Dravet綜合征診斷與治療的中國專家共識_Journal of Epilepsy

Authors：

 中國抗癲癇協會創新與轉化專業委員會 , 中華醫學會兒科學分會罕見病學組 , 中華醫學會兒科學分會神經學組

執筆（排名不分先后）姜玉武、張月華、吳曄（北京大學第一醫院），方方、田小娟（首都醫科大學附屬北京兒童醫院），張建昭（首都兒科研究所附屬兒童醫院），柳青（北京協和醫院），周東（四川大學華西醫院），王藝、周水珍（復旦大學附屬兒科醫院），蔣莉（重慶醫科大學附屬兒童醫院），廖衛平、劉曉蓉（廣州醫科大學附屬第二醫院），操德智（深圳市兒童醫院），彭鏡（中南大學湘雅醫院），王華（中國醫科大學附屬盛京醫院），孫丹（武漢兒童醫院），汪東（西安市兒童醫院），鄭幗（南京醫科大學附屬兒童醫院），高峰（浙江大學醫學院附屬兒童醫院），梁建民（吉林大學第一醫院），賈天明（鄭州大學第三附屬醫院），劉曉鳴（徐州市兒童醫院）;

Corresponding?author：

中國抗癲癇協會創新與轉化專業委員會, Email: jiangyw@263.net

Keywords：

DOI：

10.7507/2096-0247.202311012

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

Citation： 中國抗癲癇協會創新與轉化專業委員會, 中華醫學會兒科學分會罕見病學組, 中華醫學會兒科學分會神經學組. Dravet綜合征診斷與治療的中國專家共識. 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.	中國罕見病聯盟, 北京協和醫院. 中國《罕見病診療指南》(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-Mu?oz 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.	中華醫學會兒科學分會神經學組. 新診斷兒童癲癇的初始單藥治療專家共識. 中華兒科雜志, 2015, 53(10): 734-737.
12.	中國抗癲癇協會. 臨床診療指南: 癲癇病分冊. 北京: 人民衛生出版社, 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, M?ller 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.	張月華. Dravet綜合征臨床診治策略. 中華兒科雜志, 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, 劉曉燕, 張月華, 等. Dravet綜合征臨床和腦電圖特征及演變過程. 中華神經科雜志, 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.	趙娜, 程苗苗, 楊瑩, 等. 染色體2q24.3微缺失相關癲癇遺傳學與臨床特點研究 . 中華兒科雜志, 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.	Kr?ll-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.	中國抗癲癇協會. 臨床診療指南: 癲癇病分冊. 北京: 人民衛生出版社, 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.
63.	Lee Y J, Kang H J. Efficacy and tolerability of adjunctive therapy with zonisamide in childhood intractable epilepsy. Brain & Development, 2010, 32(3): 208-212.
64.	吳曄, 操德智, 馮建華, 等. 兒童癲癇患者中吡侖帕奈使用的專家建議. 癲癇雜志, 2022, 8(2): 95-98.
65.	Nissenkorn A, Kluger G, Schubert-Bast S, et al. Perampanel as precision therapy in rare genetic epilepsies. Epilepsia, 2023, 64(4): 866-874.
66.	Lin KL, Lin JJ, Chou ML, et al. Efficacy and tolerability of perampanel in children and adolescents with pharmacoresistant epilepsy: the first real-world evaluation in Asian pediatric neurology clinics. Epilepsy Behav, 2018, 85: 188-194.
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-Vi?as 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.
69.	Chang FM, Fan PC, Weng WC, et al. The efficacy of perampanel in young children with drug-resistant epilepsy. Seizure, 2020, 75: 82-86.
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.	中國醫師協會神經內科醫師分會兒童神經專業委員會, 中華醫學會兒科學分會神經學組. 生酮飲食治療兒童癲癇性腦病循證指南. 中華實用兒科臨床雜志, 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.
77.	Dibué-Adjei M, Fischer I, Steiger HJ, et al. Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome: a meta-analysis of 68 patients. Seizure, 2017, 50: 147-152.
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.
79.	Paprocka J, Lewandowska A, Zieliński P, et al. Dravet syndrome-the Polish family's perspective study. J Clin Med, 2021, 10(9): 1903.
80.	Lagae L, Irwin J, Gibson E, et al. Caregiver impact and health service use in high and low severity Dravet syndrome: a multinational cohort study. Seizure, 2019, 65: 72-79.
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.
83.	Howell KB, Butcher S, Schneider AL, et al. Complications of influenza A or B virus infection in individuals with SCN1A-positive Dravet syndrome. Neurology, 2023, 100(4): e435-e442.
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. 中國罕見病聯盟, 北京協和醫院. 中國《罕見病診療指南》(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-Mu?oz 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. 中華醫學會兒科學分會神經學組. 新診斷兒童癲癇的初始單藥治療專家共識. 中華兒科雜志, 2015, 53(10): 734-737.
12. 中國抗癲癇協會. 臨床診療指南: 癲癇病分冊. 北京: 人民衛生出版社, 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, M?ller 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. 張月華. Dravet綜合征臨床診治策略. 中華兒科雜志, 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, 劉曉燕, 張月華, 等. Dravet綜合征臨床和腦電圖特征及演變過程. 中華神經科雜志, 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. 趙娜, 程苗苗, 楊瑩, 等. 染色體2q24.3微缺失相關癲癇遺傳學與臨床特點研究 . 中華兒科雜志, 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. Kr?ll-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. 中國抗癲癇協會. 臨床診療指南: 癲癇病分冊. 北京: 人民衛生出版社, 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.
63. Lee Y J, Kang H J. Efficacy and tolerability of adjunctive therapy with zonisamide in childhood intractable epilepsy. Brain & Development, 2010, 32(3): 208-212.
64. 吳曄, 操德智, 馮建華, 等. 兒童癲癇患者中吡侖帕奈使用的專家建議. 癲癇雜志, 2022, 8(2): 95-98.
65. Nissenkorn A, Kluger G, Schubert-Bast S, et al. Perampanel as precision therapy in rare genetic epilepsies. Epilepsia, 2023, 64(4): 866-874.
66. Lin KL, Lin JJ, Chou ML, et al. Efficacy and tolerability of perampanel in children and adolescents with pharmacoresistant epilepsy: the first real-world evaluation in Asian pediatric neurology clinics. Epilepsy Behav, 2018, 85: 188-194.
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-Vi?as 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.
69. Chang FM, Fan PC, Weng WC, et al. The efficacy of perampanel in young children with drug-resistant epilepsy. Seizure, 2020, 75: 82-86.
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. 中國醫師協會神經內科醫師分會兒童神經專業委員會, 中華醫學會兒科學分會神經學組. 生酮飲食治療兒童癲癇性腦病循證指南. 中華實用兒科臨床雜志, 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.
77. Dibué-Adjei M, Fischer I, Steiger HJ, et al. Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome: a meta-analysis of 68 patients. Seizure, 2017, 50: 147-152.
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.
79. Paprocka J, Lewandowska A, Zieliński P, et al. Dravet syndrome-the Polish family's perspective study. J Clin Med, 2021, 10(9): 1903.
80. Lagae L, Irwin J, Gibson E, et al. Caregiver impact and health service use in high and low severity Dravet syndrome: a multinational cohort study. Seizure, 2019, 65: 72-79.
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.
83. Howell KB, Butcher S, Schneider AL, et al. Complications of influenza A or B virus infection in individuals with SCN1A-positive Dravet syndrome. Neurology, 2023, 100(4): e435-e442.
84. Andrade DM, Berg AT, Hood V, et al. Dravet syndrome: a quick transition guide for the adult neurologist. Epilepsy Res, 2021, 177: 106743.

Previous Article
Cover
Next Article
Analysis of ketogenic diet on developmental and epileptic encephalopathy caused by PIGA gene mutation

Journal of Epilepsy

Dravet綜合征診斷與治療的中國專家共識

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content