CACNA1S
Associated conditions:
- Hypokalaemic periodic paralysis
CACNA1S makes the CaV1.1 calcium channel that triggers skeletal muscle contraction. Genetic changes in this gene are associated with an autosomal dominant risk of hypokalaemic periodic paralysis, with episodes of temporary weakness tied to low blood potassium, and malignant hyperthermia, a life-threatening reaction to certain anaesthetics. Knowing your genetic status enables carriers to flag this before surgery.
Tests that include CACNA1S:
Conditions linked to CACNA1S
Hypokalaemic periodic paralysis
Hypokalaemic periodic paralysis causes episodes of muscle weakness linked to low potassium, often after rest, carbohydrate-rich meals or exertion. It can also carry malignant hyperthermia risk, so anaesthetic teams should be told before surgery.
