This thesis shows the results obtained from a series of functional assays to validate variants identified in two different evolutionary conserved “old genes”, CAMK2 and RHEB1, only recently linked to the pathogenesis of intellectual disability (ID) and epilepsy.

neurodevelopmental disorders, epilepsy, CAMK2, RHEB/mTOR, functional genomic screening
Y. Elgersma (Ype) , G.M. van Woerden (Geeske)
Erasmus University Rotterdam

Proietti-Onori, M. (2020, September 9). CAMK2 and RHEB1 Mutations Associated with Intellectual Disability and Epilepsy. Erasmus University Rotterdam. Retrieved from