PRiSM consists of an in silico screening followed by three standardized assays. Two in vitro assays, looking at the effect of the variant on protein stability and neuronal morphology, and one in vivo assay, looking at the effect of the variant on neuronal migration.
NEWS & EVENTS
|The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. Human Mutation, 2018.:|
|Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. Nature Communications, 8 (1052), 2017.:|
|De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet, (101), pp. 768–788, 2017.:|