Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysis

OBJECTIVE: To identify the genetic basis of a patient with symptoms of normokalemic sporadic periodic paralysis (PP) and to study the effect of KCNJ18 mutations. METHODS: A candidate gene approach was used to identify causative gene mutations, using Sanger sequencing. KCNJ18 promoter activity was an...

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Detalles Bibliográficos
Autores principales: Soufi, Muhidien, Ruppert, Volker, Rinné, Susanne, Mueller, Tobias, Kurt, Bilgen, Pilz, Guenter, Maieron, Andreas, Dodel, Richard, Decher, Niels, Schaefer, Juergen R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186026/
https://www.ncbi.nlm.nih.gov/pubmed/30338294
http://dx.doi.org/10.1212/NXG.0000000000000274

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186026/
https://www.ncbi.nlm.nih.gov/pubmed/30338294
http://dx.doi.org/10.1212/NXG.0000000000000274

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