Research collaboration

The developmental brain disorders research program (at the Seattle Children’s Research Institute):


  • To understand the natural history of AKT3 related disorders.
  • To understand the molecular spectrum of AKT3 related disorders.
  • To understand the functional consequences of AKT3 mutations in vivo and in vitro (including in human iPSCs and cerebral organoids)
  • To identify the most optimal therapeutic approaches for children with AKT3 related disorders.

Inclusion criteria

  • Any child suspected or identified to have AKT3 related disorders.


  • Longitudinal (long-term) / prospective enrolment.

Expected results

  • Delineation of canonical phenotypes associated with AKT3 mutations, with a special focus on neurologic and neuroimaging features.
  • Characterization of types of disease-causing AKT3 mutations, tissue distribution and levels of mosaicism.
  • Identification of optimal therapeutic targets for AKT3 related neurological disorders.