内科医师分会儿童神经专业委员会, 中华医学会儿科学分会神经学组. 生酮饮食治疗儿童癫痫性脑病循证指南. 中华实用儿科临床杂志, 2019, 34(12): 881-888. |
74. | Wang YQ, Fang ZX, Zhang YW, et al. Efficacy of the ketogenic diet in patients with Dravet syndrome: a meta-analysis. Seizure, 2020, 81: 36-42. |
75. | Tian X, Chen J, Zhang J, et al. The efficacy of ketogenic diet in 60 Chinese patients with Dravet syndrome. Front Neurol, 2019, 10: 625. |
76. | Yu M, Li H, Sun D, et al. China Association Against Epilepsy Ketogenic Diet Group. The ketogenic diet for Dravet syndrome: a multicenter retrospective study. Nutrition, 2023, 110: 111976. |
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78. | Hajtovic S, LoPresti MA, Zhang L, et al. The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis. J Neurosurg Pediatr, 2022, 18: 1-14. |
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81. | Nickels KC, Wirrell EC. Dravet Syndrome: don't hesitate, just vaccinate! Neurology, 2023, 100(4): 171-173. |
82. | Hood V, Berg AT, Knupp KG, et al. COVID-19 vaccine in patients with Dravet syndrome: observations and real-world experiences. Epilepsia, 2022, 63(7): 1778-1786. |
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84. | Andrade DM, Berg AT, Hood V, et al. Dravet syndrome: a quick transition guide for the adult neurologist. Epilepsy Res, 2021, 177: 106743. |
- 1. Dravet C, Bureau M, Oguni H, et al. Severe myoclonic epilepsy in infancy: dravet syndrome. Handbook of Clinical Neurology, 2005, 95: 71.
- 2. Connolly MB. Dravet syndrome: diagnosis and long-term course. Canadian Journal of Neurological Sciences Le Journal Canadien Des Sciences Neurologiques, 2016, 43(S3): S3-S8.
- 3. 中国罕见病联盟, 北京协和医院. 中国《罕见病诊疗指南》(2019年版): 667-673.
- 4. Wirrell EC, Laux L, Donner E, et al. Optimizing the diagnosis and management of dravet syndrome: recommendations from a north American consensus panel. Pediatr Neurol, 2017, 68: 18-34.
- 5. Cross JH, Caraballo RH, Nabbout R, et al. Dravet syndrome: treatment options and management of prolonged seizures. Epilepsia, 2019, 60(Suppl 3): S39-S48.
- 6. Scottish Intercollegiate Guidelines Network (SIGN). Epilepsies in children and young people: investigative procedures and management. Edinburgh: SIGN; 2020. (SIGN publication no. 159). [May 2021]. Available from URL:http://www.sign.ac.uk.
- 7. NICE guideline [NG217]: Epilepsies in children, young people and adults. P59-62. Published: 27 April 2022 (https://www.nice.org.uk/guidance/ng217).
- 8. Wirrell EC, Hood V, Knupp KG, et al. International consensus on diagnosis and management of Dravet syndrome. Epilepsia, 2022, 63(7): 1761-1777.
- 9. Ziobro J, Eschbach K, Sullivan JE, et al. Current treatment strategies and future treatment options for dravet syndrome. Curr Treat Options Neurol, 2018, 20(12): 52.
- 10. Cardenal-Muñoz E, Auvin S, Villanueva V, et al. Guidance on dravet syndrome from infant to adult care: road map for treatment planning in Europe. Epilepsia Open, 2022, 7(1): 11-26.
- 11. 中华医学会儿科学分会神经学组. 新诊断儿童癫痫的初始单药治疗专家共识. 中华儿科杂志, 2015, 53(10): 734-737.
- 12. 中国抗癫痫协会. 临床诊疗指南: 癫痫病分册. 北京: 人民卫生出版社, 2023: 51-57.
- 13. Kanner AM, Ashman E, Gloss D, et al. Practice guideline update summary: efficacy and tolerability of the new antiepileptic drugs II: treatment-resistant epilepsy: report of the guideline development, dissemination, and implementation subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology, 2018, 91(2): 82-90.
- 14. Wu YW, Sullivan J, Mcdaniel S S, et al. Incidence of Dravet syndrome in a US population. Pediatrics, 2015, 136(5): 1310-1315.
- 15. Bayat A, Hjalgrim H, Møller RS. The incidence of SCN1A-related Dravet syndrome in Denmark is 1: 22, 000: a population-based study from 2004 to 2009. Epilepsia, 2015, 56(4): 36-39.
- 16. Gil-Nagel A, Sanchez-Carpintero R, San Antonio V, et al. Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain. Rev Neurol, 2019, 68(2): 75-81.
- 17. Samanta D. Changing landscape of Dravet syndrome management: an overview. Neuropediatrics, 2020, 51(2): 135-145.
- 18. 张月华. Dravet综合征临床诊治策略. 中华儿科杂志, 2023, 61(5): 478-480.
- 19. Lopez-Santiago L, Isom LL. Dravet syndrome: a developmental and epileptic encephalopathy. Epilepsy Curr, 2019, 19(1): 51-53.
- 20. Li W, Schneider AL, Scheffer IE. Defining Dravet syndrome: an essential pre-requisite for precision medicine trials. Epilepsia, 2021, 62(9): 2205-2217.
- 21. Selvarajah A, Zulfiqar-Ali Q, Marques P, et al. A systematic review of adults with Dravet syndrome. Seizure, 2021, 87: 39-45.
- 22. 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.
- 23. Losito E, Kuchenbuch M, Chemaly N, et al. Age-related "Sleep/nocturnal" tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet Syndrome. Epilepsy Behav, 2017, 74: 33-40.
- 24. Tian X, Ye J, Zeng Q, et al. The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome. Dev Med Child Neurol, 2018, 60(6): 566-573.
- 25. Myers KA, McMahon JM, Mandelstam SA, et al. Fatal cerebral edema with status epilepticus in children with Dravet syndrome: report of 5 cases. Pediatrics, 2017, 139(4): e20161933.
- 26. Dravet C. Acute encephalopathy after febrile status epilepticus: an underdiagnosed, misunderstood complication of Dravet syndrome. Dev Med Child Neurol, 2018, 60(6): 534.
- 27. Rodda JM, Scheffer IE, McMahon JM, et al. Progressive gait deterioration in adolescents with Dravet syndrome. Arch Neurol, 2012, 69(7): 873-878.
- 28. Dravet C, Bureau M, Dalla B B, et al. Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later. Epilepsia, 2011, 52(suppl): 1-2.
- 29. Black L, Gaebler-Spira D. Crouch gait in dravet syndrome. Pediatr Neurol Briefs, 2016, 30(11): 42.
- 30. Wyers L, Van de Walle P, Hoornweg A, et al. Gait deviations in patients with dravet syndrome: A systematic review. Eur J Paediatr Neurol, 2019, 23(3): 357-367.
- 31. Selvarajah A, Gorodetsky C, Marques P, et al. Progressive worsening of gait and motor abnormalities in older adults with Dravet syndrome. Neurology, 2022, 98(22): e2204-e2210.
- 32. Fasano A, Borlot F, Lang A E, et al. Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome. Neurology, 2014, 82(24): 2250-2251.
- 33. Shmuely S, Sisodiya SM, Gunning WB, et al. Mortality in Dravet syndrome: a review. Epilepsy Behav, 2016, 64(Pt A): 69-74.
- 34. 邱建敏, 刘晓燕, 张月华, 等. Dravet综合征临床和脑电图特征及演变过程. 中华神经科杂志, 2010, 43(10): 14.
- 35. Lee HF, Chi CS, Tsai CR, et al. Electroencephalographic features of patients with SCN1A-positive Dravet syndrome. Brain & Development, 2015, 37(6): 599-611.
- 36. Scheffer IE. Diagnosis and long-term course of Dravet syndrome. European Journal of Paediatric Neurology, 2012, 16(Suppl 1): S5-S8.
- 37. 赵娜, 程苗苗, 杨莹, 等. 染色体2q24.3微缺失相关癫痫遗传学与临床特点研究 . 中华儿科杂志, 2022, 60(11) : 1140-1146.
- 38. Lee J, Lee C, Park WY, et al. Genetic diagnosis of Dravet syndrome using next generation sequencing-based epilepsy gene panel testing. Ann Clin Lab Sci, 2020, 50(5): 625-637.
- 39. Steel D, Symonds JD, Zuberi SM, et al. Dravet syndrome and its mimics: beyond SCN1A. Epilepsia, 2017, 58(11): 1807-1816.
- 40. Xu XJ, Yang XX, Wu QX, et al. Amplicon resequencing identified parental mosaicism for approximately 10% of "de novo" SCN1A mutations in children with Dravet syndrome. Hum Mutat, 2015, 36(9): 861-872.
- 41. Hernandez CC, Tian X, Hu N, et al. Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABAA receptors. Brain Commun, 2021, 3(2): fcab033.
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