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.

Additional Metadata
Keywords neurodevelopmental disorders, epilepsy, CAMK2, RHEB/mTOR, functional genomic screening
Promotor Y. Elgersma (Ype) , G.M. van Woerden (Geeske)
Publisher Erasmus University Rotterdam
ISBN 978-94-6332-619-3
Persistent URL
Proietti-Onori, M. (2020, September 9). CAMK2 and RHEB1 Mutations Associated with Intellectual Disability and Epilepsy. Erasmus University Rotterdam. Retrieved from