Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.
Daojun
D
Hong
Xinghua
X
Luan
Bin
B
Chen
Riliang
R
Zheng
Wei
W
Zhang
Zhaoxia
Z
Wang
Yun
Y
Yuan
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007008:Hypokalemia / Q000503:physiopathology*; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010245:Paralyses, Familial Periodic / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011188:Potassium / Q000097:blood*; D015222:Sodium Channels / Q000235:genetics*
D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels; D011188:Potassium