A new clinical entity in T704M mutation in periodic paralysis
Journal of Clinical Neuroscience(2020)
摘要
•Different SCN4A gene mutations cause different types of paralysis syndromes.•First family reported that inherits the T704M mutation with a HypoKPP clinic.•Unusual symptoms during the period of the attacks, diplopia and bad smelling in periodic paralysis patients.•We still need to improve genotype-phenotype correlation in T704M mutation.•T704M mutation, showes interfamilial and intrafamilial clinical variability.
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关键词
PPs,HypoKPP,HyperKPP,PC,EMG,SET,CMAP,LET
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