热敏感相关癫痫的早期识别与诊断

doi:10.7499/j.issn.1008-8830.2105007

Abstract
Figure/Table
References(45)
Related Citation (15)
Read Tracking
Download Tracking

Download: PDF (1062 KB) HTML()
Export: BibTeX | EndNote (RIS) Supporting Info

Abstract Febrile seizures are the most common nervous system disease in childhood, and most children have a good prognosis. However, some epilepsy cases are easily induced by fever and are characterized by "fever sensitivity", and it is difficult to differentiate such cases from febrile seizures. Epilepsy related to fever sensitivity includes hereditary epilepsy with febrile seizures plus, Dravet syndrome, and PCDH19 gene-related epilepsy. This article mainly describes the clinical manifestations of these three types of epilepsy and summarizes their clinical features in the early stage of disease onset, so as to achieve early identification, early diagnosis, and early intervention to improve prognosis.

	Service

	E-mail this article
	Add to my bookshelf
	Add to citation manager
	E-mail Alert
	RSS
	Articles by authors
	XU Yu-Xin
	ZHONG Jian-Min

Key words： Febrile seizures Epilepsy Fever sensitivity Hereditary epilepsy with febrile seizures plus Dravet syndrome PCDH19 gene-related epilepsy Child

Received: 07 May 2021

Cite this article:

XU Yu-Xin,ZHONG Jian-Min. Early identification and diagnosis of epilepsy related to fever sensitivity[J]. CJCP, 2021, 23(7): 749-754.

URL:

http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2105007 OR http://www.zgddek.com/EN/Y2021/V23/I7/749

[1]	张月华. 热敏感相关的癫痫临床和分子遗传学研究[J]. 中国实用儿科杂志, 2015, 30(7):487-491. DOI:10.7504/ek2015070602.
[2]	Deng H, Zheng W, Song Z. The genetics and molecular biology of fever-associated seizures or epilepsy[J]. Expert Rev Mol Med, 2018, 20:e3. DOI:10.1017/erm.2018.2. PMID:29661262.
[3]	Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes[J]. Brain, 120(Pt 3):479-490. DOI:10.1093/brain/120.3.479. PMID:9126059.
[4]	Scheffer IE, Berg AT. Classification and clinical features of absence epilepsies:how evidence leads to changing concepts[J]. Epilepsia, 2008, 49(12):2140-2141. DOI:10.1111/j.1528-1167.2008.01904.x. PMID:19049570.
[5]	Engel J, International League Against Epilepsy (ILAE). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy:report of the ILAE Task Force on Classification and Terminology[J]. Epilepsia, 2001, 42(6):796-803. DOI:10.1046/j.1528-1157.2001.10401.x. PMID:11422340.
[6]	Zhang YH, Burgess R, Malone JP, et al. Genetic epilepsy with febrile seizures plus refining the spectrum[J]. Neurology, 2017, 89(12):1210-1219. DOI:10.1212/WNL.0000000000004384. PMID:28842445.
[7]	Myers KA, Scheffer IE, Berkovic SF, et al. Genetic literacy series:genetic epilepsy with febrile seizures plus[J]. Epileptic Disord, 2018, 20(4):232-238. DOI:10.1684/epd.2018.0985. PMID:30078767.
[8]	吴光声, 朱亚非, 李珊, 等. 3个全面性癫痫伴热性惊厥附加症家系的遗传学研究[J]. 中华全科医学, 2019, 17(7):1125-1127. DOI:10.16766/j.cnki.issn.1674-4152.000880.
[9]	田杨, 侯池, 王秀英, 等. STX1B基因突变致遗传性癫痫伴热性惊厥附加症一家系分析并文献复习[J]. 中华儿科杂志, 2019, 57(3):206-210. DOI:10.3760/cma.j.issn.0578-1310.2019.03.010. PMID:30818898.
[10]	Liu XW, Li WN, Han T, et al. The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS⁺) using targeted next-generation sequencing[J]. Clin Neurol Neurosurg, 2018, 169:86-91. DOI:10.1016/j.clineuro.2017.10.020. PMID:29635106.
[11]	王波, 马启玲, 陈光福, 等. SCN1A基因多态性与全面性癫痫伴热性惊厥附加症临床表型的关系[J]. 中国临床研究, 2018, 31(5):581-584. DOI:10.13429/j.cnki.cjcr.2018.05.002.
[12]	Myers KA, Shevell MI, Sébire G. Sudden unexpected death in GEFS⁺ families with sodium channel pathogenic variants[J]. Epilepsy Res, 2019, 150:66-69. DOI:10.1016/j.eplepsyres.2019.01.009. PMID:30660056.
[13]	秦雨, 洪思琦. 遗传性癫痫伴热性惊厥附加症研究进展[J]. 儿科药学杂志, 2021, 27(4):59-63. DOI:10.13407/j.cnki.jpp.1672-108X.2021.04.018.
[14]	方志旭, 蒋莉. 遗传性癫痫伴热性惊厥附加症的遗传学研究进展[J]. 中华实用儿科临床杂志, 2018, 33(12):949-953. DOI:10.3760/cma.j.issn.2095-428X.2018.12.020.
[15]	Shorvon S, Guerrini R, Schachter S, et al. The Causes of Epilepsy:Common and Uncommon Causes in Adults and Children[M]. 2nd ed. Cambridge:Cambridge University Press, 2019:154-157.
[16]	Wirrell EC, Laux L, Donner E, et al. Optimizing the diagnosis and management of Dravet syndrome:recommendations from a North American consensus panel[J]. Pediatr Neurol, 2017, 68:18-34.e3. DOI:10.1016/j.pediatrneurol.2017.01.025. PMID:28284397.
[17]	李莉, 朱丹丹. Dravet综合征患者SCN1A基因变异分析[J]. 中华医学遗传学杂志, 2021, 38(2):158-161. DOI:10.3760/cma.j.cn511374-20200120-00041. PMID:33565071.
[18]	田小娟, 张月华, 许小菁, 等. Dravet综合征670例患儿预后随访研究[J]. 中华实用儿科临床杂志, 2020, 35(12):890-893. DOI:10.3760/cma.j.cn101070-20191016-01002.
[19]	Wheless JW, Fulton SP, Mudigoudar BD. Dravet syndrome:a review of current management[J]. Pediatr Neurol, 2020, 107:28-40. DOI:10.1016/j.pediatrneurol.2020.01.005. PMID:32165031.
[20]	Esterhuizen AI, Mefford HC, Ramesar RS, et al. Dravet syndrome in South African infants:tools for an early diagnosis[J]. Seizure, 2018, 62:99-105. DOI:10.1016/j.seizure.2018.09.010. PMID:30321769. PMCID:PMC6261486.
[21]	Mei D, Cetica V, Marini C, et al. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies[J]. Epilepsia, 2019, 60(S3):S2-S7. DOI:10.1111/epi.16054. PMID:31904125.
[22]	Cross JH, Caraballo RH, Nabbout R, et al. Dravet syndrome:treatment options and management of prolonged seizures[J]. Epilepsia, 2019, 60(S3):S39-S48. DOI:10.1111/epi.16334. PMID:31904119.
[23]	Wirrell EC, Nabbout R. Recent advances in the drug treatment of Dravet syndrome[J]. CNS Drugs, 2019, 33(9):867-881. DOI:10.1007/s40263-019-00666-8. PMID:31549357.
[24]	刘晓燕. 临床脑电图学[M]. 2版. 北京:人民卫生出版社, 2017:325-328.
[25]	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[J]. 中华神经科杂志, 2010, 43(10):712-715. DOI:10.3760/cma.j.issn.1006-7876.2010.10.010.
[26]	Darra F, Battaglia D, Dravet C, et al. Dravet syndrome:early electroclinical findings and long-term outcome in adolescents and adults[J]. Epilepsia, 2019, 60(S3):S49-S58. DOI:10.1111/epi.16297. PMID:31904122.
[27]	de Lange IM, Gunning B, Sonsma ACM, et al. Outcomes and comorbidities of SCN1A-related seizure disorders[J]. Epilepsy Behav, 2019, 90:252-259. DOI:10.1016/j.yebeh.2018.09.041. PMID:30527252.
[28]	Cetica V, Chiari S, Mei D, et al. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations[J]. Neurology, 2017, 88(11):1037-1044. DOI:10.1212/WNL.0000000000003716. PMID:28202706. PMCID:PMC5384833.
[29]	Xu XJ, Zhang YH, Sun HH, et al. Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations[J]. Brain Dev, 2014, 36(8):676-681. DOI:10.1016/j.braindev.2013.10.004. PMID:24168886.
[30]	Hattori J, Ouchida M, Ono J, et al. A screening test for the prediction of Dravet syndrome before one year of age[J]. Epilepsia, 2008, 49(4):626-633. DOI:10.1111/j.1528-1167.2007.01475.x. PMID:18076640.
[31]	de Lange IM, Gunning B, Sonsma ACM, et al. Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes[J]. Epilepsia, 2018, 59(6):1154-1165. DOI:10.1111/epi.14191. PMID:29750338.
[32]	Gecz J, Thomas PQ. Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics[J]. Curr Opin Genet Dev, 2020, 65:169-175. DOI:10.1016/j.gde.2020.06.012. PMID:32726744.
[33]	Yang L, Liu J, Su QP, et al. Novel and de novo mutation of PCDH19 in girls clustering epilepsy[J]. Brain Behav, 2019, 9(12):e01455. DOI:10.1002/brb3.1455. PMID:31714027. PMCID:PMC6908879.
[34]	Samanta D. PCDH19-related epilepsy syndrome:a comprehensive clinical review[J]. Pediatr Neurol, 2020, 105:3-9. DOI:10.1016/j.pediatrneurol.2019.10.009. PMID:32057594.
[35]	Dibbens LM, Tarpey PS, Hynes K, et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment[J]. Nat Genet, 2008, 40(6):776-781. DOI:10.1038/ng.149. PMID:18469813. PMCID:PMC2756413.
[36]	张晓莉, 韩瑞, 牛国辉, 等. PCDH19基因突变相关癫痫的临床和遗传学特点研究[J]. 中华实用儿科临床杂志, 2020, 35(16):1256-1259. DOI:10.3760/cma.j.cn101070-20190615-00538.
[37]	刘爱杰, 许小菁, 孙丹, 等. 原钙黏蛋白19基因相关癫痫的遗传特点及临床表型谱研究[J]. 癫痫杂志, 2017, 3(4):283-291. DOI:10.7507/2096-0247.20170042.
[38]	Trivisano M, Pietrafusa N, Terracciano A, et al. Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy:a multicenter study[J]. Epilepsia, 2018, 59(12):2260-2271. DOI:10.1111/epi.14600. PMID:30451291.
[39]	Liu A, Xu X, Yang X, et al. The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population[J]. Clin Genet, 2017, 91(1):54-62. DOI:10.1111/cge.12846. PMID:27527380.
[40]	Trivisano M, Pietrafusa N, Ciommo Vd, et al. PCDH19-related epilepsy and Dravet Syndrome:face-off between two early-onset epilepsies with fever sensitivity[J]. Epilepsy Res, 2016, 125:32-36. DOI:10.1016/j.eplepsyres.2016.05.015. PMID:27371789.
[41]	Chemaly N, Losito E, Pinard JM, et al. Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation[J]. Epileptic Disord, 2018, 20(6):457-467. DOI:10.1684/epd.2018.1009. PMID:30530412.
[42]	Smith L, Singhal N, El Achkar CM, et al. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum[J]. Epilepsia, 2018, 59(3):679-689. DOI:10.1111/epi.14003. PMID:29377098. PMCID:PMC6264912.
[43]	Trivisano M, Lucchi C, Rustichelli C, et al. Reduced steroidogenesis in patients with PCDH19-female limited epilepsy[J]. Epilepsia, 2017, 58(6):e91-e95. DOI:10.1111/epi.13772. PMID:28471529.
[44]	陈奕, 杨小玲, 刘爱杰, 等. PCDH19基因变异导致女性癫痫患儿的临床特点[J]. 中华儿科杂志, 2019, 57(11):857-862. DOI:10.3760/cma.j.issn.0578?1310.2019.11.008. PMID:31665840.
[45]	Higurashi N, Takahashi Y, Kashimada A, et al. Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy[J]. Seizure, 2015, 27:1-5. DOI:10.1016/j.seizure.2015.02.006. PMID:25891919.