NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations

Documenti analoghi

• Sodium channelopathies of skeletal muscle result from gain or loss of function
  di: Jurkat-Rott, Karin, et al.
  Pubblicazione: (2010)
• Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties
  di: Bouasse, Malik, et al.
  Pubblicazione: (2019)
• Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
  di: Bramswig, Nuria C., et al.
  Pubblicazione: (2018)
• Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes
  di: Margraf, Rebecca L., et al.
  Pubblicazione: (2018)
• York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
  di: Markello, Thomas, et al.
  Pubblicazione: (2014)