A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
作者:
主题词
成年人(Adult);染色体图(Chromosome Mapping);染色体, 人, 2对(Chromosomes, Human, Pair 2);染色体, 人, 5对(Chromosomes, Human, Pair 5);脑电描记术(Electroencephalography);肌电描记术(Electromyography);癫痫, 肌阵挛性(Epilepsies, Myoclonic);诱发电位, 躯体感觉(Evoked Potentials, Somatosensory);女(雌)性(Female);步态共济失调(Gait Ataxia);基因连锁(Genetic Linkage);单倍型(Haplotypes);人类(Humans);男(雄)性(Male);中年人(Middle Aged);系谱(Pedigree);青年人(Young Adult)
DOI
10.1111/epi.12216
PMID
23663087
发布时间
2013-10-30
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Epilepsia
1298-306页
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