Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A

Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this d...

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Detalles Bibliográficos
Autores principales: Han, Ji-Yeon, Kim, June-Bum
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3254893/
https://www.ncbi.nlm.nih.gov/pubmed/22253644
http://dx.doi.org/10.3345/kjp.2011.54.11.470

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3254893/
https://www.ncbi.nlm.nih.gov/pubmed/22253644
http://dx.doi.org/10.3345/kjp.2011.54.11.470

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