Case report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis

BACKGROUND: Hypokalemic periodic paralysis (HypoKPP) is a rare neuromuscular genetic disorder causing recurrent episodes of flaccid paralysis. Most cases are associated with CACNA1S mutation, causing defect of calcium channel and subsequent impairment of muscle functions. Due to defined management a...

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Detalles Bibliográficos
Autores principales: Nuzhnyi, Evgenii P., Arestova, Alina S., Rossokhin, Alexey V., Protopopova, Anna O., Abramycheva, Nataliya Yu, Suponeva, Natalia A., Illarioshkin, Sergey N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10570449/
https://www.ncbi.nlm.nih.gov/pubmed/37840943
http://dx.doi.org/10.3389/fneur.2023.1267426

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10570449/
https://www.ncbi.nlm.nih.gov/pubmed/37840943
http://dx.doi.org/10.3389/fneur.2023.1267426

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