Gain-of-function and loss-of-function gabrb3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

HIGHLIGHTS

• who: Nathan L. Absalom from the School The University have published the article: Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies, in the Journal: Neurology, Member of the ERN EpiCARE,
• what: The authors show that GABRB3-mediated DEEs essentially encompass two distinct groups of patients, those with a gain-of-function and those with a loss-of-function variant. This study has some general limitations. The authors demonstrate that GABRB3 variants can lead to GOF as well as LOF receptors and that . . .
  

   

  

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

  Thanks :)

  Username or E-mail:

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