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第68例——癫痫伴发作性双下肢无力 被引量:1

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摘要 病历摘要 患者男性,19岁,因“反复肢体抽动19年,伴发作性双下肢无力6年”于2007年11月收入院。患者自出生数月后无明显诱因反复出现右上肢突发性不自主屈曲抽动,左侧上下肢偶见类似表现,每次持续数秒,不伴意识丧失,精神紧张或情绪波动时症状加重。
出处 《中华神经科杂志》 CAS CSCD 北大核心 2010年第8期589-591,共3页 Chinese Journal of Neurology
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参考文献4

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同被引文献20

  • 1王卫庆,姜蕾,朱娜,叶蕾,苏颋为,俞放,赵咏桔,李小英,宁光.中国人低血钾性周期性麻痹家系:SCN4A新突变位点[J].中华内分泌代谢杂志,2004,20(6):523-526. 被引量:17
  • 2郭秀海,吴卫平,丁素菊,张雁华,朱克.家族性高钾型周期性麻痹的SCN4A基因突变[J].中华神经科杂志,2005,38(4):228-231. 被引量:7
  • 3任翔,卜碧涛,姚淇,邱昕,刘静宇,王擎,刘木根.一中国正常血钾周期性麻痹家系中的SCN4A基因的T704M突变[J].遗传,2006,28(8):923-926. 被引量:14
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  • 6Sternberg D,Maisonobe T,Jurkat-Rott K. Hypokalemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A[J].BRAIN,2001,(Pt 4):1091-1099.
  • 7Miller TM,Dias da Silva MR,Miller HA. Correlating phenotype and genotype in the periodic paralyses[J].NEUROLOGY,2004.1647-1655.
  • 8Luan X,Chen B,Liu Y. Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A[J].NEUROPATHOLOGY,2009.579-584.
  • 9Ke Q,Luo B,Qi M. Gender differences in penetrance and phenotype in hypokalemic periodic paralysis[J].Muscle & Nerve,2013.41-45.
  • 10Kung AW,Lau KS,Fong GC. Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis[J].Journal of Clinical Endocrinology and Metabolism,2004.1340-1345.

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