Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort
Our findings redefine the exercise test and muscle imaging findings in HypoPP due to the p.R528H CACNA1S mutation, with a particular focus on asymptomatic carriers, who displayed the same alterations as those described in symptomatic patients, thus highlighting their value as screening tools.
Authors
- Carmen Paradas (ORCID: https://orcid.org/0000-0002-6917-2236)
- Macarena Cabrera‐Serrano (ORCID: https://orcid.org/0000-0003-3109-6095)
- Eloy Rivas (ORCID: https://orcid.org/0000-0001-6014-8048)
- P. Carbonell-Corvillo (ORCID: https://orcid.org/0000-0002-6388-5964)
- Alberto García‐Redondo (ORCID: https://orcid.org/0000-0001-7646-386X)
- Ana I. Fernández (ORCID: https://orcid.org/0000-0002-1509-5191)
Institutions
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Instituto de Biomedicina de Sevilla (ES)
- Hospital Universitario Virgen del Rocío (ES)
- Instituto de Investigación Biomédica de Málaga (ES)
- Universidad de Sevilla (ES)
Publication Details
- Journal
- Neurología (English Edition)
- Published
- 2025-09-01
- DOI
- https://doi.org/10.1016/j.nrleng.2025.07.007
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 0.00