Tools for screening asymptomatic hypokalaemic periodic paralysis

Spanish clinicians conducted a clinical, imaging and electrophysiological study on a cohort of patients with hypokalaemic periodic paralysis from the same region and carrying the same CACNAS1 gene mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). (p.R528).

• This study involved 8 symptomatic men, 3 asymptomatic women and 9 healthy volunteers.
• It redefines the diagnostic criteria for hypokalaemic periodic paralysis linked to the p.R528 mutation.
• Its results demonstrate the usefulness of muscle MRI and electrophysiological stress tests (long exercise) for screening, including in asymptomatic individuals.

Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort. Carbonell-Corvillo P, Rivas E, Cabrera M et al. Neurologia (Engl Ed). 2025 Sep;40(7):630-640.