摘要
家族性皮质肌阵挛震颤性癫痫于1990年由IKeda等首先报道,到2008年,全世界仅有50个分别来自日本、荷兰、晤班牙等同的家系确诊本病。我国目前仅有1例无家族史的该病患者报道,现将笔者发现的1个完整家系报道如下。
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2013年第6期430-431,共2页
Chinese Journal of Neurology
参考文献5
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二级参考文献6
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同被引文献39
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1高瑜,魏晓珊,王玉平.青少年肌阵挛癫痫的临床和电生理特征及抗癫痫药物疗效分析[J].癫痫杂志,2016,2(1):9-13. 被引量:4
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2龙莉莉,肖波,王康,李国良,曾艺,刘卫平.良性成人家族性肌阵挛癫痫三家系临床特点分析[J].国际神经病学神经外科学杂志,2007,34(1):13-16. 被引量:3
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6Mikami M, Yasuda T, Terao A, et al. Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8@3.3- @4. l[J]. Am J Hum Genet, 1999, 65(3) : 745-751.
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7Suppa A, Berardelli A, Brancati F, et al. Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy[ J]. Epilepsia, 2009, 50(5) : 1284-1288.
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8Licchetta L, Pippucci T, Bisulli F, et al. A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype[ J]. Epilepsia, 2013, 54 (7) : 1298-1306.
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9Magnin E, Vidailhet M, Depienne C, et al. Familial cortical myoclonic tremor with epilepsy (FCMTE) : Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family [J]. Rev Neurol (Paris), 2009, 165(10): 812-820.
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10Guerrini R, Bonanni P, Ptarmigan A, et al. Autosomal dominantcortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2pll. 1-q12,2 [ J]. Brain, 2001, 124(Pt 12) : 2459-2475.
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3杜昂鹰,张家文.家族性卵巢癌一家系报道[J].四川肿瘤防治,2006,19(2):153-154.
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4李峻,郑名芳,李红,白洁茹,王玉玲.家族性肥厚型心肌病家系三代6例报告[J].中国超声诊断杂志,2004,5(4):307-308.
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5高秀丽,张建刚,唐春萍,陈娜.重组人干扰素α-2b雾化吸入辅治小儿手足口病的效果观察[J].临床合理用药杂志,2015,8(28):76-77. 被引量:4
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6张杰,陈绍昀,喻厚丰,李良政,周全刚.头孢曲松钠致肌阵挛1例[J].现代中西医结合杂志,2007,16(19):2731-2731. 被引量:2
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7杜娟.头孢吡肟致精神障碍肌阵挛1例[J].中国保健营养(下半月),2013,0(5):1355-1355. 被引量:1
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8施亚娟,张卫东,吴秀清.胆结石并胆囊炎为首发的遗传性球形红细胞增多症一例并家系报道[J].中国医师进修杂志,2014,37(5):78-78.
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10李露霞,傅建华.inv(13)(p12;q14)一家系报道[J].遗传,1994,16(3):10-10.