A new clinical entity in T704M mutation in periodic paralysis

Dilek Gun Bilgic,Aydeniz Aydin Gumus,Hamide Betul Gerik Celebi, Abdulkadir Bilgic, Nihan Unaltuna Erginel,Fethi Sirri Cam

Journal of Clinical Neuroscience(2020)

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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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