Dravet综合征诊断与治疗的中国专家共识_Journal of Epilepsy

Authors：

 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

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）;

Corresponding author：

中国抗癫痫协会创新与转化专业委员会, Email: jiangyw@263.net

Keywords：

DOI：

10.7507/2096-0247.202311012

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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.
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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.
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Analysis of ketogenic diet on developmental and epileptic encephalopathy caused by PIGA gene mutation

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Dravet综合征诊断与治疗的中国专家共识

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