出生后一年内癫痫综合征的发病率与预后:一项基于人群的回顾性研究_Journal of Epilepsy

Authors：

 EijaGaily , MarkusLommi , RistoLapatto , 童馨 , 慕洁

Corresponding author：

EijaGaily, Email: eija.gaily@hus.fi

Keywords：

婴儿癫痫; 发病率; 癫痫综合征; 预后

DOI：

10.7507/2096-0247.20170068

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基于人群的婴儿癫痫综合征研究尚不足。该研究的目的在于，从人群中一组出生后1年内起病的癫痫患儿中，提炼出有关综合征发病率及预后的数据。纳入1997年-2006年间住在赫尔辛基大学医院服务区域的所有12月龄内起病的癫痫患儿。通过查看所有患儿病历资料，根据医院的统计数据确认可否纳入研究。再对从患儿病历资料中总结出癫痫综合征、起病年龄、病因，以及在24个月龄时的结局进行了再评估。共158例婴儿达到了纳入标准，其中92%随访满24个月或死亡。出生后第1年的癫痫发病率为124/10万。根据国际抗癫痫联盟(ILAE)癫痫分类标准修正版，其中58%可被归类为某种癫痫综合征。最常见的癫痫综合征为West综合征(41/10万)和良性家族性或非家族性婴儿癫痫(22/10万)。35%的病因为结构-代谢性，17%为基因性，还有48%病因不明。起病早与结构-代谢性病因相关。有7例(4.4%)患儿在2岁以前死亡。1例有SCN2A基因突变的患儿死于癫痫猝死。研究显示良性家族性及非家族性婴儿癫痫比以往的估计更为高发，仅次于West综合征。起病早并不是预后差的独立危险因素。

Citation： EijaGaily, MarkusLommi, RistoLapatto, 童馨, 慕洁. 出生后一年内癫痫综合征的发病率与预后:一项基于人群的回顾性研究. Journal of Epilepsy, 2017, 3(5): 430-437. doi: 10.7507/2096-0247.20170068 Copy

1.	Olafsson E, Ludvigsson P, Gudmundsson G, et al.Incidence of unprovoked seizures and epilepsy in Iceland and assessment of the epilepsy syndrome classification: a prospective study.Lancet Neurol, 2005, 12(4): 627-634.
2.	Wirrell EC, Grossardt BR, Wong-Kisiel LCL, et al.Incidence and classification of new-onset epilepsy and epilepsy syndromes in children in Olmsted County, Minnesota from 1980 to 2004: a populationbased study.Epilepsy Res, 2011, 95(7): 110-118.
3.	Chevrie JJ, Aicardi J.Convulsive disorders in the first year of life: neurological and mental outcome and mortality.Epilepsia, 1978, 19(2): 67-74.
4.	Cavazzuti GB, Ferrari P, Lalla M.Follow-up study of 482 cases with convulsive disorders in the first year of life.Dev Med Child Neurol, 1984, 26(11): 425-437.
5.	Czochanska J, Langner-Tyszka B, Losiowski Z, et al.Children who develop epilepsy in the first year of life: a prospective study.Dev Med Child Neurol, 1994, 36(4): 344-350.
6.	Battaglia D, Rand"o T, Deodato F, et al.Epileptic disorders with onset in the first year of life: neurological and cognitive outcome.Eur J Paediatr Neurol, 1999, 3(7): 95-103.
7.	Datta AN, Wirrell EC.Prognosis of seizures occurring in the first year.Pediatr Neurol, 2000, 22(4): 386-391.
8.	Dravet C.Les epilepsies graves de l'enfant.Vie Med, 1978, 8(1): 543-548.
9.	Kaplan R, Lacey D.Benign familial neonatal-infantile seizures.Am J Med Genet, 1983, 16(5): 595-599.
10.	Watanabe K, Yamamoto N, Negoro T, et al.Benign complex partial epilepsies in infancy.Pediatr Neurol, 1987, 3(9): 208-211.
11.	Vigevano F, Fusco L, Di Capua M, et al.Benign infantile familial convulsions.Eur J Paediatr, 1992, 151(3): 608-612.
12.	Coppola G, Plouin P, Chiron C, et al.Migrating partial seizures in infancy: a malignant disorder with developmental arrest.Epilepsia, 1995, 36(4): 1017-1024.
13.	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(10): 676-685.
14.	Riikonen R.A long-term follow-up study of 214 children with the syndrome of infantile spasms.Neuropediatrics, 1982, 13(2): 14-23.
15.	Sidenvall R, Eeg-Olofsson O.Epidemiology of infantile spasms in sweden.Epilepsia, 1995, 36(6): 572-574.
16.	Granstrom ML, Gaily E, Liukkonen E.Treatment of infantile spasms: results of a population-based study with vigabatrin as the first drug for spasms.Epilepsia, 1999, 40(2): 950-957.
17.	Eltze CM, Chong WK, Cox T, et al.A population-based study of newly diagnosed epilepsy in infants.Epilepsia, 2013, 54(9): 437-445.
18.	Rantala H, Ingalsuo H.Occurrence and outcome of epilepsy in children younger than 2 years.J Pediatr, 1999, 135(8): 761-764.
19.	Thomas RH, Berkovic SF.The hidden genetics of epilepsy-a clinically important new paradigm.Nat Rev Neurol, 2014, 10(7): 283-292.
20.	Okumura A, Hayakawa F, Kato T, et al.Early recognition of benign partial epilepsy in infancy.Epilepsia, 2000, 41(11): 714-717.
21.	Dravet C.The core Dravet syndrome phenotype.Epilepsia, 2011, 52(Suppl.2): 3-9.
22.	Freitag CM, May TW, Pfafflin M, et al.Incidence of epilepsies and epileptic syndromes in children and adolescents: a population-based prospective study in Germany.Epilepsia, 2001, 42(6): 979-985.
23.	Okumura A, Hayakawa F, Kuno K, et al.Benign partial epilepsy in infancy.Arch Dis Child, 1996, 74(7): 19-21.
24.	Osborne JP, Lux AL, Edwards SW, et al.The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification.Epilepsia, 2010, 51(2): 2168-2174.
25.	Brunklaus A, Ellis R, Reavey E, et al.Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.Brain, 2012, 135(12): 2329-2336.
26.	Bayat A, Hjalgrim H, Müller 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(3): e36-39.
27.	Chiron C, Marchand MC, Tran A, et al.Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndromededicated trial.Lancet, 2000, 356(11): 1638-1642.
28.	McTague A, Appleton R, Avula S, et al.Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.Brain, 2013, 136(1): 1578-1591.
29.	Berkovic SF, Heron SE, Giordano L, et al.Benign familial neonatal infantile seizures: characterization of a new sodium channelopathy.Ann Neurol, 2004, 55(5): 550-557.
30.	Schwartz N, Hahn A, Bast T, et al.Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.J Neurol, 2016, 263(10): 334-343.
31.	Lim BC, Hwang H, Kim H, et al.Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: migrating partial seizures of infancy or atypical Dravet syndrome.Epilepsy Res, 2015, 109(9): 34-39.
32.	Moseley BD, Wirrell EC, Wong-Kisiel LC, et al.Early onset epilepsy is associated with increased mortality: a population-based study.Epilepsy Res, 2013, 105(8): 410-414.
33.	Massey CA, Sowers LP, Dlouhy BJ, et al.Mechanisms of sudden unexpected death in epilepsy: the pathway to prevention.Nat Rev Neurol, 2014, 10(2): 271-282.
34.	Wagnon JL, Meisler MH.Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy.Front Neurol, 2015, 6(3): 104.
35.	Dulac O, Plouin P, Jambaque I.Predicting favorable outcome in idiopathic west syndrome.Epilepsia, 1993, 34(10): 747-756.
36.	Vigevano F, Fusco L, Cusmai R, et al.The idiopathic form of west syndrome.Epilepsia, 1993, 34(5): 743-746.
37.	Camfield CS, Camfield PR, Gordon K, et al.Incidence of epilepsy in childhood and adolescence: a population-based study in nova scotia from 1977 to 1985.Epilepsia, 1996, 37(10): 19-23.
38.	Kurtz Z, Tookey P, Ross E.Epilepsy in young people: 23 year follow up of the british national child development study.BMJ, 1998, 316(2): 339-342.
39.	Durea-Travee T, Yoldi-Petri ME, Gallinas-Victoriano F.Incidence of epilepsies and epileptic syndromes among children in navarre, Spain: 2002 through 2005.J Child Neurol, 2008, 23(10): 878-882.
40.	Casetta I, Pugliatti M, Faggioli R, et al.Incidence of childhood and adolescence epilepsy: a community-based prospective study in the province of Ferrara and in copparo, Italy, 1996-2005.Eur J Neurol, 2012, 19(9): 312-316.

1. Olafsson E, Ludvigsson P, Gudmundsson G, et al.Incidence of unprovoked seizures and epilepsy in Iceland and assessment of the epilepsy syndrome classification: a prospective study.Lancet Neurol, 2005, 12(4): 627-634.
2. Wirrell EC, Grossardt BR, Wong-Kisiel LCL, et al.Incidence and classification of new-onset epilepsy and epilepsy syndromes in children in Olmsted County, Minnesota from 1980 to 2004: a populationbased study.Epilepsy Res, 2011, 95(7): 110-118.
3. Chevrie JJ, Aicardi J.Convulsive disorders in the first year of life: neurological and mental outcome and mortality.Epilepsia, 1978, 19(2): 67-74.
4. Cavazzuti GB, Ferrari P, Lalla M.Follow-up study of 482 cases with convulsive disorders in the first year of life.Dev Med Child Neurol, 1984, 26(11): 425-437.
5. Czochanska J, Langner-Tyszka B, Losiowski Z, et al.Children who develop epilepsy in the first year of life: a prospective study.Dev Med Child Neurol, 1994, 36(4): 344-350.
6. Battaglia D, Rand"o T, Deodato F, et al.Epileptic disorders with onset in the first year of life: neurological and cognitive outcome.Eur J Paediatr Neurol, 1999, 3(7): 95-103.
7. Datta AN, Wirrell EC.Prognosis of seizures occurring in the first year.Pediatr Neurol, 2000, 22(4): 386-391.
8. Dravet C.Les epilepsies graves de l'enfant.Vie Med, 1978, 8(1): 543-548.
9. Kaplan R, Lacey D.Benign familial neonatal-infantile seizures.Am J Med Genet, 1983, 16(5): 595-599.
10. Watanabe K, Yamamoto N, Negoro T, et al.Benign complex partial epilepsies in infancy.Pediatr Neurol, 1987, 3(9): 208-211.
11. Vigevano F, Fusco L, Di Capua M, et al.Benign infantile familial convulsions.Eur J Paediatr, 1992, 151(3): 608-612.
12. Coppola G, Plouin P, Chiron C, et al.Migrating partial seizures in infancy: a malignant disorder with developmental arrest.Epilepsia, 1995, 36(4): 1017-1024.
13. 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(10): 676-685.
14. Riikonen R.A long-term follow-up study of 214 children with the syndrome of infantile spasms.Neuropediatrics, 1982, 13(2): 14-23.
15. Sidenvall R, Eeg-Olofsson O.Epidemiology of infantile spasms in sweden.Epilepsia, 1995, 36(6): 572-574.
16. Granstrom ML, Gaily E, Liukkonen E.Treatment of infantile spasms: results of a population-based study with vigabatrin as the first drug for spasms.Epilepsia, 1999, 40(2): 950-957.
17. Eltze CM, Chong WK, Cox T, et al.A population-based study of newly diagnosed epilepsy in infants.Epilepsia, 2013, 54(9): 437-445.
18. Rantala H, Ingalsuo H.Occurrence and outcome of epilepsy in children younger than 2 years.J Pediatr, 1999, 135(8): 761-764.
19. Thomas RH, Berkovic SF.The hidden genetics of epilepsy-a clinically important new paradigm.Nat Rev Neurol, 2014, 10(7): 283-292.
20. Okumura A, Hayakawa F, Kato T, et al.Early recognition of benign partial epilepsy in infancy.Epilepsia, 2000, 41(11): 714-717.
21. Dravet C.The core Dravet syndrome phenotype.Epilepsia, 2011, 52(Suppl.2): 3-9.
22. Freitag CM, May TW, Pfafflin M, et al.Incidence of epilepsies and epileptic syndromes in children and adolescents: a population-based prospective study in Germany.Epilepsia, 2001, 42(6): 979-985.
23. Okumura A, Hayakawa F, Kuno K, et al.Benign partial epilepsy in infancy.Arch Dis Child, 1996, 74(7): 19-21.
24. Osborne JP, Lux AL, Edwards SW, et al.The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification.Epilepsia, 2010, 51(2): 2168-2174.
25. Brunklaus A, Ellis R, Reavey E, et al.Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.Brain, 2012, 135(12): 2329-2336.
26. Bayat A, Hjalgrim H, Müller 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(3): e36-39.
27. Chiron C, Marchand MC, Tran A, et al.Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndromededicated trial.Lancet, 2000, 356(11): 1638-1642.
28. McTague A, Appleton R, Avula S, et al.Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.Brain, 2013, 136(1): 1578-1591.
29. Berkovic SF, Heron SE, Giordano L, et al.Benign familial neonatal infantile seizures: characterization of a new sodium channelopathy.Ann Neurol, 2004, 55(5): 550-557.
30. Schwartz N, Hahn A, Bast T, et al.Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.J Neurol, 2016, 263(10): 334-343.
31. Lim BC, Hwang H, Kim H, et al.Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: migrating partial seizures of infancy or atypical Dravet syndrome.Epilepsy Res, 2015, 109(9): 34-39.
32. Moseley BD, Wirrell EC, Wong-Kisiel LC, et al.Early onset epilepsy is associated with increased mortality: a population-based study.Epilepsy Res, 2013, 105(8): 410-414.
33. Massey CA, Sowers LP, Dlouhy BJ, et al.Mechanisms of sudden unexpected death in epilepsy: the pathway to prevention.Nat Rev Neurol, 2014, 10(2): 271-282.
34. Wagnon JL, Meisler MH.Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy.Front Neurol, 2015, 6(3): 104.
35. Dulac O, Plouin P, Jambaque I.Predicting favorable outcome in idiopathic west syndrome.Epilepsia, 1993, 34(10): 747-756.
36. Vigevano F, Fusco L, Cusmai R, et al.The idiopathic form of west syndrome.Epilepsia, 1993, 34(5): 743-746.
37. Camfield CS, Camfield PR, Gordon K, et al.Incidence of epilepsy in childhood and adolescence: a population-based study in nova scotia from 1977 to 1985.Epilepsia, 1996, 37(10): 19-23.
38. Kurtz Z, Tookey P, Ross E.Epilepsy in young people: 23 year follow up of the british national child development study.BMJ, 1998, 316(2): 339-342.
39. Durea-Travee T, Yoldi-Petri ME, Gallinas-Victoriano F.Incidence of epilepsies and epileptic syndromes among children in navarre, Spain: 2002 through 2005.J Child Neurol, 2008, 23(10): 878-882.
40. Casetta I, Pugliatti M, Faggioli R, et al.Incidence of childhood and adolescence epilepsy: a community-based prospective study in the province of Ferrara and in copparo, Italy, 1996-2005.Eur J Neurol, 2012, 19(9): 312-316.

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出生后一年内癫痫综合征的发病率与预后:一项基于人群的回顾性研究

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