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

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Wen Zhou (Author), Peilin Zhao (Author), Jian Gao (Author), Yunjian Zhang (Author)
Format: Book
Published: BMC, 2023-10-01T00:00:00Z.
Subjects:
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

Connect to this object online.

3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available