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...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
BMC,
2023-10-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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