Primary hypokalemic periodic paralysis-causing mutations in CACNA1S and resultant phenotypes


  • Four distinct phenotypes were found in patients with primary hypokalemic periodic paralysis (HypoPP) and associated pathogenic mutations in CACNA1S.

Why this matters

    These findings suggest that genetic testing individuals with HypoPP for CACNA1S mutations is warranted, and could lead to alterations in treatments and lifestyle interventions specific for the patient population and phenotype.