A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability (Supplementary material)

Calcium/calmodulin-dependent protein kinase II (CAMK2) plays fundamental roles in synaptic plasticity that underlies learning and memory. Here, we describe a new recessive neurodevelopmental syndrome with global developmental delay, seizures and intellectual disability. Using linkage analysis and ex