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.

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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. Retrieved from