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家族性皮质肌阵挛性震颤伴癫痫1例报告 被引量:2

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摘要 家族性皮质肌阵挛性震颤伴癫痫(familial cortical myoclonic tremor with epilepsy,FCMTE)又称良性成人家族性肌阵挛性癫痫(Benigh adult familial myoclonic epilepsy,BAFME)是一种少见的神经系统常染色体显性遗传病。该病多于成年期发病,以震颤、肌阵挛伴或不伴癫痫发作为主要临床表现。
出处 《中风与神经疾病杂志》 CAS 2022年第2期173-174,共2页 Journal of Apoplexy and Nervous Diseases
关键词 家族性皮质肌阵挛性震颤伴癫痫 TNRC6A基因 Familial cortical myoclonic tremor with epilepsy TNRC6A gene
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  • 9Guerrini 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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