禁忌用药对 Dravet 综合征认知结局的影响及初次非高热性痫性发作年龄对 <i>SCN1A</i> 相关痫性发作表型的临床预测作用_Journal of Epilepsy

Authors：

 de LangeIM , GunningB , SonsmaACM , 覃英杰　译 , 慕洁　熊维希　审

Corresponding author：

de LangeIM, Email: i.m.delange-2@umcutrecht.nl

Keywords：

认知; Dravet 综合征; 全面性癫痫伴热性惊厥附加症; SCN1A; 钠离子通道阻滞剂

DOI：

10.7507/2096-0247.20190064

Video：

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SCN1A 致病性变异可引起不同严重程度的疾病表型，而这在疾病初期可能难以辨别。研究组致力于探究有助于预测痫性发作分别向 Dravet 综合征演变和预测 Dravet 综合征认知结局的临床特征，分析了禁忌用药对认知减退的可能调节作用。评估由 164 例 SCN1A 相关痫性发作的荷兰患者组成的队列研究。临床数据通过医疗记录和半结构式电话回访获得。认知功能由一名儿童神经科医师、一名神经心理医师和一名临床基因学家测评分类。通过单因素和多因素回归分析多项临床变量（包括在病程前 5 年禁忌用药的持续时间）发现，起病前 5 年内更长时间的禁忌用药与纳入研究时更差的认知结局显著相关，同时与 Dravet 综合征患者第一个 5 年病程后更低的内插智商值和发育智商值有关。多因素线性回归分析提示，禁忌用药是认知结局的一个重要预测因素。此外，初次发现发育迟缓的年龄和初次非高热性痫性发作年龄也是其重要的预测因素。而在完整的队列中，初次非高热性痫性发作年龄是痫性发作向 Dravet 综合征演变最准确的预测因素。比研究数据提示病程前 5 年内更长时间的禁忌用药对 Dravet 综合征患者的认知结局有负面影响。早期诊断对于避免使用这些禁忌药物极为重要。研究还发现初次非高热性痫性发作年龄是痫性发作向 Dravet 综合征演变以及 Dravet 综合征疾病严重程度的重要预测因素，这些都可为 SCN1A 相关痫性发作年幼患者的父母提供建议。

Citation： de LangeIM, GunningB, SonsmaACM, 覃英杰　译, 慕洁　熊维希　审. 禁忌用药对 Dravet 综合征认知结局的影响及初次非高热性痫性发作年龄对 SCN1A 相关痫性发作表型的临床预测作用. Journal of Epilepsy, 2019, 5(5): 396-405. doi: 10.7507/2096-0247.20190064 Copy

1.	Zuberi SM, Brunklaus A, Birch R, et al. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology, 2011, 76(7): 594-600.
2.	Takayama R, Fujiwara T, Shigematsu H, et al. Long-term course of Dravet syndrome: a study from an epilepsy center in Japan. Epilepsia, 2014, 55(4): 528-538.
3.	Singh R, Andermann E, Whitehouse WP, et al. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia, 2001, 42(7): 837-844.
4.	Sadleir LG, Mountier EI, Gill D, et al. Not all SCN1A epileptic encephalopathies are Dravet syndrome. Neurology, 2017, 89(10): 1035-1042.
5.	Fujiwara T. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res, 2006, 70(Suppl 1): 223-230.
6.	Brunklaus A, Ellis R, Reavey E, et al. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain, 2012, 135(Pt 8): 2329-2336.
7.	Rilstone JJ, Coelho FM, Minassian BA, et al. Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. Epilepsia, 2012, 53(8): 1421-1428.
8.	Gitiaux C, Chemaly N, Quijano-Roy S, et al. Motor neuropathy contributes to crouching in patients with Dravet syndrome. Neurology, 2016, 87(3): 277-281.
9.	Catterall WA, Kalume F, Oakley JC. NaV1.1 channels and epilepsy. J Physiol, 2010, 588(Pt 11): 1849-1859.
10.	Akiyama M, Kobayashi K, Yoshinaga H, et al. A long-term follow-up study of Dravet syndrome up to adulthood. Epilepsia, 2010, 51(6): 1043-1052.
11.	Harkin LA, McMahon JM, Iona X, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain, 2007, 130(Pt 3): 843-852.
12.	Jansen FE, Sadleir LG, Harkin LA, et al. Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology, 2006, 67(12): 2224-2226.
13.	Meng H, Xu HQ, Yu L, et al. The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype. Hum Mutat, 2015, 36(6): 573-580.
14.	Rhodes TH, Lossin C, Vanoye CG, et al. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci USA, 2004, 101(30): 11147-11152.
15.	Wang J, Lin ZJ, Liu L, et al. Epilepsy-associated genes. Seizure, 2017, 44(6): 11-20.
16.	Ceulemans BPGM, Claes LRF, Lagae LG. Clinical correlationsof mutations in the SCN1A gene: from febrile seizures to severemyoclonic epilepsy in infancy. Pediatr Neurol, 2004, 30(3): 236-243.
17.	Kanai K, Yoshida S, Hirose S. ex situ Physicochemical propertychanges of amino acid residues that accompany missense mutationsin SCN1A affect epilepsy phenotype severity. J Med Genet, 2009, 46(2): 671-679.
18.	Ohmori I, Ouchida M, Kobayashi K, et al. SCNA1A variants may modify the epileptic phenotype of Dravet syndrome. Neurobiol Dis, 2013, 50: 209-217.
19.	Singh NA, Pappas C, Dahle EJ, et al. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet, 2009, 5(9): e1000649.
20.	Long YS, Zhao QH, Su T, et al. Identification of the promoter region and the 5'-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5'-untranslated exons. J Neurosci Res, 2008, 86(15): 3375-3381.
21.	Cetica V, Chiari S, Mei D, et al. Clinical and genetic factors predicting Dravet syndrome in infants with Neurology, 2017, 88(11): 1037-1044.
22.	Hattori J, Ouchida M, Ono J, et al. A screening test for the prediction of Dravet syndrome before one year of age. Epilepsia, 2008, 49(4): 626-633.
23.	Ragona F. Cognitive development in children with Dravet syndrome. Epilepsia, 2011, 52(Suppl 2): 39-43.
24.	Helbig I, Heinzen EL, Mefford HC; ILAE Genetics Commission. Primer Part 1-The building blocks of epilepsy genetics. Epilepsia, 2016, 57(6): 861-868.
25.	Nabbout R, Chemaly N, Chipaux M. ex situ Encephalopathy inchildren with Dravet syndrome is not a pure consequence of epilepsy. Orphanet J Rare Dis, 2013, 8: 176.
26.	Wolff M, Cassé-Perrot C, Dravet C. Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia, 2006, 47(4): 45-48.
27.	Guerrini R, Dravet C, Genton P, et al. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia, 1998, 39(5): 508-512.
28.	Ceulemans B. Overall management of patients with Dravet syndrome. Dev Med Child Neurol, 2011, 53(Suppl 2): 19-23.
29.	Guerrini R, Falchi M. Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants. Dev Med Child Neurol, 2011, 53(Suppl 2): 11-15.
30.	Brunklaus A, Dorris L, Ellis R, et al. The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Dev Med Child Neurol, 2013, 55(2): 154-161.
31.	Bremer A, Lossius MI, Nakken KO. Dravet syndrome-considerable delay in making the diagnosis. Acta Neurol Scand, 2012, 125(5): 359-362.
32.	Lagae L, Brambilla I, Mingorance A, et al. Quality of life and comorbidities associated with Dravet syndrome severity: a multi-national cohort survey. Dev Med Child Neurol, 2018, 60(1): 63-72.
33.	de Lange IM, Koudijs MJ, van 't Slot R, et al. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes. Epilepsia, 2018, 59(3): 690-703.
34.	Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17(5): 405-424.
35.	Verbeek NE, van der Maas NA, Jansen FE, et al. Prevalence of SCN1A-related Dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. PLoS One, 2013, 8(6): e65758.
36.	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(6): 18-34.
37.	Catarino CB, Liu JY, Liagkouras I, et al. Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain, 2011, 134(Pt 10): 2982-3010.
38.	Dutton SBB, Dutt K, Papale LA, et al. Early-life febrile seizures worsen adult phenotypes in Scn1a mutants. Exp Neurol, 2017, 293: 159-171.
39.	Brunklaus A, Zuberi SM. Dravet syndrome-from epileptic encephalopathy to channelopathy. Epilepsia, 2014, 55(7): 979-984.
40.	Snoeijen-Schouwenaars FM, Veendrick MJ, van Mierlo P, et al. Carbamazepine and oxcarbazepine in adult patients with Dravet syndrome: Friend or foe? Seizure, 2015, 29: 114-118.
41.	Balestrini S, Sisodiya SM. Pharmacogenomics in epilepsy. Neurosci Lett, 2018, 667: 27-39.
42.	Chouchi M, Kaabachi W, Klaa H, et al. Relationship between ABCB1 3435TT genotype and antiepileptic drugs resistance in Epilepsy: updated systematic review and meta-analysis. BMC Neurol, 2017, 17(1): 32.

1. Zuberi SM, Brunklaus A, Birch R, et al. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology, 2011, 76(7): 594-600.
2. Takayama R, Fujiwara T, Shigematsu H, et al. Long-term course of Dravet syndrome: a study from an epilepsy center in Japan. Epilepsia, 2014, 55(4): 528-538.
3. Singh R, Andermann E, Whitehouse WP, et al. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia, 2001, 42(7): 837-844.
4. Sadleir LG, Mountier EI, Gill D, et al. Not all SCN1A epileptic encephalopathies are Dravet syndrome. Neurology, 2017, 89(10): 1035-1042.
5. Fujiwara T. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res, 2006, 70(Suppl 1): 223-230.
6. Brunklaus A, Ellis R, Reavey E, et al. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain, 2012, 135(Pt 8): 2329-2336.
7. Rilstone JJ, Coelho FM, Minassian BA, et al. Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. Epilepsia, 2012, 53(8): 1421-1428.
8. Gitiaux C, Chemaly N, Quijano-Roy S, et al. Motor neuropathy contributes to crouching in patients with Dravet syndrome. Neurology, 2016, 87(3): 277-281.
9. Catterall WA, Kalume F, Oakley JC. NaV1.1 channels and epilepsy. J Physiol, 2010, 588(Pt 11): 1849-1859.
10. Akiyama M, Kobayashi K, Yoshinaga H, et al. A long-term follow-up study of Dravet syndrome up to adulthood. Epilepsia, 2010, 51(6): 1043-1052.
11. Harkin LA, McMahon JM, Iona X, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain, 2007, 130(Pt 3): 843-852.
12. Jansen FE, Sadleir LG, Harkin LA, et al. Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology, 2006, 67(12): 2224-2226.
13. Meng H, Xu HQ, Yu L, et al. The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype. Hum Mutat, 2015, 36(6): 573-580.
14. Rhodes TH, Lossin C, Vanoye CG, et al. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci USA, 2004, 101(30): 11147-11152.
15. Wang J, Lin ZJ, Liu L, et al. Epilepsy-associated genes. Seizure, 2017, 44(6): 11-20.
16. Ceulemans BPGM, Claes LRF, Lagae LG. Clinical correlationsof mutations in the SCN1A gene: from febrile seizures to severemyoclonic epilepsy in infancy. Pediatr Neurol, 2004, 30(3): 236-243.
17. Kanai K, Yoshida S, Hirose S. ex situ Physicochemical propertychanges of amino acid residues that accompany missense mutationsin SCN1A affect epilepsy phenotype severity. J Med Genet, 2009, 46(2): 671-679.
18. Ohmori I, Ouchida M, Kobayashi K, et al. SCNA1A variants may modify the epileptic phenotype of Dravet syndrome. Neurobiol Dis, 2013, 50: 209-217.
19. Singh NA, Pappas C, Dahle EJ, et al. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet, 2009, 5(9): e1000649.
20. Long YS, Zhao QH, Su T, et al. Identification of the promoter region and the 5'-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5'-untranslated exons. J Neurosci Res, 2008, 86(15): 3375-3381.
21. Cetica V, Chiari S, Mei D, et al. Clinical and genetic factors predicting Dravet syndrome in infants with Neurology, 2017, 88(11): 1037-1044.
22. Hattori J, Ouchida M, Ono J, et al. A screening test for the prediction of Dravet syndrome before one year of age. Epilepsia, 2008, 49(4): 626-633.
23. Ragona F. Cognitive development in children with Dravet syndrome. Epilepsia, 2011, 52(Suppl 2): 39-43.
24. Helbig I, Heinzen EL, Mefford HC; ILAE Genetics Commission. Primer Part 1-The building blocks of epilepsy genetics. Epilepsia, 2016, 57(6): 861-868.
25. Nabbout R, Chemaly N, Chipaux M. ex situ Encephalopathy inchildren with Dravet syndrome is not a pure consequence of epilepsy. Orphanet J Rare Dis, 2013, 8: 176.
26. Wolff M, Cassé-Perrot C, Dravet C. Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia, 2006, 47(4): 45-48.
27. Guerrini R, Dravet C, Genton P, et al. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia, 1998, 39(5): 508-512.
28. Ceulemans B. Overall management of patients with Dravet syndrome. Dev Med Child Neurol, 2011, 53(Suppl 2): 19-23.
29. Guerrini R, Falchi M. Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants. Dev Med Child Neurol, 2011, 53(Suppl 2): 11-15.
30. Brunklaus A, Dorris L, Ellis R, et al. The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Dev Med Child Neurol, 2013, 55(2): 154-161.
31. Bremer A, Lossius MI, Nakken KO. Dravet syndrome-considerable delay in making the diagnosis. Acta Neurol Scand, 2012, 125(5): 359-362.
32. Lagae L, Brambilla I, Mingorance A, et al. Quality of life and comorbidities associated with Dravet syndrome severity: a multi-national cohort survey. Dev Med Child Neurol, 2018, 60(1): 63-72.
33. de Lange IM, Koudijs MJ, van 't Slot R, et al. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes. Epilepsia, 2018, 59(3): 690-703.
34. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17(5): 405-424.
35. Verbeek NE, van der Maas NA, Jansen FE, et al. Prevalence of SCN1A-related Dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. PLoS One, 2013, 8(6): e65758.
36. 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(6): 18-34.
37. Catarino CB, Liu JY, Liagkouras I, et al. Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain, 2011, 134(Pt 10): 2982-3010.
38. Dutton SBB, Dutt K, Papale LA, et al. Early-life febrile seizures worsen adult phenotypes in Scn1a mutants. Exp Neurol, 2017, 293: 159-171.
39. Brunklaus A, Zuberi SM. Dravet syndrome-from epileptic encephalopathy to channelopathy. Epilepsia, 2014, 55(7): 979-984.
40. Snoeijen-Schouwenaars FM, Veendrick MJ, van Mierlo P, et al. Carbamazepine and oxcarbazepine in adult patients with Dravet syndrome: Friend or foe? Seizure, 2015, 29: 114-118.
41. Balestrini S, Sisodiya SM. Pharmacogenomics in epilepsy. Neurosci Lett, 2018, 667: 27-39.
42. Chouchi M, Kaabachi W, Klaa H, et al. Relationship between ABCB1 3435TT genotype and antiepileptic drugs resistance in Epilepsy: updated systematic review and meta-analysis. BMC Neurol, 2017, 17(1): 32.

Journal of Epilepsy

禁忌用药对 Dravet 综合征认知结局的影响及初次非高热性痫性发作年龄对 SCN1A 相关痫性发作表型的临床预测作用

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