Functional expression of clifahdd and ihprf pathogenic variants of the nalcn channel in neuronal cells reveals both gain- and loss-of-function properties

HIGHLIGHTS

• who: Malik Bouasse from the IGF, CNRS, INSERM, University of Montpellier, LabEx ‘Ion Channel Science and Therapeutics', Montpellier, France have published the research work: Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties, in the Journal: Scientific Reports Scientific Reports of 16/Oct/2018
• what: This study provides the first description of the functional consequence of the pathogenic NALCN missense mutations and suggests that loss and gain of NALCN activity supports the inheritance patterns of IHPRF and CLIFAHDD, respectively. In NG108 . . .
  

   

  

  If you want to have access to all the content you need to log in!

  Thanks :)

  Username or Email

  Password

  Remember me

  Lost your password?

  If you don't have an account, you can create one here.