A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review

BACKGROUND: The CACNA1S gene encodes the alpha 1 S-subunit of the voltage-gated calcium channel, which is primarily expressed in the skeletal muscle cells. Pathogenic variants of CACNA1S can cause hypokalemic periodic paralysis (HypoPP), malignant hyperthermia susceptibility, and congenital myopathy...

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Detalles Bibliográficos
Autores principales: Zhou, Wen, Zhao, Peilin, Gao, Jian, Zhang, Yunjian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10544472/
https://www.ncbi.nlm.nih.gov/pubmed/37784084
http://dx.doi.org/10.1186/s12887-023-04326-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10544472/
https://www.ncbi.nlm.nih.gov/pubmed/37784084
http://dx.doi.org/10.1186/s12887-023-04326-1

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