A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Hypokalaemic periodic paralysis is a rare genetic neuromuscular disease characterized by episodes of skeletal muscle paralysis associated with low serum potassium. Muscle fibre inexcitability during attacks of paralysis is due to an aberrant depolarizing leak current through mutant voltage sensing d...

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Detalles Bibliográficos
Autores principales: Sampedro Castañeda, Marisol, Zanoteli, Edmar, Scalco, Renata S, Scaramuzzi, Vinicius, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, O’Callaghan, Benjamin, Phadke, Rahul, Bugiardini, Enrico, Sud, Richa, McCall, Samuel, Hanna, Michael G, Poulsen, Hanne, Männikkö, Roope, Matthews, Emma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262219/
https://www.ncbi.nlm.nih.gov/pubmed/30423015
http://dx.doi.org/10.1093/brain/awy283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262219/
https://www.ncbi.nlm.nih.gov/pubmed/30423015
http://dx.doi.org/10.1093/brain/awy283

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