Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

OBJECTIVE: To examine rare KCNJ18 variations recently reported to cause sporadic and thyrotoxic hypokalaemic periodic paralysis (TPP). METHODS: We sequenced KCNJ18 in 474 controls (400 Caucasians, 74 male Asians) and 263 unrelated patients with periodic paralysis (PP), including 30 patients with TPP...

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Detalles Bibliográficos
Autores principales: Kuhn, Marius, Jurkat-Rott, Karin, Lehmann-Horn, Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717442/
https://www.ncbi.nlm.nih.gov/pubmed/25882930
http://dx.doi.org/10.1136/jnnp-2014-309293

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717442/
https://www.ncbi.nlm.nih.gov/pubmed/25882930
http://dx.doi.org/10.1136/jnnp-2014-309293

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