Open AccessCACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis
Author(s) -
Rezkalla Nader,
Imam Kamran,
Marti Miriam,
Ip Karen,
Mashhadian Ardavan,
Liu Antonio
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3054
Subject(s) - hypokalemic periodic paralysis , medicine , thyrotoxic periodic paralysis , periodic paralysis , paralysis , mutation , pediatrics , genetic testing , channelopathy , genetics , surgery , gene , biology
Abstract It has long been believed that the patients with thyrotoxic hypokalemic periodic paralysis (THPP) may harbor genetic mutations commonly found in familial hypokalemic periodic paralysis. Despite extensive testing, such a mutation has escaped detection until now.