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

• المؤلفون الرئيسيون: Wen Zhou (مؤلف), Peilin Zhao (مؤلف), Jian Gao (مؤلف), Yunjian Zhang (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2023-10-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...