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家族性皮质肌阵挛震颤性癫痫一家系 被引量:2

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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。
作者 王凤楼
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
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参考文献5

  • 1Van Rootselaar AI', van Schai k IN, van den Maagdenberg AM, et al. Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of prdigrees bearing common features. Mov Disord , 2005, 20: 665-673.
  • 2吴英,崔志堂,刘杰,滕晔,曹丽华,刘兴洲.皮质肌阵挛震颤伴癫痫一例[J].中华神经科杂志,2013,46(5):353-354. 被引量:1
  • 3Striano P, Zaxa F, Striano S, et al. Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. Acta Neurol Scand , 2005, III: 211-217.
  • 4Regragui W, Cerclelat-Mas A, Simonetta-Moreau M. Cortical tremor (FCMTE: familial coutical myoclcnic tremor with epilepsy). Neurophysiol Clin , 2006, 36: 345-349.
  • 5Okuma Y, Shimo Y, Shimura H, el. al. Familial cortical tremor with epilepsy: an under-recognized familial tremor. Clin Neural Neurosurg, 1998, 100 :75-78.

二级参考文献6

  • 1Ikeda A, Kakigi R, Funai N, et al. Cortical tremor: a variant of cortical reflex myoclonus. Neurology, 1990,40 : 1561-1565.
  • 2Striano P, Zara F, Straino S. Autosamal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. Acta Neurol Scand ,2005,111:211-217.
  • 3van Rootselaar AF, van Schaik IN, van den Maagdenberg AM, et al. Familial corital myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features. Mov Disord,2005,20:665-673.
  • 4Regragui W, Gerdelat-Mas A, Simonetta-Moreau M. Cortical tremor( FCMTE: familial corital myoclonic tremor with epilepsy). Neurophysiol Clin ,2006,36:345-349.
  • 5van Rootselaar AF, Maurits NM, Koelman JH, et al. Coherence analysis differentiates between cortical myoelonic tremor and essential tremor. Mov Disord,2006,21:215-222.
  • 6王晔,郭大文,王德生.家族性皮质肌阵挛震颤性癫痫[J].国际神经病学神经外科学杂志,2008,35(4):321-324. 被引量:1

同被引文献39

  • 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
  • 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
  • 3Inazuki G, Naito H, Ohama E, et al. A clinical study and neuropathological findings of a familial disease with myoclonus and epilepsy-the nosological place of familial essential myoclonus and epilepsy ( FEME ) [ J ]. [ Article in Japanese ]. Seishin Shinkeigaku Zasshi, 1990, 92 ( 1 ) : 1-21.
  • 4van Rootselaar AF, van Schaik IN, van den Maagdenberg AM, et al. Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features[J]. Mov Disord, 2005, 20(6): 665-673.
  • 5Crompton DE, Sadleir LG, Bremhead C J, et al. Familial adult myoclonic epilepsy : recognition of mild phenotypes and refinement of the 2q locus[J]. Arch Neurol, 2012, 69(4) : 474481.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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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