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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2018
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| Materias: | |
| 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 |