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Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis

Hypokalemic periodic paralysis (HPP) is a heterogeneous group of diseases characterized by intermittent episodes of delayed paralysis of skeletal muscle with episodes of hypokalemia, caused by variants in CACNA1S or SCN4A genes, or secondary to thyrotoxicosis, Sjogren syndrome, primary aldosteronism...

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Detalles Bibliográficos
Autores principales: Zhang, Zhi, Xiao, Banghui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9886676/
https://www.ncbi.nlm.nih.gov/pubmed/36733446
http://dx.doi.org/10.3389/fneur.2022.1078784