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Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy

  • Philip K Ahring*
  • , Vivian W Y Liao
  • , Elena Gardella
  • , Katrine M Johannesen
  • , Ilona Krey
  • , Kaja K Selmer
  • , Barbro F Stadheim
  • , Hannah Davis
  • , Charlotte Peinhardt
  • , Mahmoud Koko
  • , Rohini K Coorg
  • , Steffen Syrbe
  • , Astrid Bertsche
  • , Teresa Santiago-Sim
  • , Tue Diemer
  • , Christina D Fenger
  • , Konrad Platzer
  • , Evan E Eichler
  • , Holger Lerche
  • , Johannes R Lemke
  • Mary Chebib, Rikke S Møller*
*Corresponding author for this work

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Neuroscience

Biochemistry, Genetics and Molecular Biology