The developmental brain disorders research program (at the Seattle Children’s Research Institute):
- To understand the natural history of PIK3CA related overgrowth disorders, with a special focus on the neurological and neuroimaging features.
- To understand the molecular spectrum of PIK3CA related overgrowth disorders, including tissue distribution, levels of mosaicism and types of mutations of PIK3CA.
- To understand the functional consequences of PIK3CA mutations in vivo and in vitro (including in human iPSCs and cerebral organoids).
- To identify the most optimal therapeutic approaches for children with PIK3CA related epilepsy and other neurological consequences.
- Any child suspected or identified to have PIK3CA related neurological disorders (including MEG, PMG, HMEG, FCD or epilepsy), and informative family members.
- Longitudinal (long-term) / prospective enrolment.
- Delineation of canonical phenotypes associated with PIK3CA mutations, with a special focus on neurologic and neuroimaging features.
- Characterization of types of disease-causing PIK3CA mutations, tissue distribution and levels of mosaicism.
- Identification of optimal therapeutic targets for PIK3CA related neurological disorders.