A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review

• Main Authors: Wen Zhou (Author), Peilin Zhao (Author), Jian Gao (Author), Yunjian Zhang (Author)
• Format: Knjiga
• Izdano: BMC, 2023-10-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Background The CACNA1S gene encodes the alpha 1 S-subunit of the voltage-gated calcium channel, which is primarily expressed in the skeletal muscle cells. Pathogenic variants of CACNA1S can cause hypokalemic periodic paralysis (HypoPP), malignant hyperthermia susceptibility, and congenital...