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Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

  • Chiara Klöckner
  • , J. Pedro Fernández-Murray
  • , Mahtab Tavasoli
  • , Heinrich Sticht
  • , Gisela Stoltenburg-Didinger
  • , Leila Motlagh Scholle
  • , Somayeh Bakhtiari
  • , Michael C. Kruer
  • , Hossein Darvish
  • , Saghar Ghasemi Firouzabadi
  • , Alex Pagnozzi
  • , Anju Shukla
  • , Katta Mohan Girisha
  • , Dhanya Lakshmi Narayanan
  • , Parneet Kaur
  • , Reza Maroofian
  • , Maha S. Zaki
  • , Mahmoud M. Noureldeen
  • , Andreas Merkenschlager
  • , Janina Gburek-Augustat
  • Elisa Cali, Selina Banu, Kamrun Nahar, Stephanie Efthymiou, Henry Houlden, Rami Abou Jamra, Jason Williams, Christopher R. McMaster*, Konrad Platzer*
*Corresponding author for this work

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