摘要
青少年肌阵挛性癫痫（juvenile myoclonic epilepsy,JME）是常见的特发性全面性癫痫（IGE）综合征之一,以肌阵挛发作为突出表现,占全部癫痫的5%～10%[1],对不典型表现者临床容易漏诊误诊.本研究回顾性分析我院癫痫专病门诊诊断的21例JME患者的临床表现、脑电图（EEG）特点、诱发因素、误诊原因及药物疗效,以提高临床对此类疾病的认识.
出处
《癫痫与神经电生理学杂志》
2010年第5期315-316,共2页
Journal of Epileptology and Electroneurophysiology(China)
参考文献5
-
1赵倩华,洪震.少年肌阵挛癫痫[J].国外医学（神经病学．神经外科学分册）,2004,31(2):124-127. 被引量：3
-
2沈鼎烈,王学峰主编.临床癫学[M].第2版.上海:上海科学技术出版社,2007:209-210.
-
3刘照,肖波.青少年肌阵挛性癫痫的研究动态[J].卒中与神经疾病,2005,12(4):249-250. 被引量：3
-
4Mehndiratta MM,Aggarwal P.Clinical expression and EEG features of patients with juvenile myoclonic epilepsy from North India[J].Seizure,2002,11(7):431-436.
-
5Montalenti E,Imperiale D,Rovera A,et al.Clinical features,EEG findings and diagnostic pitfall in juvenile myoclonic epilepsy:a series of 63 patients[J].J Neurol Sci,2001,184(1):65-72.
二级参考文献35
-
1Escayg A, De Waard M, Lee DD, et al.Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet, 2000, 66(5): 1531-1539.
-
2Cossette P, Liu L, Brisebois K, et al.Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet, 2002, 31(2): 184-189.
-
3Haug k, Warnstedt M, Alekov AK, et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet, 2003, 33(4):527-532.
-
4Suzuki T, Delgado-Escueta AV, Aguan K, et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet,2004, 36(8): 842-849.
-
5Pal DK, Evgrafov OV, Tabares P, et al.BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet, 2003, 73(2): 261-270.
-
6Taske NL, Williamson MP, Makoff A, et al. Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus ( EJM2 ) on chromosome 15q13-14. Epilepsy Res, 2002, 49(2):157-172.
-
7Mas C, Taske N, Deutsch S, et al. Association of the connexin36 gene with juvenile myoclonic epilepsy. J Med Genet,2004, 41(7): 93-100.
-
8Montalenti E, Imperiale D, Rovera A, et al. Clinical features, EEG findings and diagnostic pitfall in juvenile myoclonic epilepsy: a series of 63 patients. J Neurol Sci, 2001, 184(1): 65-72.
-
9Panzica F, Rubboli G, Franceschetti S, et al. Cortical myoclonus in Janzsyndrome.Clin Neurophysiol, 2001, 112(10): 1803-1809.
-
10Janz D. Epilepsy with grand mal on awakening and sleep-waking cycle. Clin Neurophysiol, 2000, 111 (2): S103-110.
共引文献4
-
1郝静,彭炳蔚,牛好敏,郭月叶.青少年肌阵挛癫痫18例误诊情况分析[J].中风与神经疾病杂志,2006,23(4):499-500. 被引量：1
-
2陈金星.妥泰治疗青少年肌阵挛性癫痫疗效观察[J].浙江预防医学,2008,20(3):84-84.
-
3王峰.颞叶梗死继发复杂部分性癫持续状态临床分析[J].中国实用神经疾病杂志,2010,13(10):48-49. 被引量：1
-
4吕玉丹,孟红梅,陈禹,林卫红.31例青少年肌阵挛性癫痫临床表现脑电图特点及误诊分析[J].中风与神经疾病杂志,2011,28(4):327-329. 被引量：5
-
1王凤楼.左乙拉西坦治疗青少年肌阵挛癫痫初步探讨[J].癫痫与神经电生理学杂志,2011,20(1):25-27. 被引量：5
-
2田金英,尤群生,李卫.青少年肌阵挛癫痫12例临床特点及误诊分析[J].中国误诊学杂志,2008,8(30):7418-7419.
-
3刘刚,孙伟.青少年肌阵挛癫痫患者额叶的变化研究进展[J].中华临床医师杂志（电子版）,2012,6(24):8205-8206. 被引量：1
-
4廖广红,孙道开.青少年肌阵挛性癫痫持续状态2例[J].实用儿科临床杂志,1997,12(1):64-64.
-
5吕玉丹,孟红梅,陈禹,林卫红.31例青少年肌阵挛性癫痫临床表现脑电图特点及误诊分析[J].中风与神经疾病杂志,2011,28(4):327-329. 被引量：5
-
6王道强,刘建稳,张卫华,李支援.青少年肌阵挛性癫[J].中国临床神经科学,2007,15(5):551-553.
-
7石岩芳,王玉平.青少年肌阵挛性癫痫20例临床特点分析[J].中国神经精神疾病杂志,2008,34(4):235-237. 被引量：4
-
8杨飞,罗程,蒋思思,王晓明.青少年肌阵挛癫痫脑网络的研究进展[J].中华神经科杂志,2015,48(7):620-622. 被引量：3
-
9陈金星.妥泰治疗青少年肌阵挛性癫痫疗效观察[J].浙江预防医学,2008,20(3):84-84.
-
10罗忠,徐祖才.典型青少年肌阵挛癫痫1例报告[J].癫痫与神经电生理学杂志,2016,25(3):189-190.
