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...

Descripción completa

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

Ejemplares similares

Ejemplares similares