Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

  1. Shai Kellner
  2. Abeer Abbasi
  3. Ido Carmi
  4. Ronit Heinrich
  5. Tali Garin-Shkolnik
  6. Tova Hershkovitz
  7. Moshe Giladi
  8. Yoni Haitin
  9. Katrine M Johannesen
  10. Rikke Steensbjerre Møller
  11. Shai Berlin  Is a corresponding author
  1. Technion- Israel Institute of Technology, Israel
  2. Clalit health services, Israel
  3. Rambam medical center, Israel
  4. Tel Aviv University, Israel
  5. University of Southern Denmark, Denmark
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  1. Shai Kellner
  2. Abeer Abbasi
  3. Ido Carmi
  4. Ronit Heinrich
  5. Tali Garin-Shkolnik
  6. Tova Hershkovitz
  7. Moshe Giladi
  8. Yoni Haitin
  9. Katrine M Johannesen
  10. Rikke Steensbjerre Møller
  11. Shai Berlin
(2021)
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy
eLife 10:e67555.
https://doi.org/10.7554/eLife.67555