CACNA1S gene mutation

Clinical significance

• CACNA1S gene mutationsassociated with
  • hypokalemic periodic paralysis
  • susceptibility to malignant hyperthermia 5

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• voltage-dependent Ca+2 channel alpha-1S (voltage-dependent Ca+2 channel-alpha 1 isoform 3 skeletal muscle, L type, CACNA1S, CACNL1A3, CACH1, CACN1,)