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 mutation (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.
